MONGOLISM IN TWINS

802

CLINICAL AND LABORATORY NOTES

gouge, the bone being No obvious lesion of the antro-tympanic roof or in the neighbourhood of the horizontal semicircular canal could be found, and the dura mater was rapidly exposed and incised. The cerebrospinal fluid that escaped did not appear to be blood-stained, but it became so quickly mixed with blood from the wound that this point could not be definitely decided. There was no bulging of the brain and no well-defined pulsation. The temporo-sphenoidal lobe was explored without result. An attempt was then made to work backwards in order to

operation, it

very hard.

enlarged with the chiselling was done.

was

No

explore the cerebellum, but the patient’s condition became so serious that it was not possible to proceed and she was

sent back to the ward. On her return she was very restless, but lapsed into coma during the night. The pulse was small and irregular, the pupils dilated and reacting neither to light nor accommodation, and there was incontinence of .

,

^

I

urine and fseces. on Dec.

She died at

9th.

1 P.M.

Cerebro-spinal fluid.-The report upon the fluid obtained by lumbar puncture was : cells, 115 per

c.mm. ;

albumin,

0’25 per

cent.; globulin reading, markedly positive. A large number of Streptococcus in the film culture gave a nonheamolytic S. longus.

longus

and

was seen

a

Post-mortem examination

(Dr. Piggot).-On removing the skull-cap and brain a large subarachnoid haemorrhage was found, the blood clot filling up the interpeduncular space, spreading forwards over the corpus callosum and outwards along both Sylvian fissures. There was an aneurysm about the size of a large marrowfat pea situated at the junction of A = site of aneurysm. the left internal carotid, middle, and anterior cerebral arteries (see Figure), pressing upon the left optic tract, with a small rupture on the under surface from which had occurred the haemorrhage above described. The brain showed no abscess or any gross lesion, and the tracks made by the operative exploration had not reached the lateral ventricle. The fluid in the ventricle was blood-stained. The blood-vessels The other organs of the body were degenerated.

were healthy.

REMARKS

(M. Y.).—In many years of active experience of acute mastoid surgery and its complications, I have never met with a case like the above. Considering the indentation made by the aneurysm on the left optic tract, the presence of hemianopia would have been expected, but no indication of this appears in the notes. That the ear condition was an independent accidental circumstance goes without saying, and its occurrence on the same side as the aneurysm added to the difficulties of diagnosis only when cerebral complication appeared certain. Although aneurysms of this nature are not uncommon, I have never yet personally encountered one as a concomitant of mastoid surgery, nor have I met with any account of one in the literature. The question which arises most prominently in the case here described is that of the time at which the haemorrhage commenced. From the unstained character of the fluid obtained by lumbar puncture just before the cranial operation, combined with the absence of any symptom of subarachnoid haemorrhage at the consultation immediately preceding and the patient’s restlessness before she became comatose suggests that rupture of the aneurysm took

after the return to the ward. On the other hand : (1) there may have been small and intermittent leakages about the time the patient became drowsy and mentally confused ; or (2) rupture may have taken place during her removal to the theatre, or when shewas on the table during the induction of anaesthesia. It is not possible to say whether the cerebro-spinal fluid which escaped on incising the dura mater was clear or not because of its immediate admixture with One cannot be blood from the wound cavity. dogmatic upon one symptom and, personally, I do not think it possible to decide with certainty when

place

the

bleeding began. (A. P. P. ).-Such aneurysms of

the vessels at the base of the brain are not uncommon and may be met with in three distinct types : (a) congenital, very small in size and situated at the angle of junction of two vessels-absence of the muscular coat has been noted at the junction ; (b) embolie; (c) arterio-sclerotio, of variable size. In some eases pressure symptoms may be present, the motor nerves to the eyes being most often involved. In the majority of cases the first intimation of the presence of an intracranial aneurysm is the occurrence of a subarachnoid haemorrhage

following rupture. MONGOLISM IN TWINS BY P. M. G. RUSSELL, M.B., B.S. LOND. ASSISTANT ON THE OBSTETRIC UNIT, UNIVERSITY COLLEGE HOSPITAL, LONDON

I PROPOSE to report a fresh case of Mongolism in both of twins, and briefly to review the literature on Mongol twins with its bearing on the aetiology of this form of idiocy. Mrs. R., aged 39, 3-para., was admitted to University College Hospital for mitral stenosis and twin pregnancy in January, 1932. Her Wassermann reaction was negative. She was discharged after rest and readmitted in labour on July 16th. The twins, both female, were born as normal vertex presentations. There was no hydramnios. The birth weights were 2690 g. each-head circumferences 12 and 13 in., brachycephalic in shape. Mongoloid stigmata-viz, epicanthus, muscular hypotonia, protruding tongues, and incurving of the little fingers were present in both from ,

birth. The

.

which was single and showed two complete (chorion and amnion), was injected through the cords with barium sulphate. By this means no anastomosis. whatever could be demonstrated in stereoscopic X ray photographs. The twins are, therefore, by the usually accepted criteria binovular. They have since been kept under observation and pronounced by Dr. W. J. Pearson to be undoubtedly Mongol idiots. One has since died of enteritis at the age of 5 months, but the other is still well though obviously idiotic. The importance of this case lies in that when Mongolism occurs in twins by far the commonest type is where one twin is a Mongol and one normal. I have seen two such cases in U.C.H. Obstetric Hospital, and have collected 34 more (omitting doubtful cases such as those of Fraser and Mitchell-1). These are here summarised, and include the cases of Harbertsma, Bauer, Orel, and others. Probably other cases occur and have escaped record.

foetal

placenta,

sacs

’

Twins of different sex-i.e., binovular .. Twins of same sex (uniovular 6, binovular 3, doubtful 7) ......

17

cases.

16

"

The frequency of this type of incidence-i.e., where one infant is a Mongol and the other normalhas led to widespread belief that Mongolism is in some way due to germinal defect. Thus, Harbertsma,s Waring,5and others have put forward this fact as

ROYAL SOCIETY OF MEDICINE : SURGERY

evidence to support their conviction that Mongolism This theory was a defect innate in the germ-plasm. would on the face of it seem rational, since if Monwere due to some form of maternal debility abnormal environment of the ovum (the " exogene Ursache " of Orel,4 and others) the common type would be where both twins are Mongols. Actually It is true that at the time this is extremely rare. when Fraser and Mitchell1 wrote about their " Kalmuc Idiots " these were thought to be due to maternal exhaustion, since they often came at the end of a family. More recent analysis, however, has shown that this is not true. Brousseau,out of 800 cases, found that 24 per cent. were first-borns and 57 per This high cent. the first, second, or third child. incidence in first children has been confirmed by Reuben and Klein.7 Harbertsma, it is true, was aware of two cases of Mongolism in both of twins reported by Hjorth and de Bruin, but the twins were of the same sex, and hence assumed to be uniovular, so that his theory of germinal defect was in no way upset. Even by the time Brousseau had written her excellent study of Mongolism only five cases of this type (both twins, Mongols) had been reported. Each pair of twins were of the same sex, and, therefore, were regarded as being ipso facto uniovular (monozygotic ). These with two more cases including our own form the Table which follows :-

golism or

Both Twins, De Bruin :

Mongols

Quoted by Harbertsma ’2

Hjortb:

"

"

..

..

Strauch 10 : Jour. of Amer. Med. Assoc., 1923, lxxxi.,2181 Brukner : Quoted by Orel...... Reuben and Klein7 ......

........

Bauer

MM FF MM FF MM

3

.....1 ...... FF 3sex Dikey : Quoted by Bauer Russell.. FF

in mind the

rarity of Mongol idiocy, the infinitesimally slight that two ova should become simultaneously fertilised out of the large number which ovulate during a woman’s child-

Bearing

chances

seem

803

bearing life,

and both bear this hypothetical germinal Yet our own case is undoubtedly one of The coincidence is, of course, binovular twins. seems to stretch credulity in the "gerbut possible minal theory " to its utmost, particularly as it now seems quite possible that the few other recorded cases may also have been binovular, for none appears to have been properly investigated. This, of course, is surmise, but the existence of binovular twins, both Mongols, makes it seem unlikely that the cause of" Mongolism is any more " innate in the germ-plasm than due to maternal causes or abnormal environment of the ova. Indeed, one fact seems to stand out from the prodigious literature on Mongolismthat no single setiological factor can stand the test of being applied to all cases. Of all the " causes "

defect.

suggested, syphilis, maternal exhaustion, atavism,9 germ-plasm defect, neuropathic familial taint, all may be said to be "not proven." The condition seems to be a summation of physical and mental defects, which, present in varying degree, may produce anything from an intelligent child with mongoloid stigmata to a Mongol idiot. These interesting cases of Mongol twins deserve further investigation. ,

SUMMARY

1. A new case of binovular twins, both Mongols, is described. 2. The theories of aetiology, especially that of " germ.plasm defect," are discussed and shown to be ’

unsatisfactory. REFERENCES 1. Fraser: Jour. Ment. Sci., 1877. 2. Harbertsma, T. : Amer. Jour. Dis. Child., 1923, xxv., 350. 3. Bauer, E. : Arch. f. Kinderh., 1930, xc., 169. 4. Orel, H. : Zeits. f. Kinderh., 1926, xlii., 440. 5. Waring, J. I.: Amer. Jour. Dis. Child., 1931, xli., 351. 6. Brousseau, K. : Mongolism. Baltimore: Williams and Wilkins, 1928. 7. Reuben and Klein : Arch. Pediat., 1926, xlii., 552. 8. Goddard, H. H. : Jour. Amer. Med. Assoc., 1924, lxxxii., 1196. 9. Crookshank, F. G. : The Mongol in our Midst. London: Kegan Paul, 1931. 10. Strauch, J. : Jour. Amer. Med. Assoc., 1923, lxxxi., 218.

MEDICAL SOCIETIES usually some type of discomfort after food, possibly amounting to actual pain and vomiting, possibly only to a flatulent distension. Sometimes the symptoms resembled those of gall-stones and the SECTION OF SURGERY difficulties of diagnosis had been increased intwo AT a meeting of this section on April 5th Mr. HUGH his cases by the actual presence of gall-stones of LETT, the president, took the chair, and a paper on as a complication. Between attacks the hernial Diaphragmatic Hernia contents in some cases undoubtedly returned to the He began by abdomen, and there was a danger that, at operation, was read by Mr. T. P. DUNHILL. - distinguishing betweeen true diaphragmatic hernia some concurrent condition, such- as gall-stones, and the condition of short cesophagus with thoracic might be blamed for the symptoms, the hernia being missed. This had almost certainly happened in one stomach. Some writers on the subject, he said, had not of his cases, in which, after the removal of gall-stones made this distinction, but it was an important one. at a previous operation, the attacks had recurred, He had himself seen and operated on five cases of and were found to be due to diaphragmatic hernia. cases of and had seen seven diaphragmatic hernia, Other symptoms noticed in his cases were haematemesis short oesophagus in which the stomach was, to varying degrees, intrathoracic. The reported cases of and asthmatic attacks. The visceral contents of the diaphragmatic hernia were very few in number, and hernial sacs varied within wide limits ; there might be stomach only, or a large part of the small or large most of them came from the American clinics, Hedblom having reported 19 and Harrington 30. intestine might be in the thorax. Operation- was It was rare for more than one case to occur in the usually very successful, but one of the five cases in practice of any individual surgeon and it was therefore this series had ended fatally, the patient dying on the tenth day of. a pulmonary embolism. important that single cases should be reported. In Mr. Dunhill gave a brief description of his own another case some of the symptoms had returned after cure of the hernia, and radiography gave definite cases, illustrating the clinical histories with radiotaken evidence of a gastric ulcer. The actual site of the before and after The grams operation. symptoms might go back over several years, but hernia varied. One of the largest was a retrogiphoid tended to recur. in attacks of increasing severity. hernia ; others occurred through the cesophageal ROYAL SOCIETY OF MEDICINE

There

was