Shota Miyake

Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome

We compared the neuropathological findings in two cases of the Walker-Warburg syndrome (WWS) with those in 6 of Fukuyama-type congenital muscular dystrophy (FCMD). Remarkable differences were noticed between the two conditions. The central nervous system (CNS) dysplasia in WWS, which involved diffuse agyria and hydrocephalus, was more severe than that in FCMD. In WWS the septum pellucidum was absent, and the corpus callosum, basal ganglia and thalami were markedly hypoplastic. The cerebellum was severely hypoplastic and the vermis was partly absent. The pyramidal tracts could not be identified. On the other hand, the general configuration of the CNS was well preserved in FCMD. The cerebral cortices exhibited diffuse or focal micropolygyria with or without a few pachygyric lesions, but the severity was variable. The cerebellum was not hypoplastic, but exhibited focal micropolygyria. The pyramidal tracts were aberrant. WWS and FCMD, however, did not show any distinct differences on microscopic analysis of the cerebral cortices. There was leptomeningeal glio-mesenchymal overgrowth, and the horizontal lamination of the nerve cells was distorted throughout by proliferating gliovascular bundles or septa. We found in this study that the CNS pathology in WWS was compatible with type II lissencephaly, and thus differed from that in FCMD. Hypoplasia of the cerebellum and a partial absence of the vermis also seemed to be predominant features of WWS, which can be used to differentiate WWS from FCMD. In this study, we concluded that FCMD and WWS are different disease entities because they differ in their clinical manifestations, including eye lesions and CNS pathology, and because no familial concomitance of FCMD and WWS has been reported.

Observations of muscle plasma membrane undercoats in Duchenne and fukuyama muscula dystrophies

Muscle plasma membrane undercoats were investigated by conventional electron microscopy in both Duchenne muscular dystrophy (DMD) and Fukuyama congenital muscular dystrophy (FCMD). The densities of the plasma membrane undercoats were rarefied in the parts of the plasma membranes overlying the degenerating focus in both DMD and FCMD myofibers. The degree of rarefaction tended to be parallel to the degree of degeneration in the myofibers. It was hard to distinguish the undercoat densities of normal-looking myofibers of DMD and FCMD muscles from those of control myofibers from histochemically-normal muscles. On the other hand, the undercoats of regenerating myofibers in DMD and FCMD muscles were denser than normal.

Clinical Course of Epilepsies with Cortical Dysplasia.

ized epilepsy was seen in 18 (17.8%) cases, idiopathic in seven and symptomatic in 11, but 10 cases could not be classified. According to Ohtahara’s classification of FC, the past FC in 27 (26.7%) patients was a simple FC, but none was observed in children with symptomatic epilepsy. A clinically complex FC was found in 100% of symptomatic epilepsy patients compared with 40% of cryptogenic localization-related or 42.9% of idiopathic generalized epilepsy patients. The 3 18 children with FCs were classified as simple FC in 54 (17.0%), complex FC in 166 (52.2%), and epileptic FC in 98 (30.8%), based on Ohtahara’s classification, as judged from initial EEG findings. During follow-up, afebrile seizures were observed in 38 ( I 1.9%) cases: four (5.6%) with a simple FC, 16 (10.8%) with a complex FC, and 18 (17.3%) with an epileptic FC. All afebrile seizure cases that developed from simple or complex FC showed epileptic discharge in follow-up EEG. By using the international classification of epilepsy, there were 29 localization-related epilepsy cases, 22 symptomatic and seven cryptogenic. Nine cases developed generalized epilepsy, four idiopathic and four symptomatic, including one with West syndrome. Abnormal neurologic findings, epileptic EEG discharges (p < 0.01), and a history of suspected brain damage (p < 0.05) were often found in patients in whom afebrile seizures occurred, compared with those who did not. Epileptic EEG discharge was found in 22 (40.7%) cases with simple FC and 99 (59.6%) with complex FC during follow-up. Including the original 105 epileptic FC cases, the detection rate of epileptic EEG discharge was 68.2% in all FC cases. Epileptic EEG discharge was most frequently noted between ages 3 and 5 years. This age distribution is essentially the same as that for afebrile seizures in children with epilepsy and a history of FC. The epileptic EEG discharge in FC could be focal (central, occipital, frontal or parietal, in order of occurrence) or diffuse or both. Even with localization of focal discharge, these observations were essentially the same as those for children with epilepsy with an FC history. Our results suggest the importance of epileptic EEG discharge during FC follow-up. Afebrile seizures appeared most often within a year after the first FC and at age 3-4 years. Epileptic EEG discharge was most frequently detected at age 3 to 5 years. These findings warrant careful consideration in the treatment and prognostication of FC.

Herpes simplex encephalitis treated with adenine arabinoside

We report a case of a 5-year-old girl with herpes simplex encephalitis (HSE) who was treated with adenine arabinoside (ara-A). The characteristic symptoms consisted of headache and vomiting followed by progressive disturbance of consciousness. CT scan revealed a translucent area in the left temporal lobe. Seven days after the onset vigorous treatment including ara-A was initiated. She recovered without apparent toxicity or sequelae except for mild motor aphasia. Our experience suggests that ara-A is effective in the treatment of HSE if given early enough.

Sodium valproate and thrombocytopenia

Thrombocytopenia has been occasionally reported in patients on sodium valproate. Here is reported a 6-year-old boy on this drug who was found to have thrombocytopenia 6 months after initiation of administration and it was progressive up to 16 months. Though the medication was continued because of its efficacy, platelet count gradually recovered to the normal level spontaneously. Throughout the course, no hemorrhagic tendency was observed clinically. It was suggested that platelet count should be monitored periodically, but that the presence of thrombocytopenia itself does not serve as an absolute indication for discontinuing the drug.

Schoolchildren with Epilepsy: Epidemiological and Longitudinal Studies on Questionnaire for Teachers at Intervals of 12 Years

For a long time we studied about lifelimiting factors for children with epilepsy through questionnaires for parents, teachers and pediatricians. In consequence comprehensive information on the medical, educational, familial, and other environmental factors was obtained. The purpose of this study was to find the difference about the school life of children with epilepsy from 12 years before to the present by means of a teacher’s point of view.

Type II Fiber Myolysis in a Patient with Hypocarnitinemia

The repeated muscle biopsy findings in a female affected by hypocarnitinemia were reported. Electron microscopic (EM) examination revealed degeneration of Type II fibers as well as lipid accumulation in Type I fibers during an episode mimicking the Reye syndrome (mRS), and no morphological abnormality in the subclinical stage. There was no previous information on myolysis of Type II fibers in patients with carnitine deficiency (CD). However, this study showed that Type II fibers were more severely affected than Type I fibers during exacerbation in patient with CD.

Congenital hypomyelination polyneuropathy — a study of two cases

Congenital hypomyelination polyneuropathy a study of two cases Sumimasa Yamashita ‘, Shota Miyake a, Michiko Yamada ‘, Hiroko Iwamoto a and Nobuko Misugi b (” Diuision of Child Neurology and b Division of Orthopedics, Kanagawa Children’s Medical Center, Yokohama, Kanagawa, Japan) This disorder was described by Lyon in 1969 for the first time, and proposed to be a new disease entity by Kennedy in 1977. We present two cases of the disorder. Case 1: A lo-year-old boy was born to healthy parents but suffered from severe neonatal asphyxia. He was discharged from hospital at the age of 3 months. He needed N-G tube feeding until the age of 1 year. His motor development was delayed in infancy. He could walk with support at the age of 3 years. He was admitted to our hospital for complete examination at 10 years of age. His intelligence was normal. He exhibited hypotonia, muscle weakness with distal dominance, total areflexia, and mild sensory disturbance. The motor nerve conduction velocity (MCV) of the median nerve was 3.0 m/s and that of the peroneal nerve was unmeasurable. Needle electrode examination revealed neurogenic muscle activities. His cerebrospinal fluid (CSF) protein level was 167.8 mg/dl. Case 2: A 6-year-old girl was born uneventfully. Her feeding, however, was poor and she was a floppy infant. She could sit alone at the age of 1 and walk with support at 2. Her mental development was normal. At age 6, her neurological status comprised hypotonia, muscle weakness with distal dominance, and total areflexia. Finger oscillation on finger to nose examination and mild sensory disturbance were also found. MCV of individual nerves was not detectable. The CSF protein level was 103.9 mg/dl. A sural nerve biopsy in both cases showed typical histological findings. An electron microscopic study revealed many large axons with very thin myelin sheaths, axons with absent myelin sheaths which were termed naked axons, and many atypical onion bulbs comprised by a concentric arrangement of double layered basement membranes without a Schwann cell cytoplasm. The fiber density of large axons was also decreased. Schwann cells formed irregular cytoplasmic processes and collagen pockets. Congenital hypomyelination polyneuropathy can be considered to be a disease entity separate from HSMN type III. The outstanding clinical feature of this condition is a nonprogressive course.

Social Aspects: Problems of the Notification of the Name of Epilepsy: Questionnaire Study for Parents, Teachers and Pediatricians

With a view to enhancing the quality of life of the children who have epilepsy, it is necessary that the treatment should be given them not only in its narrow sense, but also in its real sense covering all matters concerning their lives. Here arises the problem of the notification of the name of the disease for which their parents are most concerned. Since we approached their parents’, teachers2 and physicians’ with this problem, we found out how they think about it, and studied what should be done in future, and the reports are shown hereunder.

Comprehensive Management of Children with Epilepsy—From Standpoint of a Medical Practitioner in Children's Hospital

A research group concerning the genesis and treatment of intractable epilepsy of the Ministry of Health and Welfare reported regarding the frequency of intractable epilepsy of children. This research group selected 1,581 children with epilepsy who were followed up for over 3 years. Among them only 2 I2 cases ( 13.47% ) were evaluated as intractable epilepsy. Then these cases were thoroughly analyzed and carefully treated. As a result about half of the cases had their seizures markedly decreased. In our hospital the proportion of the doubleand triplehandicapped children is high. Therefore, the proportion of intractable epilepsy is high with 16.4%. The number of children with intractable epilepsy has recently been decreasing. To decrease the number further, we should make more efforts not only to develop epileptological science but also to improve their living environment. Thereupon, for the latter case, we began publishing many printed