A case of Isaacs syndrome with high CSF protein and a large cisterna magna.

An 11-year-old boy exhibited continuous muscle fiber activity. He had suffered from stiffness of his hands, difficulty in relaxing his hands after gripping, and making skilled movements with his fingers. His clinical symptoms improved after treatment with carbamazepine. Electromyography (EMG) showed that he had continuous electrical discharges both at rest and during sleep. These discharges completely disappeared after the peripheral nerve was blocked with Lidocaine. An evoked electromyogram showed suppression of abnormal discharges after the F response. These electrophysiological findings indicated that the disorder originated in the spinal anterior horn cells. CT scanning showed a large cisterna magna in the posterior cranial fossa. Protein in the cerebrospinal fluid was elevated.

Partial trisomy 22 with Dandy-Walker malformation.

Partial trisomy 22 usually occurs through a 3:1 meiotic segregation of the parental 11q;22q translocation carrier, which is the most common balanced translocation in man. Common neurologic findings are delayed psychomotor development and muscular hypotonia. There have been a few neuroradiologic and neuropathologic studies, which include ventricular dilatation, arrhinencephaly, and aplasia or hypoplasia of the cerebellar vermis, corpus callosum and pons. We here add one patient with partial trisomy 22 who had, in addition to the usual features, Dandy-Walker malformation, which, to our knowledge, is a previously undescribed feature.

Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy).

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.

Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study.

Seven muscle biopsies from patients with the clinical characteristics of Marinesco-Sjögren syndrome (MSS) revealed myopathic changes of two types; muscle fiber necrosis followed by regeneration and focal myofibrillar degeneration inducing autophagocytosis with rimmed vacuole formation. In two young patients, massive muscle fiber necrosis with phagocytic invasion was the predominant feature and autophagic phenomenon was minimal, resembling the findings in progressive muscular dystrophy. Myofibrillar degeneration with autophagic phenomenon was prominent in five adult patients. The coexistence of these two degenerative processes and the secondarily induced reactive changes of muscle fiber hypertrophy, interstitial fibrosis, occasional ragged-red fibers and type 1 fiber predominance, are responsible for the wide spectrum of muscle pathology in MSS. The dense double-membrane structure surrounding myonuclei, previously reported as being specific to MSS, was present in only one biopsy.

[Acute cerebellar ataxia and facial palsy after DPT immunization].

Since the initial report of Beyers & Moll (1948), numerous cases of seizures and encephalopathy after pertussis immunization or DPT immunization have been reported. However, acute cerebellar ataxia and/or facial palsy after DPT immunization is unusual, although there have been several reports from Japan. We report a 1-year-11-month-old girl with acute cerebellar ataxia and facial palsy after DPT immunization. On admission, she was alert. She was active and had a 6-day history of an ataxic gait and asymmetric facial movement which had begun 5 hours after DPT immunization. Neurological examination revealed an ataxic gait, horizontal nystagmus and right facial palsy. A CT scan showed low density on the right side of the pons with marked contrast enhancement. A MRI scan indicated the involvement of not only the right side of the pons, but also of the bilateral cerebellar peduncles. The child did well subsequently and was neurologically normal 20 days after the initial symptoms. To our knowledge, the present case is probably the first reported one of acute cerebellar ataxia after DPT immunization with CT and/or MRI correlation.

[A ten-year-old autistic girl with neuroleptic malignant syndrome caused by neuroleptic agents].

We reported a ten-year-old autistic girl who had developed neuroleptic malignant syndrome (NMS) caused by administration of neuroleptic agents, haloperidol and chlorpromazine, because of her behavioral disorders. She had fever (38.4 degrees C) and elevated CK (796 IU). Her extrapyramidal symptoms and autonomic disturbance improved gradually after discontinuation of these drugs. However, altered consciousness did not change for three months despite treatment with L-DOPA, bromocriptine, dantrolene Na, biperiden, diltiazeM HCL and diazepam. Administration of amantadine HCL dramatically cleared not only the persistent symptom but also extrapyramidal symptoms and autonomic disturbance. She recovered from NMS one month later. The study of this case indicated that these neuroleptic drugs could cause NMS also in children. Therefore, the use of them in children with behavioral problems should be carefully evaluated clinically. It was concluded that NMS in this case occurred due to a defective dopamine release from presynaptic vesicles because L-DOPA was not effective and amantadine HCL was effective against these symptoms.

Effects of drugs and fatty acids related to Reye syndrome on brain water content in rats.

Brain water content was measured by gas-chromatography in rats following intraperitoneal injection of drugs and fatty acids related to the etiology of Reye syndrome. A statistically significant increase in brain water content was observed following injection of 5% glucose solution, valproic acid, acetyl salicylic acid, calcium hopantenate, margosa oil, 4-pentenoic acid, linolenate and arachidonate. Seizures occurred in all animals given valproic acid, margosa oil and 4-pentenoic acid, and in 25% of those given 5% glucose solution + anti-diuretic hormone. The results of these studies may help in the selection of appropriate agents for experimental induction of acute encephalopathy and brain edema in animal models of Reye syndrome.

Fragile X syndrome in Japanese patients with infantile autism.

Forty-seven patients (39 boys and 8 girls) with infantile autism whose clinical symptoms had matched the diagnostic criteria of DSM III were studied cytogenetically for the occurrence of fragile X [fra(X)] syndrome. The existence of fra(X) chromosome in these patients was screened first by culturing peripheral blood lymphocytes in a medium in which folic acid was absent; the fra(X) chromosome then was confirmed by reculturing in another medium to which 5-fluoro-2'-deoxyuridine was added for the last 24 hours of culture. Fra(X) chromosome was found in 2 of 39 male patients, but in none of the female patients; the 2 patients are siblings. Thus, fra(X) syndrome occurs in 2.6% (1/38) in this study population of male autistic children. The frequencies of fra(X) expression in the older brother with mild mental retardation, in the more severely retarded younger brother, and in their mother were 3-5%, 17-20%, and 9-3%, respectively. Of the two methods used in the present study, the method employing 5-fluoro-2'-deoxyuridine tended to be more sensitive to fra(X) chromosome detection, especially for a suspected carrier.

Very long-chain fatty acids in neutral lipids and glycerophospholipids of adrenoleukodystrophy-cultured skin fibroblasts.

Three major lipid fractions, i.e., cholesterol ester, triacylglycerol and glycerophospholipids, were investigated cultured fibroblasts to clarify whether very long-chain fatty acids were accumulated or not. Abnormally accumulated very long-chain fatty acids were confirmed in all three lipid fractions. Our results support our previous report that there may be a generalized abnormal metabolism of very long-chain fatty acids in adrenoleukodystrophy.

Adrenoleukodystrophy: fatty acid analysis of total glycerophospholipids in erythrocyte membranes.

The saturated fatty acids released from the erythrocyte membranes of four patients with adrenoleukodystrophy (ALD) and 14 diseased controls were analyzed by high performance liquid chromatography. The ratios of C26:0 to other saturated fatty acids in ALD were higher than those of diseased controls, and neither false-positive nor false-negative samples were observed. These results suggest that a study of fatty acids of total glycerophospholipids in erythrocyte membranes by high performance liquid chromatography is a useful diagnostic method of ALD.

Subacute necrotizing encephalomyelopathy (Leigh disease): report of a case with Lennox-Gastaut syndrome.

More than 100 cases of Leigh disease have been reported. None have shown Lennox-Gastaut syndrome. We report here the first known case of Leigh disease with Lennox-Gastaut syndrome, and discuss the clinical course in detail. A 3 1/2-year-old-boy was admitted with multiple symptoms and despite various therapies he died at age of ten years. Serial CT showed marked cerebral atrophy, ventricular dilatation, and an arachnoid cyst in the posterior fossa. Histopathological findings on autopsy of the brain and spinal cord were consistent with those characteristic of Leigh disease. In the chronic course of Leigh disease, the cerebral cortex was also involved and the Lennox-Gastaut syndrome might be complicated.

Cortical blindness in acute carbon monoxide poisoning.

A 3-year-old boy had persistent cortical blindness following acute carbon monoxide poisoning. He was believed to have suffered anoxic brain damage due to incomplete combustion of the briquette-type solid fuel. Computed tomographic (CT) scan of the brain and visual evoked potentials (VEP) in the early stage were normal. However, on the 20th hospital day CT scan showed leukomalacia and VEP showed an absence of N1-, and P1-waves which was well correlated with the clinical feature at that time.

A childhood form of Huntington's disease associated with marked pyramidal signs.

The case of a childhood form of Huntington's disease in a 9-year-old boy is reported. The patient had complaints of generalized convulsions from the age of 4, and progressive motor disabilities and mental deterioration from the age of 6. His father had suffered from Huntington's disease for 10 years, and his paternal uncle and aunt, who died at the age of 52, were diagnosed as having this disease. Neurological examination revealed severe mental retardation and marked pyramidal signs. He has no signs or symptoms of involuntary movement, muscular rigidity or ataxia. Axial computed tomography showed marked dilatation of the frontal horns and suggested caudate atrophy. This case is atypical of a childhood form of Huntington's disease because of the lack of muscular rigidity and choreiform movement. But computed tomographic findings correspond to that typically seen in cases of adult Huntington's disease.