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Congenital malformations of the spinal cord without early symptoms
Congenital malformations of the spinal cord without early symptoms D. Moffie*,
S.Z. Stefanko*
*, and B. Makkink*
**
Introduction Summary
In most cases of severe congenital malformations of the spinal cord the diagnosis can be made at birth, e.g. in spina bifida, meningocele, some of which may be amenable to neurosurgery. In other cases symptoms may develop in early childhood as in diastematomyelia’. Sometimes, however, symptoms develop in later life, often provoked by intercurrent diseases. Case reports
Case I Mr. N., born September 25,1900, was first seen on March 2, 1971 in the neurological outpatient department of the Dijkzigt Hospital (Dr. H. Busch), on account of gait disturbances which began in 1967. In the beginning his gait was unsteady, but since 1970 he could not walk without support. A certain diagnosis could not be made, but it was thought that he had a disease of the second motor neuron, perhaps a paracarcinomatous disease. Clinical observations did not add new facts. In January 1977 he was admitted to the internal department of the St. Franciscus Hospital where he died on January 16, 1977 of chronic bronchitis, emphysema and pneumonia. Autopsy was performed on January 17 (Dr. S. Gratama) and the spinal cord
Description of 11 patients with congenital malformations of the spinal cord. Six of them were males, five females and the age varied from 7 to 70 years. Most of these cases produced clinical neurological signs indicating spinal cord disease in later life during an intercurrent disease. It was thought that changes in the bloodvessels and/or perfusion of the area of the spinal cord malformation was the ultimate cause of the neurological symptoms. An exact explanation of the origin of these developmental disturbances of the spinal cord remains unknown. Different hypotheses proposed in the literature, concerning these malformations, are not satisfactory. Key words: congenital
malformations,
spinal
cord.
was sent to the department of neuropathology of the Erasmus University. A diastematomyelia with heterotopia at the level of Th4 (Fig. 1) and an asymmetry with heterotopia at Th7 and in the high lumbar region were found. Furthermore ischemic necrosis of a part of the right inferior olive was seen and degeneration of the right pyramidal tract.
*Dept.of
Neurology, Slotervaart Hospital, Amsterdam * * Dept. of Clinical Pathology, Erasmus University, Rotterdam * * * Dept. of Pathology, SSDZ, Delft, The Netherlands. Address for correspondence and reprint requests: S. Z. Stefanko, Erasmus University Rotterdam, Dept. of Clinical Pathology, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. Accepted 21.11.8.5 Clin Nemo1 Neurosurg 1986. Vol. 88-I.
27
Fig. 1, Case 1. Diastematomyelia
with heterotopia
~o~~~~~r~ It is not clear why gait disturbances began when the patient was 67 years old. Since 1953 he suffered from chronic bronchitis and in 1971 slight pulmonary emphysema had been found with a normal venous pressure, One may speculate that a changing oxygen supply of the spinal cord may have provoked the symptoms of a long present anomaly in an area with a marginal arterial supply. CK?e 2 P.S., male, born April 5, 1900, began to complain during his holidays in September 1973 about weakness of the left leg. Since 1970 he had had low-back-pain after a fall from a staircase. It was thought that he had a prolapsed disc L4-L5 and on myelography (September 15, $973) a small protrusion was found, which however could not explain the clinical signs. The diagnosis remained uncertain, His low-back-pain increased with radiation of the pain into his left leg and the weakness of this leg became more pronounced. Myelography was repeated (June 20, /974) which suggested a compression of the cauda equina, especially on the left side. He was referred to the neurosurgical department for exploration and a lumbal laminectomy was performed on June 24, 1974 (Prof. Dr. S.A. de Lange) but no root compression was found. Some of the roots seemed thickened and pale and part of the left LS root was removed for examination. Microscopy showed some slight degenerative changes whith focal oedema and some lymphohistiocytic infiltration. EMG-examination led to the idea of a pure motor 2x
Fig. 2. Case 2. Heterotopia
of the left posterior horn
poly~europathy from unknown origin. in the middle of 1975 he was readmitted to the neurological department of the Dijkzigt Hospital andnowadiagnosis was made of amyotrophic lateral sclerosis and polyneuropathy. This patient died on October 12, 1975 and autopsy was performed. On examination of the brain no abnormalities were found. The spinal cord was somewhat flattened with dilatation and hyperaemia of the dorsal venes in the thoracic region from Th3- 12, Microscopy revealed demyelination of the posterior columns, some irregular atrophic patches in the anterior part of the spinal cord and some atrophy of the left pyramidal tract. There was a decrease of the number of motor cells in the anterior horns, some of which were atrophic fn the ventral part of the left posterior horn a heterotopy was found, sharply delimited, in which a thin network of myelinated fibres was present, but no nerve cells (Fig. 2). There was no contact of this heterotopy with the central canal. No nerve cells were seen in Clarke’s column OR the left side, whereas this column on the right side contained some abnormal nerve cells. In the medulla oblongata, in the pons and in the mid-brain the pyramidal tracts seemed normal. Nerve cells in the thoracic and lumbar region showed some fibrillary degeneration as seen in Aizheimers’ disease. There were also some degenerative changes in the cerebellum. Comment: The clinical picture might be considered as a very atypical amyotrophic fateral sclerosis, in which the role of the spinal heterotopy remains unclear.
Fig. 3 and 4. Case 3. Anomaly of the arteria radicularis magna (Adamkiewicz)
Case 3 Mr. C.O., born October 3,1940, was known to be suffering from chronic nephritis, secundary hypertension and gout. In the early morning of April 19, 1975 he suddenly got pain behind the sternum which irradiated to the back and at the same time he felt severe pain in both legs with a feeling of pins and needles. On admission to the surgical department of the Dijkzigt Hospital he had a grey uremic aspect, a bloodpressure on the right side of 290/130 mmHg and on the left arm 230000 mmHg. His temperature was 37,5”C. Pulse 6O/min. regular and equal. His right leg was white and cold, the left leg blue and cold. There was a pronounced weakness of both legs whereas sensibility seemed normal. No arterial pulsations on the groin and in both legs could be felt. The diagnosis of dissecant aneurysm was confirmed by aortography, via the left axillary artery. Laparotomy was performed and the dissection was surgically treated. After operation there was a complete paralysis of both legs and anuria. He died a short
Fig. 5. Case 3. Heterotopic area in the thoracal spinal
cord
time after operation. Necropsy of the spinal cord was performed and we got the impression that there was some softness in the area between Th8 and ThlO. Along the root of Ll or L2 on the left side a large artery was seen, which dichotomized on the ventral side of the spinal cord; the caudal branch was rather thick, whereas the cranial branch was very thin. This caudal branch could be followed across the filum terminale (Figs. 3,4). After section of the 29
spinal cord at the level Th8 a cylindrical core of nervous tissue was seen, which had the largest diameter in its lower part. This heterotopy shows the structure of a small spinal cord (Fig. 5). The roots of this minicord are normal. In a Kluver stain the fibrebundles of this heterotopic spinal cord have an oblique course downward. In a Bodian stain the axons of these fibres are thickened and fragmentated. degenerated, These degenerated fibres seem to cross from upward to the contralateral anterior part of the spinal cord. Comment: One may conclude that these anatomical abnormalities are accidental findings, never causing neurological symptoms and compatible with normal life. The postoperative paraplegia probably has to do with the anomalous pattern of the arteria radicularis magna (Adamkiewicz).
Case 4 E.V., male, born April 17, 1957, was admitted to the intensive care department of the Dijkzigt Hospital on September 2, 1975. On August 27, 1975, he got a painful stiff feeling in both legs. followed by weakness of the legs and later on by weakness of the arms. Shortly before admission he became dyspneic. On neurological examination (Dr. H. Busch), a tetraparesis was found with areflexia and a tentative diagnosis was made of Guillain-Barre syndrome. Arteficial respiration was necessary, but this patient developed a metabolic acidosis and severe abnormalities in the E.C.G. He became comatose and died shortly thereafter, probably from renal failure with hyperkalemia. Necropsy of the spi-
Fig. 6. Case 4,Pseudodiastematomyelia
30
at the level Th 10
nal cord revealed a pseudodiastematomyelia at the level of ThlO (Fig. 6). The two malformed myela are connected with each other and in the Bodian stain of the transitional area, fragmentated axons are found. The rest of the central nervous system was normal and there was no anatomic support for the diagnosis of GuillainBarre syndrome. Comment: The clinical picture can not be explained by the malformation of the spinal cord in the lower thoracic region. Case 5
J.R., male, born April 23,1944, was admitted to the neurological department of the Dijkzigt Hospital on November 29, 1966 and transferred to the internal department on November 30. Since 1959 every year. especially in autumn, he began to complain about weakness of the legs, walking difficulties and a waddling gait. During a previous clinical observation in 1962 a complete internal and neurological examination led to the vague diagnosis of a relapsing myopathy from unknown origin. On neurological examination this thin young man had difficulties in moving his muscles which were hypotonic, the reflexes being normal. There were loud systolic and diastolic murmurs on all ostia of the heart. Extensive serological examinations on auto-immune disease, syphilis and disseminated lupus erythematodes were negative. A muscle biopsy of the calf showed signs of a myopathy, no myositis. The diagnosis remained myopathy from unknown origin. This patient suddenly died on November 5, 1966. On autopsy all organs were normal. Examination of the spinal cord (Dr. V.W.D. Schenk) revealed a rather
Fig. 7. Case 5. Diastematomyelia
of the lumbal
spinal cord
wide central canal in the cervical and thoracic cord with gliosis around the canal. The lumbar part showed an incomplete doubling of the spinal cord (Fig. 7). Co~~e~~~ It is possible that this gait-disturbances had to do with the abnormality of the lumbar spinal cord.
(Dr. V.W.D. Schenk) showed a dimyelia (Fig. 8); in some places there was a transition area between the two spinal cords (Fig. 9). Comment: This patient with a partial dimyelia without neurological symptoms during life, died from the complications of a purulent meningitis.
Case 6 D.K.-S., female, born March 9, 1918, was admitted to the intensive care department of the Hospital Ziekenzorg in Enschede on June 12, 1976 with respiratory difficulties. On June 9 she got low-back-pain and abdominal complaints with diarrhoea. There was some hypalgesia of the left leg. On June 12, she developed a weakness of both legs and both arms with pain and a complete areflexia. Further facial paralysis and a paresis of the abducent nerve on the left side were found. The total protein content of the spinal fluid was increased and the cellcount was 50:3. A diagnosis was made of the GuillainBarr6 syndrome in a patient with a pronounced kyphoscoliosis. Shortly after admission the temperature rose to 41.2%. The blood pressure fell to 70/50. The hemoglobin content of the blood diminished, due to melena and she got numerous subcutaneous haemorrhages on the thorax. In a very short time anuria, hyperkalemia and a thrombopathia developed, she became comatose with wide fixed pupils. Shortly afterwards she died. Autopsy revealed a purulent coli-meningitis, disseminated intravasal coagulation in all internal organs, haemorrhages in the brain, in the spinal cord, adrenals, etc. and a terminal haemorrhage in the brain stem. Examination of the spinal cord
Case 7 M.B., female, born January 11, 1905, was admitted to the internal department of a hospital in Delft on February 7, 1980, on account of severe back pain. Extensive internal examination showed a decalcification of the vertebral column with flattening of the vertebrae of Thll, Th12 and L2. There was a low protein content of the blood with hypo-albuminia. Neurological examination revealed signs of a polyneuropathy. After some weeks this patient could be mobilized but she suddenly died in the morning of April I, 1980. Autopsy was performed: there was an arteriosclerosis of the basal arteries of the brain and arteriolosclerosis of the small arterioles. The cause of death was a myocardial infarction. The brain was atrophic and on both sides a status lacunaris of the lentiform nuclei was found. The spinal cord seemed flattened in the high thoracic region. Microscopic examination of the levels Thl-4 showed a heterotopia in the right dorsal horn (Fig. 10). The left dorsal horn was poorly developed. There was a demyelination of the posterior roots and also of the anterior roots which seemed underdeveloped. In a Bodian stain the nerve fibres of the heterotopia were of a varying diameter and fragmentated. In the anterior median fissure a convolute of arteries was seen, with thickened and partly hyalinised walls.
Fig. 8. Case 6. Diplomyelia (dimyelia)
Fig. 9. Case 6. Diastematomyelia
31
the tumour.
Ventriculoperitoneal
drainage
was
performed, after which some improvement was noted but later on he deteriorated, he got headache, epileptic fits and he died on February 5. 1980. Autopsy showed a large tumour mass with central necrosis in the left fronto-parietal region
with the same histological
the biopsy Fig. 10. Case 7. Thoracal
symptoms
upper
heterotopia
infundibulum centre of
thoracic
during
of the dorsal horn
spinal
cord
gave
no
life.
Case 8 P.T., male, born August 8, 1969, underwent in 1976 a thoracic laminectomy, from Th5-8 inclusive, for an intramedullary benign astrocytoma grade 1 (Neurosurgical department of the Dijkzigt Hospital). Complete removal was not possible. Six weeks later the child developed a hemiplegia on the right side, due to a left frontoparietal tumour. Biopsy showed the picture of a neuroblastoma. After operation the child got radiotherapy and vincristin and in the following years several cures of CCNU and vincristin were given. In 1979 he had a generalized epileptic fit, and CT-scanning of the brain showed a hydrocephalus and a recurrence of the left fronto-parietal tumour. He was readmitted to the neurosurgical department of the Dijkzigt Hospital but shortly thereafter he suddenly got a wide fixed pupil on the right side. It was thought that this might be caused
Fig. 11. Case 8. Pseudodiastematomyelia
32
picture
There
tensive dissemination of the tumour quor spaces and inplantation-metastases
Comment: This heterotopia in the
(neuroblastoma).
by a haemorrhage
with heterotopia
in
(astrocytoma)
as in
was an exvia de liin the
and in the ventricular walls. In the an intramedullary tumour in the lumbar spinal cord there
was a cavity, the wall of which consisted of glial elements, without any connection with the central canal. Above and below this cavity a heterotopic mass was seen, which gave the spinal cord aspect pseudothe of a diastematomyelia. In this heterotopic areas central split-like cavities were seen and a focal degeneration of This the axons. pseudodiastematomyelia of the spinal cord is giving the impression of a small spinal cord within the spinal cord (Fig. 11). Comment: In this boy with two neuroectoderma1 tumours, the lumbal spinal cord showed a congenital malformation. probably without neurological symptoms. Case 9 C.A., female, born August 17, 1909, was admitted to the neurological department of the Haven Ziekenhuis in Rotterdam on December 24, 1979 and later transferred to the neurological department of the Eudokia Hospital (Dr. H.H. Vroon). In September 1979 she began to complain about weakness of the legs without sensory disturbances. This weakness increased; at the end of November 1979 she could hardly walk anymore. There were no sphincter Her previous history was disturbances. negative. On neurological examination she had a flaccid paresis of both legs which increased in distal direction. This paresis was more pronounced on the right side. The knee jerks were normal and equal, but the Achilles tendon reflex was lower on the right side. Plantar responses were normal. No sensory disturbance could be found. There was a normal spinal fluid pressure with normal manometric tests. The composition of
Fig. 12 and 13. Case 9. Pseudadiastematomyelia
the spinal fluid was also entirely normal: syphilis reactions were negative. Some osteoporosis was seen on the X-rays of the spine. The EMG pointed to a severe axonal and demyelinating polyneuropathy and in a biopsy of the right sural nerve chronic axonal disease was seen with signs of axonal regeneration. No signs of de- and remyelination, no amyloid or in~ammatary symptoms. During the clinical observation she developed a total paralysis of both legs with areflexia. There were no sphincter or sensory disturbances. The arms remained completely normal. The clinical diagnosis was a severe motor ~lyneuropathy of the legs from Her general condition origin. unknown deteriorated but the neurological symptoms remained unchanged. This patient died on July 4, 1980 and autopsy was performed (Dr. N.J.A. N~rduijn). The brain had a weight of 1300 gram and there was a slight fibrosis of the arteries. There was some frontal atrophy and a slightly dilated ventricular system. Microscopy of the spinat cord showed two 1. At the level of CS different abnormalities: there is a deformation of the right anterior horn. Instead of the normal butterfly structure of the grey matter we see irregular islands of a grey matter in some places (Fig. 12). This abnormality increases in the dorsal segments in which the right anterior horn is lengthened into the lateral direction, giving the spinal cord the picture of a pseudodiastematomyelia. The posterior columns are too large and divided by a big sulcus which connects with the posterior central sulcus. In lower sections of the cord (Th4-Th5) the central grey matter shows an irregular structure and a normal butterfly pattern is absent (Fig. 13). At ThlO the posterior
Fig. 14. Case. 9. Abnormal development of the posterior columns
columns show an abnormal development, a sort of excrescention of the spinal cord (Fig. 14). Lf to L3 are normal. 2, There is an evident demyelination of the lateral pyramidal tracts in all levels. This is less clear in the anterior pyramidal tract and in the spinocerebellar tracts. There is a spongiosis of the ascending tracts, which contrast with the rather normal structure of the posterior columns, except the above described malformation. The number of motorcells in the ventral groups of the anterior horn is diminished in all In the thoracic area with the levels. pseudodiastematomyelia there is also a pronounced dilation and increase of the capillaries of the grey matter. The meninges are thickened and the roots contain strongly dilated venes with an angioma-like aspect in some places. Comment:In the higher thoracic area the spinal cord picture of a shows the pseudodiastematomyelia, whereas in the lower thoracic segments we see a malformation of the posterior cofumns. The degeneration of the pyramidal tracts, with the decrease of the motorcells in the anterior horns are giving the impression of an amyotrophic lateral sclerosis; 33
in the area of the pseudodiastematomyelia the capillary proliferation suggests an angiomatosis. In the brain senile plaques were seen in the cortex. It is difficult to correlate the clinical pictures with the abnormalities of the spinal cord; the weakness of the legs with areflexia may be ascribed to the cell-loss in the anterior horn whereas the degeneration of the pyramidal tracts was not reflected in the clinical picture. This, however, is not unusual in amyotrophic lateral sclerosis. We do not think that the congenital malformation of the spinal cord does play a prominent role in the clinical picture and the eventual connection with the amyotrophic lateral sclerosis remains unclear. Cuse 10
W.L., born February 29, 1920, was admitted to the Antoni van Leeuwenhoekhuis in Amsterdam in November 1979 for a radical mastectomy on the right side on account of a breastcancer. After operation she got X-ray treatment. In March 1980 she developed a swelling in the right groin, which was excised. Microscopy showed a highly malignant non-Hodgkin lymphoma for which she was treated with cytostatics. In June 1980 she developed neurological symptoms for which she was seen by Dr. B.W. Ongerboer de Visser. There was a peripheral paralysis of the right facial nerve, deafness of the right ear and arefiexia of the right cornea. In the spinal fluid atypical lymphoid cells were found. An OMMAYA-system was implanted (Dr. Z.D. Goedhart) followed by intraventricular MTXtreatment. This was combined with X-ray irradiation of the base of the skull. On June 16 a
Fig. 15 and 16. Case 10. Malformation of the posterior columns
34
paresis of the right leg developed and caudography showed irregular defects at the level of the discus L4-L5. It was thought that this was due to an epidural metastasis. No tumourcclis were found in the spinal fluid anymore. X-ray treatment of the lumbosacral region was instituted. Her general condition declined. She died on December 19, 1980. Autopsy was performed (Dr. J.F.M. Delemarre). The brain and spinal cord had a weight of 1550 grams. The brain had an anaemic aspect. The meninges seemed normal. In the lumbar and thoracic part of the spinal cord some tuberous formations were seen on the posterior columns. Microscopy of these formations revealed the existence of a prohferation of nerve fibres with an abnormal structure. This abnormal fibre had a course in a dorsal direction, perpendicular on the normal course of the posterior column fibres (Fig. 15). On the lateral side of this proliferation the thickened leptomeninx is interrupted. The anterior and posterior roots have an abnormal course and are grown together with the pia, especially the anterior roots. There is a heterotopia of the grey matter (Fig. 16). In the Bodian stain of the roots a great number of axons has disappeared or have a pathological appearance. The axons in the spinal cord itself are abnormal too. fragmentated and thickened. Jn the caudal roots a pronounced degeneration of the nerve fibres can be seen. Comment: The tuberous excrescentions on the dorsal part of the spinal cord which resembled those of the previous case, have to be considered as heterotopy of the white matter which is very rare and could not be found in the
available literature. A connection with the MTX-treatment or X-ray irradiation is unlikely. The degeneration of the nerve roots may be ascribed to be chemotherapy. Case 11
C.B.M., female, born November 7, 1913, died in the internal department of the Slotervaart Ziekenhuis (Dr. L.W. Statius van Eps) on December 31, 1981 from pneumonia. She had been suffering for years from rheumatoid arthritis and shortly before death she developed a vasculatory insufficiency with a flaccid paresis of all extremities and normal sensibility. On autopsy (Dr. E. van Culik) the brain weight was 1270 grams and no microscopic abnormalities were found in the brain. However, in the low cervical region of the spinal cord the anterior horns were strongly developed with an abnormal configuration; on the ventral side they reached the surface of the spinal cord (Fig. 17). The area of the dorsal columns is too small, and mainly consists of the fasciculi graciles. A large number of the fibres has a course perpendicular to the normal course of the posterior column fibres. The abnormal fibres are fragmentated with signs of demyelination, which is also seen in the posterior roots. In the middle of the cervical cord the configuration becomes normal but there is some myelin degeneration in both posterior columns. In the high thoracic segments, the structure of the spinal cord becomes completely abnormal (Fig. 18); there are 3 deformed anterior horns and an abnormal course of nerve fibres. In these heterotopic nerves fibres fragmentation of the axons is seen.
Fig. 17. Case 11. Heterotopias
of the cervical spinal cord
Comment: The high thoracic and lower cervical spinal cord show a congenital anomaly which may be placed in the group of the pseudodiastematomyelia. The clinical picture of a tetraplegia is compatible with a circulator disturbance in the area of the anomaly. Discussion The above described group of patients consists of six males and five females, varying in age from 7 to 70 years. We have to do with different types of abnormalities: and 1. diplomyelia c.q. diastematomyelia pseudodiastematomyeiia. 2. heterotopias of the spinal cord. There is some confusion about the use of the terms diastematomyelia and diplomyelia. The name diastematomyelia has been coined by 011ivier2 in his ‘Trait6 de la moelle Cpiniere (1827). In diastematomyelia there is a partial splitting of the spinal cord in which the two parts, each spinal cord in itself, are connected. Diplomyelia is a real duplication ofthe spinal cord over a number of segments. This abnormay also be found in mality, however, diastematomyelia, so that there is no real distinction between these two conditions. Diastematomyelia c.q. diplomyelia is considered as a disturbance in the embryological development of the spinal cord which may be produced experimentally in chicken embryos and in rats. It was first produced by Hertwig in frog embryos. In diastematomyelia the split of the spinal cord is mostly in the thoracic region, sometimes
Fig. 18. Case 11. Pseudodiastematomyelia thoracal spinal cord
with heterotopia of the
35
spinal cord are seldom
mentioned
in literature.
This may be due to the fact that most of them do not give clinical signs during life. Heterotopic grey matter I
Fig
A
(case61
17
Fig
B
(case
6)
I Fia. C
(case
F1g.D
5)
(case
1)
1 -I
in the dorsal columns
spinal cord has been described Brissand5, but in the past anything
about
this
of the lumbar
by Pick4 and by decades hardly
anomaly
has
scribed heterotopic horns
of the spinal
fibre bundles
in the anterior
cord but from the clinical
point of view nothing is known about tient. Hori elul.’ described a heterotopy
Fig. E
(case
4
Fig.G
(case
7)
1
I
I
Fig
I (case8)
DIFFERENT
TYPES
Fig. F
(case
9)
Fiq. H
(case
3)
I
I
,
Fig
J
(case2)
OF ABNORMALITIES
Fig. 19. Different types of abnormalities Fig. A. Diplomyelia Figs. B and C. Diastematomyelia Fig. D. Diastematomyelia with heterotopia Figs. E and F. Pseudodiastematomyelia Figs. G-J. Heterotopias
combined with a duplication of the meningeal membranes. In quite a number of cases the spinal canal is wider than normal and the split spinal cord is divided by a bony spur. Often there is a fixation of the spinal cord. The two halfs of the cord are rotated over 90” so that the ventral parts of each cord face each other. In man the real cause of the embryological disturcausing diastematomyelia is still bance unknown. Some investigators think that there is some failure in the closure of the embryonic neural tube, but another group thinks that after closure of this tube there is a reopening or rupture. The hypothesis of the primary non-closure has the most adherence. Heterotopias in the 36
been
published. Ostertagf’ does not mention this subject nor is it found in Greenfield’. Bebris” de-
this paof grey
matter in the centre of the superior cervical cord and in the dorsal part of the medulla oblongata in a child with Gruber’s syndrome, that died four days after birth. In another paper Hori et al. I0 give a description of 4 rare types of duplication of the spinal cord: complex dimyelia, diplomyelia, typical diastematomyelia and diastematomyelia. One case concerned a complete doubling of the spinal cord in a dicephalus abrachus with multiple abnormalities of visceral organs. A second case concerned an accessory spinal cord, ventral of the normal spinal cord in the region of LS-cauda without parenchymatous connection. Intramedullary diplomyelia has been described by Loblich”. In his case the small heterotopic spinal cord was situated in the posterior columns from L2 to S4. He considered this as a pencilike diplomyelia or intramedullary diastomatomyelia, due to developmental disturbances in the fourth to fifth embryonic months. In Griepentrog’s’? malformation there was a second spinal cord on the ventral side of the main spinal cord in the thoracic region. Both spinal cords were connected with eachother. Similar cases had been described previously by Von Santha” and by Haas14. We do not agree with the opinion of 0stertag6, that the cases of Loblich and Griepentrog are artifacts due to non-correct removal of the spinal cord at autopsy. Our case 3 has a close resemblance to that of Loblich. Only the situation of the minor cord is somewhat different. diastemadescribed Garza-Mercado’” tomyelia and intramedullary epidermoid spinal cord tumour in combination with an extradural teratoma in an adult. This also supports the embryonic genesis of the above described
malformations. The problem is why clinical neurological signs of these developmental spinal abnormalities often occur in later life. We think that circulatory disturbances in the area of the spinal malformation, possibly in combination with a diminished perfusion, may play a role. In our case 3, there was an anomalous division of the artery of Adamkiewicz. A diminished perfusion of the spinal cord may be caused by circulatory disturbances due to the terminal disease and arteriosclerosis as a large number of patients are oi advanced age. If these circulatory disturbances do not occur, it is quite probable that many congenital abnormalities of the spinal cord remain silent and undetected. Only routine autopsy of a large number of spinal cords could give us an idea about the incidence of these congenital malformations.
2
3
4
We are indebted to Dr. B.W. Ongerboer de Visser, consulting neurologist, for the clinical details of case 10, to Dr. Th. Vroom and Dr. G. Brute1 de la Rivitre (Department of Pathology, Slotervaart Hospital) for case 11 and to Miss D. Kiers (Department of Clinical Pathology, Erasmus University, Rotterdam) for technical assistance. Miss M. v.d. Elzen gave us much help during the preparation of the manuscript.
UND
1878;
PATHOLOGISCHEN ARCH
PSYCHIAT
283-309.
BRISSAND E. LeGons sur les maladies nerveuses. Masson, Paris, 1895. ‘6 OSTERTAG B.Missbildungen.Grundziige der Entwicklung und Fehlentwicklung. In: Handbuch der Spieziellen Pathologischen Anatomie u. Histologie. XIII Bd: Nervensystem. W. Scholz, ed. Berlin: Springer/Verlag, 1956. 7 GREENFIELD JG. Neuropathology. 3rd. ed. 1976. London: E. Arnold. 8 BEBRIS A. Un cas d’heterotopie de la substance blanche dans la come antCrieure de la moelle chez l’homme. Comptes Rendus de Biologie, Paris 1929; 539-40. 9 HORI A, ORTHNER H, KOHLSCHtilTER A, SCHOTT KM,
II I2
I3
I5 Diastomyelia-diplomyelia. In: Vinken PJ, Bruin GW, eds. Handbook of Clinical Neurology 1978; 32:239-54. PE.
NORMALEN
5
References SHEFTAK
ZUR
DES ZENTRALNERVENSYSTEMS.
NERVENKRANKHEITEN
I4
I
PICK A. BEITRAGE ANATOMIE
lo
Acknowledgement
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HIRABAYASHI K, SHIMOKAWA K. CNS Dysplasia in Dysencephalia Splanchnocystica (Gruber’s Syndrome). Acta Neuropath (Berlin) 1980; 51:93-7. HORI .4, FISCHER c, DIETRICH-ScH0m B, IKEDA K. Dimyelia, diplomyelia and diastematomyelia. Clin Neuropathol 1982; 1:23-30. L~BLICH HJ. Intramedulllre Diplomyelie. Zbl Allg Path01 u Path Anat 1953; 90-1, 373-80. GRIEPENTROG F. Eine seltene Form von Riickenmarksmissbildung (partielle unfreie Diplomyelie). Zbl Allg Path01 u Path Anat 1953; 90-1, 380-4. SANTHA K VON. Ueber das Verhalten des Kleinhirns in einem Falle von endogen-famililrer Idiotic, nebst Beitrag zur Lehre der Diplomyelie. Z Neurol Psychiat 1939; 123:717-93. HAAS E. Eine fortsatzlhnliche Missbildung des Riickenund markes ihre Abgrenzung von den Diastematomyelien. Zentralbl Path01 1952; 88:16-20. GARZA-MERCADO
R. Diastematomyelia
and
intramedul-
cord tumor combined with extradural teratoma in adult. Case Report. J Neurosurg 1983; 58:954-8. lary
epidermoid
spinal
37
S.Z. Stefanko*
*, and B. Makkink*
**
Introduction Summary
In most cases of severe congenital malformations of the spinal cord the diagnosis can be made at birth, e.g. in spina bifida, meningocele, some of which may be amenable to neurosurgery. In other cases symptoms may develop in early childhood as in diastematomyelia’. Sometimes, however, symptoms develop in later life, often provoked by intercurrent diseases. Case reports
Case I Mr. N., born September 25,1900, was first seen on March 2, 1971 in the neurological outpatient department of the Dijkzigt Hospital (Dr. H. Busch), on account of gait disturbances which began in 1967. In the beginning his gait was unsteady, but since 1970 he could not walk without support. A certain diagnosis could not be made, but it was thought that he had a disease of the second motor neuron, perhaps a paracarcinomatous disease. Clinical observations did not add new facts. In January 1977 he was admitted to the internal department of the St. Franciscus Hospital where he died on January 16, 1977 of chronic bronchitis, emphysema and pneumonia. Autopsy was performed on January 17 (Dr. S. Gratama) and the spinal cord
Description of 11 patients with congenital malformations of the spinal cord. Six of them were males, five females and the age varied from 7 to 70 years. Most of these cases produced clinical neurological signs indicating spinal cord disease in later life during an intercurrent disease. It was thought that changes in the bloodvessels and/or perfusion of the area of the spinal cord malformation was the ultimate cause of the neurological symptoms. An exact explanation of the origin of these developmental disturbances of the spinal cord remains unknown. Different hypotheses proposed in the literature, concerning these malformations, are not satisfactory. Key words: congenital
malformations,
spinal
cord.
was sent to the department of neuropathology of the Erasmus University. A diastematomyelia with heterotopia at the level of Th4 (Fig. 1) and an asymmetry with heterotopia at Th7 and in the high lumbar region were found. Furthermore ischemic necrosis of a part of the right inferior olive was seen and degeneration of the right pyramidal tract.
*Dept.of
Neurology, Slotervaart Hospital, Amsterdam * * Dept. of Clinical Pathology, Erasmus University, Rotterdam * * * Dept. of Pathology, SSDZ, Delft, The Netherlands. Address for correspondence and reprint requests: S. Z. Stefanko, Erasmus University Rotterdam, Dept. of Clinical Pathology, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. Accepted 21.11.8.5 Clin Nemo1 Neurosurg 1986. Vol. 88-I.
27
Fig. 1, Case 1. Diastematomyelia
with heterotopia
~o~~~~~r~ It is not clear why gait disturbances began when the patient was 67 years old. Since 1953 he suffered from chronic bronchitis and in 1971 slight pulmonary emphysema had been found with a normal venous pressure, One may speculate that a changing oxygen supply of the spinal cord may have provoked the symptoms of a long present anomaly in an area with a marginal arterial supply. CK?e 2 P.S., male, born April 5, 1900, began to complain during his holidays in September 1973 about weakness of the left leg. Since 1970 he had had low-back-pain after a fall from a staircase. It was thought that he had a prolapsed disc L4-L5 and on myelography (September 15, $973) a small protrusion was found, which however could not explain the clinical signs. The diagnosis remained uncertain, His low-back-pain increased with radiation of the pain into his left leg and the weakness of this leg became more pronounced. Myelography was repeated (June 20, /974) which suggested a compression of the cauda equina, especially on the left side. He was referred to the neurosurgical department for exploration and a lumbal laminectomy was performed on June 24, 1974 (Prof. Dr. S.A. de Lange) but no root compression was found. Some of the roots seemed thickened and pale and part of the left LS root was removed for examination. Microscopy showed some slight degenerative changes whith focal oedema and some lymphohistiocytic infiltration. EMG-examination led to the idea of a pure motor 2x
Fig. 2. Case 2. Heterotopia
of the left posterior horn
poly~europathy from unknown origin. in the middle of 1975 he was readmitted to the neurological department of the Dijkzigt Hospital andnowadiagnosis was made of amyotrophic lateral sclerosis and polyneuropathy. This patient died on October 12, 1975 and autopsy was performed. On examination of the brain no abnormalities were found. The spinal cord was somewhat flattened with dilatation and hyperaemia of the dorsal venes in the thoracic region from Th3- 12, Microscopy revealed demyelination of the posterior columns, some irregular atrophic patches in the anterior part of the spinal cord and some atrophy of the left pyramidal tract. There was a decrease of the number of motor cells in the anterior horns, some of which were atrophic fn the ventral part of the left posterior horn a heterotopy was found, sharply delimited, in which a thin network of myelinated fibres was present, but no nerve cells (Fig. 2). There was no contact of this heterotopy with the central canal. No nerve cells were seen in Clarke’s column OR the left side, whereas this column on the right side contained some abnormal nerve cells. In the medulla oblongata, in the pons and in the mid-brain the pyramidal tracts seemed normal. Nerve cells in the thoracic and lumbar region showed some fibrillary degeneration as seen in Aizheimers’ disease. There were also some degenerative changes in the cerebellum. Comment: The clinical picture might be considered as a very atypical amyotrophic fateral sclerosis, in which the role of the spinal heterotopy remains unclear.
Fig. 3 and 4. Case 3. Anomaly of the arteria radicularis magna (Adamkiewicz)
Case 3 Mr. C.O., born October 3,1940, was known to be suffering from chronic nephritis, secundary hypertension and gout. In the early morning of April 19, 1975 he suddenly got pain behind the sternum which irradiated to the back and at the same time he felt severe pain in both legs with a feeling of pins and needles. On admission to the surgical department of the Dijkzigt Hospital he had a grey uremic aspect, a bloodpressure on the right side of 290/130 mmHg and on the left arm 230000 mmHg. His temperature was 37,5”C. Pulse 6O/min. regular and equal. His right leg was white and cold, the left leg blue and cold. There was a pronounced weakness of both legs whereas sensibility seemed normal. No arterial pulsations on the groin and in both legs could be felt. The diagnosis of dissecant aneurysm was confirmed by aortography, via the left axillary artery. Laparotomy was performed and the dissection was surgically treated. After operation there was a complete paralysis of both legs and anuria. He died a short
Fig. 5. Case 3. Heterotopic area in the thoracal spinal
cord
time after operation. Necropsy of the spinal cord was performed and we got the impression that there was some softness in the area between Th8 and ThlO. Along the root of Ll or L2 on the left side a large artery was seen, which dichotomized on the ventral side of the spinal cord; the caudal branch was rather thick, whereas the cranial branch was very thin. This caudal branch could be followed across the filum terminale (Figs. 3,4). After section of the 29
spinal cord at the level Th8 a cylindrical core of nervous tissue was seen, which had the largest diameter in its lower part. This heterotopy shows the structure of a small spinal cord (Fig. 5). The roots of this minicord are normal. In a Kluver stain the fibrebundles of this heterotopic spinal cord have an oblique course downward. In a Bodian stain the axons of these fibres are thickened and fragmentated. degenerated, These degenerated fibres seem to cross from upward to the contralateral anterior part of the spinal cord. Comment: One may conclude that these anatomical abnormalities are accidental findings, never causing neurological symptoms and compatible with normal life. The postoperative paraplegia probably has to do with the anomalous pattern of the arteria radicularis magna (Adamkiewicz).
Case 4 E.V., male, born April 17, 1957, was admitted to the intensive care department of the Dijkzigt Hospital on September 2, 1975. On August 27, 1975, he got a painful stiff feeling in both legs. followed by weakness of the legs and later on by weakness of the arms. Shortly before admission he became dyspneic. On neurological examination (Dr. H. Busch), a tetraparesis was found with areflexia and a tentative diagnosis was made of Guillain-Barre syndrome. Arteficial respiration was necessary, but this patient developed a metabolic acidosis and severe abnormalities in the E.C.G. He became comatose and died shortly thereafter, probably from renal failure with hyperkalemia. Necropsy of the spi-
Fig. 6. Case 4,Pseudodiastematomyelia
30
at the level Th 10
nal cord revealed a pseudodiastematomyelia at the level of ThlO (Fig. 6). The two malformed myela are connected with each other and in the Bodian stain of the transitional area, fragmentated axons are found. The rest of the central nervous system was normal and there was no anatomic support for the diagnosis of GuillainBarre syndrome. Comment: The clinical picture can not be explained by the malformation of the spinal cord in the lower thoracic region. Case 5
J.R., male, born April 23,1944, was admitted to the neurological department of the Dijkzigt Hospital on November 29, 1966 and transferred to the internal department on November 30. Since 1959 every year. especially in autumn, he began to complain about weakness of the legs, walking difficulties and a waddling gait. During a previous clinical observation in 1962 a complete internal and neurological examination led to the vague diagnosis of a relapsing myopathy from unknown origin. On neurological examination this thin young man had difficulties in moving his muscles which were hypotonic, the reflexes being normal. There were loud systolic and diastolic murmurs on all ostia of the heart. Extensive serological examinations on auto-immune disease, syphilis and disseminated lupus erythematodes were negative. A muscle biopsy of the calf showed signs of a myopathy, no myositis. The diagnosis remained myopathy from unknown origin. This patient suddenly died on November 5, 1966. On autopsy all organs were normal. Examination of the spinal cord (Dr. V.W.D. Schenk) revealed a rather
Fig. 7. Case 5. Diastematomyelia
of the lumbal
spinal cord
wide central canal in the cervical and thoracic cord with gliosis around the canal. The lumbar part showed an incomplete doubling of the spinal cord (Fig. 7). Co~~e~~~ It is possible that this gait-disturbances had to do with the abnormality of the lumbar spinal cord.
(Dr. V.W.D. Schenk) showed a dimyelia (Fig. 8); in some places there was a transition area between the two spinal cords (Fig. 9). Comment: This patient with a partial dimyelia without neurological symptoms during life, died from the complications of a purulent meningitis.
Case 6 D.K.-S., female, born March 9, 1918, was admitted to the intensive care department of the Hospital Ziekenzorg in Enschede on June 12, 1976 with respiratory difficulties. On June 9 she got low-back-pain and abdominal complaints with diarrhoea. There was some hypalgesia of the left leg. On June 12, she developed a weakness of both legs and both arms with pain and a complete areflexia. Further facial paralysis and a paresis of the abducent nerve on the left side were found. The total protein content of the spinal fluid was increased and the cellcount was 50:3. A diagnosis was made of the GuillainBarr6 syndrome in a patient with a pronounced kyphoscoliosis. Shortly after admission the temperature rose to 41.2%. The blood pressure fell to 70/50. The hemoglobin content of the blood diminished, due to melena and she got numerous subcutaneous haemorrhages on the thorax. In a very short time anuria, hyperkalemia and a thrombopathia developed, she became comatose with wide fixed pupils. Shortly afterwards she died. Autopsy revealed a purulent coli-meningitis, disseminated intravasal coagulation in all internal organs, haemorrhages in the brain, in the spinal cord, adrenals, etc. and a terminal haemorrhage in the brain stem. Examination of the spinal cord
Case 7 M.B., female, born January 11, 1905, was admitted to the internal department of a hospital in Delft on February 7, 1980, on account of severe back pain. Extensive internal examination showed a decalcification of the vertebral column with flattening of the vertebrae of Thll, Th12 and L2. There was a low protein content of the blood with hypo-albuminia. Neurological examination revealed signs of a polyneuropathy. After some weeks this patient could be mobilized but she suddenly died in the morning of April I, 1980. Autopsy was performed: there was an arteriosclerosis of the basal arteries of the brain and arteriolosclerosis of the small arterioles. The cause of death was a myocardial infarction. The brain was atrophic and on both sides a status lacunaris of the lentiform nuclei was found. The spinal cord seemed flattened in the high thoracic region. Microscopic examination of the levels Thl-4 showed a heterotopia in the right dorsal horn (Fig. 10). The left dorsal horn was poorly developed. There was a demyelination of the posterior roots and also of the anterior roots which seemed underdeveloped. In a Bodian stain the nerve fibres of the heterotopia were of a varying diameter and fragmentated. In the anterior median fissure a convolute of arteries was seen, with thickened and partly hyalinised walls.
Fig. 8. Case 6. Diplomyelia (dimyelia)
Fig. 9. Case 6. Diastematomyelia
31
the tumour.
Ventriculoperitoneal
drainage
was
performed, after which some improvement was noted but later on he deteriorated, he got headache, epileptic fits and he died on February 5. 1980. Autopsy showed a large tumour mass with central necrosis in the left fronto-parietal region
with the same histological
the biopsy Fig. 10. Case 7. Thoracal
symptoms
upper
heterotopia
infundibulum centre of
thoracic
during
of the dorsal horn
spinal
cord
gave
no
life.
Case 8 P.T., male, born August 8, 1969, underwent in 1976 a thoracic laminectomy, from Th5-8 inclusive, for an intramedullary benign astrocytoma grade 1 (Neurosurgical department of the Dijkzigt Hospital). Complete removal was not possible. Six weeks later the child developed a hemiplegia on the right side, due to a left frontoparietal tumour. Biopsy showed the picture of a neuroblastoma. After operation the child got radiotherapy and vincristin and in the following years several cures of CCNU and vincristin were given. In 1979 he had a generalized epileptic fit, and CT-scanning of the brain showed a hydrocephalus and a recurrence of the left fronto-parietal tumour. He was readmitted to the neurosurgical department of the Dijkzigt Hospital but shortly thereafter he suddenly got a wide fixed pupil on the right side. It was thought that this might be caused
Fig. 11. Case 8. Pseudodiastematomyelia
32
picture
There
tensive dissemination of the tumour quor spaces and inplantation-metastases
Comment: This heterotopia in the
(neuroblastoma).
by a haemorrhage
with heterotopia
in
(astrocytoma)
as in
was an exvia de liin the
and in the ventricular walls. In the an intramedullary tumour in the lumbar spinal cord there
was a cavity, the wall of which consisted of glial elements, without any connection with the central canal. Above and below this cavity a heterotopic mass was seen, which gave the spinal cord aspect pseudothe of a diastematomyelia. In this heterotopic areas central split-like cavities were seen and a focal degeneration of This the axons. pseudodiastematomyelia of the spinal cord is giving the impression of a small spinal cord within the spinal cord (Fig. 11). Comment: In this boy with two neuroectoderma1 tumours, the lumbal spinal cord showed a congenital malformation. probably without neurological symptoms. Case 9 C.A., female, born August 17, 1909, was admitted to the neurological department of the Haven Ziekenhuis in Rotterdam on December 24, 1979 and later transferred to the neurological department of the Eudokia Hospital (Dr. H.H. Vroon). In September 1979 she began to complain about weakness of the legs without sensory disturbances. This weakness increased; at the end of November 1979 she could hardly walk anymore. There were no sphincter Her previous history was disturbances. negative. On neurological examination she had a flaccid paresis of both legs which increased in distal direction. This paresis was more pronounced on the right side. The knee jerks were normal and equal, but the Achilles tendon reflex was lower on the right side. Plantar responses were normal. No sensory disturbance could be found. There was a normal spinal fluid pressure with normal manometric tests. The composition of
Fig. 12 and 13. Case 9. Pseudadiastematomyelia
the spinal fluid was also entirely normal: syphilis reactions were negative. Some osteoporosis was seen on the X-rays of the spine. The EMG pointed to a severe axonal and demyelinating polyneuropathy and in a biopsy of the right sural nerve chronic axonal disease was seen with signs of axonal regeneration. No signs of de- and remyelination, no amyloid or in~ammatary symptoms. During the clinical observation she developed a total paralysis of both legs with areflexia. There were no sphincter or sensory disturbances. The arms remained completely normal. The clinical diagnosis was a severe motor ~lyneuropathy of the legs from Her general condition origin. unknown deteriorated but the neurological symptoms remained unchanged. This patient died on July 4, 1980 and autopsy was performed (Dr. N.J.A. N~rduijn). The brain had a weight of 1300 gram and there was a slight fibrosis of the arteries. There was some frontal atrophy and a slightly dilated ventricular system. Microscopy of the spinat cord showed two 1. At the level of CS different abnormalities: there is a deformation of the right anterior horn. Instead of the normal butterfly structure of the grey matter we see irregular islands of a grey matter in some places (Fig. 12). This abnormality increases in the dorsal segments in which the right anterior horn is lengthened into the lateral direction, giving the spinal cord the picture of a pseudodiastematomyelia. The posterior columns are too large and divided by a big sulcus which connects with the posterior central sulcus. In lower sections of the cord (Th4-Th5) the central grey matter shows an irregular structure and a normal butterfly pattern is absent (Fig. 13). At ThlO the posterior
Fig. 14. Case. 9. Abnormal development of the posterior columns
columns show an abnormal development, a sort of excrescention of the spinal cord (Fig. 14). Lf to L3 are normal. 2, There is an evident demyelination of the lateral pyramidal tracts in all levels. This is less clear in the anterior pyramidal tract and in the spinocerebellar tracts. There is a spongiosis of the ascending tracts, which contrast with the rather normal structure of the posterior columns, except the above described malformation. The number of motorcells in the ventral groups of the anterior horn is diminished in all In the thoracic area with the levels. pseudodiastematomyelia there is also a pronounced dilation and increase of the capillaries of the grey matter. The meninges are thickened and the roots contain strongly dilated venes with an angioma-like aspect in some places. Comment:In the higher thoracic area the spinal cord picture of a shows the pseudodiastematomyelia, whereas in the lower thoracic segments we see a malformation of the posterior cofumns. The degeneration of the pyramidal tracts, with the decrease of the motorcells in the anterior horns are giving the impression of an amyotrophic lateral sclerosis; 33
in the area of the pseudodiastematomyelia the capillary proliferation suggests an angiomatosis. In the brain senile plaques were seen in the cortex. It is difficult to correlate the clinical pictures with the abnormalities of the spinal cord; the weakness of the legs with areflexia may be ascribed to the cell-loss in the anterior horn whereas the degeneration of the pyramidal tracts was not reflected in the clinical picture. This, however, is not unusual in amyotrophic lateral sclerosis. We do not think that the congenital malformation of the spinal cord does play a prominent role in the clinical picture and the eventual connection with the amyotrophic lateral sclerosis remains unclear. Cuse 10
W.L., born February 29, 1920, was admitted to the Antoni van Leeuwenhoekhuis in Amsterdam in November 1979 for a radical mastectomy on the right side on account of a breastcancer. After operation she got X-ray treatment. In March 1980 she developed a swelling in the right groin, which was excised. Microscopy showed a highly malignant non-Hodgkin lymphoma for which she was treated with cytostatics. In June 1980 she developed neurological symptoms for which she was seen by Dr. B.W. Ongerboer de Visser. There was a peripheral paralysis of the right facial nerve, deafness of the right ear and arefiexia of the right cornea. In the spinal fluid atypical lymphoid cells were found. An OMMAYA-system was implanted (Dr. Z.D. Goedhart) followed by intraventricular MTXtreatment. This was combined with X-ray irradiation of the base of the skull. On June 16 a
Fig. 15 and 16. Case 10. Malformation of the posterior columns
34
paresis of the right leg developed and caudography showed irregular defects at the level of the discus L4-L5. It was thought that this was due to an epidural metastasis. No tumourcclis were found in the spinal fluid anymore. X-ray treatment of the lumbosacral region was instituted. Her general condition declined. She died on December 19, 1980. Autopsy was performed (Dr. J.F.M. Delemarre). The brain and spinal cord had a weight of 1550 grams. The brain had an anaemic aspect. The meninges seemed normal. In the lumbar and thoracic part of the spinal cord some tuberous formations were seen on the posterior columns. Microscopy of these formations revealed the existence of a prohferation of nerve fibres with an abnormal structure. This abnormal fibre had a course in a dorsal direction, perpendicular on the normal course of the posterior column fibres (Fig. 15). On the lateral side of this proliferation the thickened leptomeninx is interrupted. The anterior and posterior roots have an abnormal course and are grown together with the pia, especially the anterior roots. There is a heterotopia of the grey matter (Fig. 16). In the Bodian stain of the roots a great number of axons has disappeared or have a pathological appearance. The axons in the spinal cord itself are abnormal too. fragmentated and thickened. Jn the caudal roots a pronounced degeneration of the nerve fibres can be seen. Comment: The tuberous excrescentions on the dorsal part of the spinal cord which resembled those of the previous case, have to be considered as heterotopy of the white matter which is very rare and could not be found in the
available literature. A connection with the MTX-treatment or X-ray irradiation is unlikely. The degeneration of the nerve roots may be ascribed to be chemotherapy. Case 11
C.B.M., female, born November 7, 1913, died in the internal department of the Slotervaart Ziekenhuis (Dr. L.W. Statius van Eps) on December 31, 1981 from pneumonia. She had been suffering for years from rheumatoid arthritis and shortly before death she developed a vasculatory insufficiency with a flaccid paresis of all extremities and normal sensibility. On autopsy (Dr. E. van Culik) the brain weight was 1270 grams and no microscopic abnormalities were found in the brain. However, in the low cervical region of the spinal cord the anterior horns were strongly developed with an abnormal configuration; on the ventral side they reached the surface of the spinal cord (Fig. 17). The area of the dorsal columns is too small, and mainly consists of the fasciculi graciles. A large number of the fibres has a course perpendicular to the normal course of the posterior column fibres. The abnormal fibres are fragmentated with signs of demyelination, which is also seen in the posterior roots. In the middle of the cervical cord the configuration becomes normal but there is some myelin degeneration in both posterior columns. In the high thoracic segments, the structure of the spinal cord becomes completely abnormal (Fig. 18); there are 3 deformed anterior horns and an abnormal course of nerve fibres. In these heterotopic nerves fibres fragmentation of the axons is seen.
Fig. 17. Case 11. Heterotopias
of the cervical spinal cord
Comment: The high thoracic and lower cervical spinal cord show a congenital anomaly which may be placed in the group of the pseudodiastematomyelia. The clinical picture of a tetraplegia is compatible with a circulator disturbance in the area of the anomaly. Discussion The above described group of patients consists of six males and five females, varying in age from 7 to 70 years. We have to do with different types of abnormalities: and 1. diplomyelia c.q. diastematomyelia pseudodiastematomyeiia. 2. heterotopias of the spinal cord. There is some confusion about the use of the terms diastematomyelia and diplomyelia. The name diastematomyelia has been coined by 011ivier2 in his ‘Trait6 de la moelle Cpiniere (1827). In diastematomyelia there is a partial splitting of the spinal cord in which the two parts, each spinal cord in itself, are connected. Diplomyelia is a real duplication ofthe spinal cord over a number of segments. This abnormay also be found in mality, however, diastematomyelia, so that there is no real distinction between these two conditions. Diastematomyelia c.q. diplomyelia is considered as a disturbance in the embryological development of the spinal cord which may be produced experimentally in chicken embryos and in rats. It was first produced by Hertwig in frog embryos. In diastematomyelia the split of the spinal cord is mostly in the thoracic region, sometimes
Fig. 18. Case 11. Pseudodiastematomyelia thoracal spinal cord
with heterotopia of the
35
spinal cord are seldom
mentioned
in literature.
This may be due to the fact that most of them do not give clinical signs during life. Heterotopic grey matter I
Fig
A
(case61
17
Fig
B
(case
6)
I Fia. C
(case
F1g.D
5)
(case
1)
1 -I
in the dorsal columns
spinal cord has been described Brissand5, but in the past anything
about
this
of the lumbar
by Pick4 and by decades hardly
anomaly
has
scribed heterotopic horns
of the spinal
fibre bundles
in the anterior
cord but from the clinical
point of view nothing is known about tient. Hori elul.’ described a heterotopy
Fig. E
(case
4
Fig.G
(case
7)
1
I
I
Fig
I (case8)
DIFFERENT
TYPES
Fig. F
(case
9)
Fiq. H
(case
3)
I
I
,
Fig
J
(case2)
OF ABNORMALITIES
Fig. 19. Different types of abnormalities Fig. A. Diplomyelia Figs. B and C. Diastematomyelia Fig. D. Diastematomyelia with heterotopia Figs. E and F. Pseudodiastematomyelia Figs. G-J. Heterotopias
combined with a duplication of the meningeal membranes. In quite a number of cases the spinal canal is wider than normal and the split spinal cord is divided by a bony spur. Often there is a fixation of the spinal cord. The two halfs of the cord are rotated over 90” so that the ventral parts of each cord face each other. In man the real cause of the embryological disturcausing diastematomyelia is still bance unknown. Some investigators think that there is some failure in the closure of the embryonic neural tube, but another group thinks that after closure of this tube there is a reopening or rupture. The hypothesis of the primary non-closure has the most adherence. Heterotopias in the 36
been
published. Ostertagf’ does not mention this subject nor is it found in Greenfield’. Bebris” de-
this paof grey
matter in the centre of the superior cervical cord and in the dorsal part of the medulla oblongata in a child with Gruber’s syndrome, that died four days after birth. In another paper Hori et al. I0 give a description of 4 rare types of duplication of the spinal cord: complex dimyelia, diplomyelia, typical diastematomyelia and diastematomyelia. One case concerned a complete doubling of the spinal cord in a dicephalus abrachus with multiple abnormalities of visceral organs. A second case concerned an accessory spinal cord, ventral of the normal spinal cord in the region of LS-cauda without parenchymatous connection. Intramedullary diplomyelia has been described by Loblich”. In his case the small heterotopic spinal cord was situated in the posterior columns from L2 to S4. He considered this as a pencilike diplomyelia or intramedullary diastomatomyelia, due to developmental disturbances in the fourth to fifth embryonic months. In Griepentrog’s’? malformation there was a second spinal cord on the ventral side of the main spinal cord in the thoracic region. Both spinal cords were connected with eachother. Similar cases had been described previously by Von Santha” and by Haas14. We do not agree with the opinion of 0stertag6, that the cases of Loblich and Griepentrog are artifacts due to non-correct removal of the spinal cord at autopsy. Our case 3 has a close resemblance to that of Loblich. Only the situation of the minor cord is somewhat different. diastemadescribed Garza-Mercado’” tomyelia and intramedullary epidermoid spinal cord tumour in combination with an extradural teratoma in an adult. This also supports the embryonic genesis of the above described
malformations. The problem is why clinical neurological signs of these developmental spinal abnormalities often occur in later life. We think that circulatory disturbances in the area of the spinal malformation, possibly in combination with a diminished perfusion, may play a role. In our case 3, there was an anomalous division of the artery of Adamkiewicz. A diminished perfusion of the spinal cord may be caused by circulatory disturbances due to the terminal disease and arteriosclerosis as a large number of patients are oi advanced age. If these circulatory disturbances do not occur, it is quite probable that many congenital abnormalities of the spinal cord remain silent and undetected. Only routine autopsy of a large number of spinal cords could give us an idea about the incidence of these congenital malformations.
2
3
4
We are indebted to Dr. B.W. Ongerboer de Visser, consulting neurologist, for the clinical details of case 10, to Dr. Th. Vroom and Dr. G. Brute1 de la Rivitre (Department of Pathology, Slotervaart Hospital) for case 11 and to Miss D. Kiers (Department of Clinical Pathology, Erasmus University, Rotterdam) for technical assistance. Miss M. v.d. Elzen gave us much help during the preparation of the manuscript.
UND
1878;
PATHOLOGISCHEN ARCH
PSYCHIAT
283-309.
BRISSAND E. LeGons sur les maladies nerveuses. Masson, Paris, 1895. ‘6 OSTERTAG B.Missbildungen.Grundziige der Entwicklung und Fehlentwicklung. In: Handbuch der Spieziellen Pathologischen Anatomie u. Histologie. XIII Bd: Nervensystem. W. Scholz, ed. Berlin: Springer/Verlag, 1956. 7 GREENFIELD JG. Neuropathology. 3rd. ed. 1976. London: E. Arnold. 8 BEBRIS A. Un cas d’heterotopie de la substance blanche dans la come antCrieure de la moelle chez l’homme. Comptes Rendus de Biologie, Paris 1929; 539-40. 9 HORI A, ORTHNER H, KOHLSCHtilTER A, SCHOTT KM,
II I2
I3
I5 Diastomyelia-diplomyelia. In: Vinken PJ, Bruin GW, eds. Handbook of Clinical Neurology 1978; 32:239-54. PE.
NORMALEN
5
References SHEFTAK
ZUR
DES ZENTRALNERVENSYSTEMS.
NERVENKRANKHEITEN
I4
I
PICK A. BEITRAGE ANATOMIE
lo
Acknowledgement
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HIRABAYASHI K, SHIMOKAWA K. CNS Dysplasia in Dysencephalia Splanchnocystica (Gruber’s Syndrome). Acta Neuropath (Berlin) 1980; 51:93-7. HORI .4, FISCHER c, DIETRICH-ScH0m B, IKEDA K. Dimyelia, diplomyelia and diastematomyelia. Clin Neuropathol 1982; 1:23-30. L~BLICH HJ. Intramedulllre Diplomyelie. Zbl Allg Path01 u Path Anat 1953; 90-1, 373-80. GRIEPENTROG F. Eine seltene Form von Riickenmarksmissbildung (partielle unfreie Diplomyelie). Zbl Allg Path01 u Path Anat 1953; 90-1, 380-4. SANTHA K VON. Ueber das Verhalten des Kleinhirns in einem Falle von endogen-famililrer Idiotic, nebst Beitrag zur Lehre der Diplomyelie. Z Neurol Psychiat 1939; 123:717-93. HAAS E. Eine fortsatzlhnliche Missbildung des Riickenund markes ihre Abgrenzung von den Diastematomyelien. Zentralbl Path01 1952; 88:16-20. GARZA-MERCADO
R. Diastematomyelia
and
intramedul-
cord tumor combined with extradural teratoma in adult. Case Report. J Neurosurg 1983; 58:954-8. lary
epidermoid
spinal
37