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Congenital muscular dystrophy of a non-fukuyama type
LETTER TO THE EDITOR
Congenital Muscular Dystrophy of a Non-Fukuyama Type To the Editor: I have been very interested by doctors. Castro-Gago and Pena-Guitian's letter in the first issue of 1988 of the journal [1). They consider that their patient, as others, constitute an intermediate form between the Fukuyama's type and the classical occidental type of congenital muscular dystrophy (CMD). Clinical aspects identical to those reported by these authors have soon been observed, and seem to be original, and different of the other forms of CMD [2-5). These patients have muscular weakness present since birth, with then delayed milestones, hypotonia, amyotrophy, involvement of the facial musculature, areflexia, multiple joint con tractures - including skull - and some striking dysmorphic features: macrocephaly, long and thin face, high arched palate, and abnormalities of jaw articulations. The IQ is normal or slightly lowered. Some patients have epileptic seizures, others not. After a slight improvement of the motor status during the first years of life, a slow worsening is observed dUring the second decade. All these patients have a marked white matter hypodensity on CT scan, with, in one case, a spongy appearance of white matter on necropsy [4), without any change usually seen in the Fukuyama's type of CMD (FCMD). On the other
hand, the scannographic white matter hyperlucency persists after several years (7 years in our previously described patient [3]); this is not in agreement with the normalisation observed in FCMD, where a dysmyelination processing is suspected to be responsible. For all these reasons, these patients seem to constitute an original form of CMD different from the Fukuyama's type. But it is premature to call them "occidental-type cerebromuscular dystrophy," because some observations reported as FCMD even in Japan perhaps correspond to the same disease. REFERENCES 1. Castro-Gago M, Pena-Guitian J. Congenital muscular dystrophy of a non-Fukuyama type with characteristics CT images. Brain Dev (Tokyo) 1988;10:60. 2. Bernier JP, Brooke HM, Naidich TP, Carroll JE. Myoencephalopathy: cerebral hypomyelination revealed by CT scan of the head in a muscle disease. Trans Ame Assoc 1979; 104: 244-6. 3. Echenne B, Pages M, Marty-Double C. Congenital muscular dystrophy with cerebral white matter spongiosis. Brain Dev (Tokyo) 1984;6:491-5. 4. Echenne B, Arthuis M, Billard C, et al. Congenital muscular dystrophy and cerebral CT scan anomalies. J Neural Sci 1986;75:7-22. 5. Brooke MH. A clinician's view of neuromuscular diseases. 2nd Ed. Baltimore: Williams & Wilkins, 1986:246-8.
B. Echenne, Prof Pediatric Neurology Unit, Centre Gui de Chauliac, F-34059 Montpellier, France
Book Review Van Nieuwenhuizen 0 Cerebral visual disturbance in infantile encephalopathy (Monographs in ophthalmology) Dordrecht ·Martinus Nijhoff/Dr W Junk Publishers, 1987: 204 pp Reviewed by Eiji Oka, MD Department of Child Neurology, Okayama University Medical School, Okayama, Japan
This book is another in the series "Monographs in Ophthalmology," which has been published since 1981. Another current volume in the series deals with "Eye movement disorders." The title of this volume contains two uncommon terms "cerebral visual disturbance (CVD)" and "infantile encephalopathy (IE)." CVD refers to visual dysfunction caused by disturbance of the visual system located poste-
rior from the optic chiasm. Visual abnormality due to cerebral disturbance is generally referred to as "cortical blindness" or "cerebral blindness." The author, Onno van Nieuwenhuizen has excluded the word "blindness," i.e., complete loss of visual acuity, and has used the word CVD as a broader concept that includes various abnormalities of visual acuity, visual field and visual perception. IE is another unusual term. "Cerebral palsy" is commonly used to indicate persistent cerebral dysfunction occurring as a result of nonspecific cerebral damage induced by various causes in fetal, perinatal and early infantile stages. Arguing that the concept of "cerebral palsy" indicates motor disturbance, the author uses IE as a broader term to include various types of cerebral dysfunction such as motor disturbance, sensory disturbance, mental disturbance, convulsive disorder, behavior disorder, and so on. "Infantile" as used in this title, dose not refer to the infantile stage of the subject, but categorizes the past
Letter to the editor/Book review 397
Congenital Muscular Dystrophy of a Non-Fukuyama Type To the Editor: I have been very interested by doctors. Castro-Gago and Pena-Guitian's letter in the first issue of 1988 of the journal [1). They consider that their patient, as others, constitute an intermediate form between the Fukuyama's type and the classical occidental type of congenital muscular dystrophy (CMD). Clinical aspects identical to those reported by these authors have soon been observed, and seem to be original, and different of the other forms of CMD [2-5). These patients have muscular weakness present since birth, with then delayed milestones, hypotonia, amyotrophy, involvement of the facial musculature, areflexia, multiple joint con tractures - including skull - and some striking dysmorphic features: macrocephaly, long and thin face, high arched palate, and abnormalities of jaw articulations. The IQ is normal or slightly lowered. Some patients have epileptic seizures, others not. After a slight improvement of the motor status during the first years of life, a slow worsening is observed dUring the second decade. All these patients have a marked white matter hypodensity on CT scan, with, in one case, a spongy appearance of white matter on necropsy [4), without any change usually seen in the Fukuyama's type of CMD (FCMD). On the other
hand, the scannographic white matter hyperlucency persists after several years (7 years in our previously described patient [3]); this is not in agreement with the normalisation observed in FCMD, where a dysmyelination processing is suspected to be responsible. For all these reasons, these patients seem to constitute an original form of CMD different from the Fukuyama's type. But it is premature to call them "occidental-type cerebromuscular dystrophy," because some observations reported as FCMD even in Japan perhaps correspond to the same disease. REFERENCES 1. Castro-Gago M, Pena-Guitian J. Congenital muscular dystrophy of a non-Fukuyama type with characteristics CT images. Brain Dev (Tokyo) 1988;10:60. 2. Bernier JP, Brooke HM, Naidich TP, Carroll JE. Myoencephalopathy: cerebral hypomyelination revealed by CT scan of the head in a muscle disease. Trans Ame Assoc 1979; 104: 244-6. 3. Echenne B, Pages M, Marty-Double C. Congenital muscular dystrophy with cerebral white matter spongiosis. Brain Dev (Tokyo) 1984;6:491-5. 4. Echenne B, Arthuis M, Billard C, et al. Congenital muscular dystrophy and cerebral CT scan anomalies. J Neural Sci 1986;75:7-22. 5. Brooke MH. A clinician's view of neuromuscular diseases. 2nd Ed. Baltimore: Williams & Wilkins, 1986:246-8.
B. Echenne, Prof Pediatric Neurology Unit, Centre Gui de Chauliac, F-34059 Montpellier, France
Book Review Van Nieuwenhuizen 0 Cerebral visual disturbance in infantile encephalopathy (Monographs in ophthalmology) Dordrecht ·Martinus Nijhoff/Dr W Junk Publishers, 1987: 204 pp Reviewed by Eiji Oka, MD Department of Child Neurology, Okayama University Medical School, Okayama, Japan
This book is another in the series "Monographs in Ophthalmology," which has been published since 1981. Another current volume in the series deals with "Eye movement disorders." The title of this volume contains two uncommon terms "cerebral visual disturbance (CVD)" and "infantile encephalopathy (IE)." CVD refers to visual dysfunction caused by disturbance of the visual system located poste-
rior from the optic chiasm. Visual abnormality due to cerebral disturbance is generally referred to as "cortical blindness" or "cerebral blindness." The author, Onno van Nieuwenhuizen has excluded the word "blindness," i.e., complete loss of visual acuity, and has used the word CVD as a broader concept that includes various abnormalities of visual acuity, visual field and visual perception. IE is another unusual term. "Cerebral palsy" is commonly used to indicate persistent cerebral dysfunction occurring as a result of nonspecific cerebral damage induced by various causes in fetal, perinatal and early infantile stages. Arguing that the concept of "cerebral palsy" indicates motor disturbance, the author uses IE as a broader term to include various types of cerebral dysfunction such as motor disturbance, sensory disturbance, mental disturbance, convulsive disorder, behavior disorder, and so on. "Infantile" as used in this title, dose not refer to the infantile stage of the subject, but categorizes the past
Letter to the editor/Book review 397