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The anticonvulsant effect of ketogenic diet was evaluated by using various expermental seizure models, and the concentrations of brain amino acids and monoamines in young mice under ketogenic diet were investigated by high performance liquid chromatography.
Four-week-old male mice (ddY strain) were fed on MCT powdered milk admixed with cellulose powder ad libitum. Consumption of this MCT powdered milk produced about eight to twenty fold increases in the serum 3-hydroxybutyrate concentrations.
No significant anticonvulsant effects of ketogenic diet (MCT powdered milk) were observed against maximal electroshock seizure (20 mA×0.2 sec), pentetrazol (PTZ)-induced seizure (75 mg/kg), semicarbazide- induced seizure (100 mg/kg) or hydration electroshock seizure threshold (10 mA×0.2 sec) tests. However, a significant resistance was seen against the convulsion induced by the daily administration of subconvulsive dose of PTZ (45 mg/kg), which was a new experimental seizure model.
Following daily administration of subconvulsive dose of PTZ i. p., mice with no seizure behavior developed minimal full seizures or clonic convulsions on the 4th day and finally some of them developed generalized tonic convulsions or death. Seven-week-old adult mice exhibited less protection against this seizure model than 4-week-old mice on ketogenic diet. Clonic convulsion induced by this new seizure model, the daily administration of subconvulsive dose of PTZ (45 mg/kg), was more intensive than that induced by a single injection of PTZ (75 mg/kg), when assessed by phenobarbital, phenytoin and sodium valproate. These results suggest that this new experimental seizure model is useful to assess the anticonvulsant properties of ketogenic diet.
The contents of taurine, aspartic acid, valine, cystathionine, tyrosine, lysine and arginine were significantly low, and glutamine, alanine and cystine were significantly high in the brains of animals fed on ketogenic diet. No influence on the contents of GABA, glycine or glutamic acid by ketogenic diet was seen. A significant increase in brain noradrenaline content was observed with no increase in dopamine, serotonin or histamine in animals under ketogenic diet.

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We described a case of multiple sulfatase deficiency with fiber type disproportion. A 8-year-old girl had slowly motor and mental deterioration since the age of 17 months. She had main clinical features characterized by contractures in all extremities, gargoyle face, ichthyosis, retinitis pigmentosa, and enlarged liver. Laboratory examinations showed elevated CSF protein, and delayed nerve conduction velocity. Radiologic bone survey disclosed deformities similar to those of mucopolysaccharidosis. The activities of arylsulfatase A, B, C were markedly reduced in cultured in skin fibroblastosis. The findings of biopsied sural nerve showed metachromatic granules in Schwann cell cytoplasma and segmental demyelination without onion-bulb formations. Electron microscopy showed tuff-stone bodies. Those findings coincided with those of infantile form of metachromatic leukodystrophy. Muscle biopsy showed that type I fibers were predominant and the diameter of type I fibers was relatively smaller than that of type II fibers without other obvious histological findings. Those findings coincided with the histopathology of congenital fiber type disproportion.
The findings of fiber type disproportion is observed in various conditions such as experimental tenotomy and joint fixation. Our case had bilateral fixed knee joints. This condition might introduce into fiber type disproportion. However, demyelination of peripheral nerves in multiple sulfatase deficiency might be a factor associated with fiber type disproportion. We suggest that the pathogenesis of fiber type disproportion in our case with multiple sulfatase deficiency is associated with various complex factors.

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A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al.
A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day.
We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease.

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A 7-year-old girl with a possible diagnosis of acute autonomic neuropathy was presented. She was referred to our hospital having history of abdominal pain associated with mucous and bloody stool, headache, eye pain, and high fever of 5 days' duration. On examination, she was conscious but looked unwell. The skin was dry and tear secretion was not found even when she cried. The abdomen was distended and no bowel sounds were heard. The pupils were large and unreactive to light and accommodation. However, brisk constriction took place in response to 2.5% methacholine chloride. Extraocular muscles were intact. Deep tendon reflexes were absent and general muscle weakness was noticed. A plain abdominal X-ray revealed air-fluid levels. Serum sodium was 118 mEq/l. Serum and urinary osmotic pressures were 263 and 476 mOsm/l, respectively. Urinary porphobilinogen was normal. Lumber puncture yielded colorless fluid which showed albuminocytological dissociation (protein 105 mg/dl, cell count 1/3). Electroencephalogram and cranial computed tomography were normal. A few weeks after the onset, she began to vomit after eating. A balium swallow showed achalasia of the cardia, and the tube feeding was begun.
She was treated by betamethasone. Thereafter she gradually improved. Seven months after the onset, deep tendon reflexes were almost recovered. The pupils were smaller, but remained nonreactive to light and accommodation. She had no vomitting and oral feeding was possible. Now she can walk unaided.
The clinical features of this patient are represented by parasympathetic nerve involvements, such as loss of pupillary reflexes to light and accommodation, decreased secretion of tear and sweat, and insufficient bowel movements with achalasia of the cardia. These suggest a diagnosis of autonomic neuropathy as reported by Thomashefsky et al. and Young et al. But a type of Guillain-Barre syndrome could not be ruled out. The etiology of this neuropathy is to be discussed, but might be explained on the basis of an immune mechanism.

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Surgical experience of two cases of non-traumatic intracranial hemorrhage in infancy with hemophilia A. are reported. Case 1, a 10-month-old male, known to have severe hemophilia A developed a subdural hematoma. Burr hole evacuation of the hematoma was performed quite safely after administration of the factor VIII concentrate. Case 2, a 4-month-old male, with mild hemophilia A was complicated with intracerebral hematoma. He had neither the family history of bleeding disorders nor the prolongation of whole blood clotting time and the correct diagnosis was not established at the first admission. Though the angiography and craniotomy were done without any difficuties, re-bleeding ocurred at the same site thirteen days after the first operation.
Computed tomography scans was very useful for neurosurgical care of the hemophiliac patients as a non-invasive and atraumatic method of examination.

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The childhood dermatomyositis is much less frequently seen than in the adult, and infantile form is more rare. It differs in many respects from the adult form of the disease. One of them is pathological features primarily involved in the small intramuscular blood vessels. This is a presentation of the infantile form exceptionally dystrophic dominant pattern in muscle biopsy.
The patient is a 1-year-l-month-old girl who had been in good health and development until 9 months of age, when mother noted dusky erythematous discoloration of face and limbs. They were getting worse to skin ulcerations which fairly responded to topical corticosteroid. Because of gradual weakness, regression of motor development, anorexia, low grade fever and relapsing skin lesions, she was admitted to the SLH.
Physical examinations revealed heliotrope eyelids, dusky erythematous or hyperpigmented skin with ulcers in the face, limbs and trunks. Muscle weakness is generalized, more involved in the proximal muscles so that she could not crawl and sit up alone. Lab shows; ESR 25 mm/hr, CRP-negative, GOT 118 u, GPT 36 u, LDH 1, 270 u, ALD 19 u, CPK 1, 104 u, Muscle biopsy shows minimum infiltration of mononuclear cells to the intramuscular vessels and moderate to severe dystrophic changes of muscle fibers.
Three weeks treatment with 2 mg/kg of oral prednisolone is dramatic with rapid improvement of muscle weakness, muscle enzymes and skin manifestations. But skin manifestations are relapsing on tapering prednisolone.
Characteristic vasculitis in the muscle biopsy of childhood dermatomyositis is rather scarce in our case. Instead, dystrophic changes are main features. Whether these findings are due to immunological immaturations or different mechanisms is unknown, yet the possibility of the direct attack to muscle fiber itself or membrane should be in mind as a pathogenesis of the illness.

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The patient was a 1-year-10-month-old boy. His parents and his elder brother were healthy. Family history revealed no consanguinity nor neuromuscular disorders. The milestones of his early motor development including head control and sitting were normal. However, he could not walk until 1 year and 6 months of age, and was not active physically.
At 1 year and 10 months of age he passed watery stool several times and had high temperature up to 38.5°C. Next morning he suddenly developed a generalized clonic convulsion and became comatous. Eight hours later he was transferred to our hospital, but died just before arrival. Clinical features suggested Reye syndrome.
Autopsy revealed brain edema with uncal herniation, marked fatty degeneration of liver and kidney, and colitis. The diagnosis of Reye syndrome was confirmed pathologically.
Histochemical study of skeletal muscle revealed fatty droplets deposited predominantly in type 1 fibers. Chemical analysis of carnitine content showed a marked decrease in the muscle (17% of control) and a lower limit concentration in the liver. Carnitine palmitoyltransferase activity was normal in both tissues.
These results strongly suggested that carnitine deficiency played an etiologic role in the development of Reye syndrome in this case. But the possibility of the secondary change in the carnitine content could not be eliminated completely.

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[in Japanese]

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[in Japanese]

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