Kei Komiya

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The muscle fiber diameter and distribution were studied in serial muscle biopsy specimens taken at the ages of 21 months and 8 years in a girl with congenital fiber type disproportion. The patient was floppy from birth and showed delayed motor development. Progressive respiratory failure developed from the age of 8, which required artificial respiration(More)
BACKGROUND Insulin resistance at diagnosis was investigated in Japanese children with type 2 diabetes mellitus (T2DM). METHODS A total of 160 children with T2DM were divided into groups on the basis of percent overweight at time of diagnosis: group A (n = 28), <20%; group B (n = 55), 20-39%; group C (n = 37), 40-59%; group D (n = 40), ≥ 60%. Indicators of(More)
A 6-year-old girl presented with a myopathy--she was floppy since birth and developed progressive respiratory failure for which she required mechanical ventilation at age 6 months. Biopsy showed cytoplasmic bodies in about 15% of both type 1 and 2 muscle fibers. Of the 18 cases of cytoplasmic body myopathy (CBM) reported in the literature, 3 had symptoms at(More)
We presented a 3-year-old boy, a product of consanguineous parents, with periodic apnea during waking and sleep states, severe psychomotor retardation and hypotonia. According to polysomnographical recordings, he exhibited frequent central apneas which decreased in frequency and regularity in the stage REM. He showed abnormal background EEG,(More)
Adrenoleukodystrophy (ALD) is now considered to be an X-linked recessive peroxisomal disorder. We report the case of a patient with ALD associated with a left parietal arteriovenous malformation (AVM) who deteriorated progressively six months after recovery from a hemorrhage of the AVM. Serial CT scans and MR imagings showed progressive demyelination(More)
We report here a case of juvenile metachromatic leukodystrophy. The patient is an 8-year-old boy with motor and mental deterioration, which began at about age 3. He has also suffered from astatic seizures since age 8. Arylsulfatase A activity in the patient was markedly decreased in peripheral leukocytes, cultured fibroblasts and urine. Sulfatide was(More)
A case of Hopkins syndrome is presented. The patient was a 4-year-old boy who developed weakness of the right leg 2-3 days after a mild asthmatic attack. Needle electromyography revealed fasciculation discharges in the right gastrocnemius muscle. A histological study of the biopsied right quadriceps femoris muscle revealed scattered atrophic fibers,(More)
A typical case with progressive facial hemiatrophy was treated with a new therapeutic trial, stellate ganglion block. The present case, a Japanese girl, suffered from progressive atrophy involving the soft tissue of the left buccal region, with onset at the age of 6 following a minor local trauma. She visited our hospital at the age of 9, and as soon as the(More)
Prognosis of 175 psychoneurologically normal children with the onset of epilepsy after 18 months of age were studied. The remission rate of partial epilepsy (81 of 107 cases, 76%) was higher than that of generalized epilepsy (34 of 56 cases, 61%). Prognoses for patients with sleep epilepsy (52 of 62 cases, 84%) were better than those for patients with(More)