Norihisa Koyama

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OBJECTIVE Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations. METHODS We screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients(More)
The incidence of late-onset circulatory dysfunction (LCD) of premature infants, which is characterized by sudden hypotension and oliguria, has recently increased in Japan. This condition suddenly occurs after several days of age without obvious causes in preterm infants with stable respiration and circulation. Intravenous steroids frequently improve the(More)
We report a case study of an 11-year-old Japanese boy with complex partial status epilepticus, a type of non-convulsive status epilepticus, concomitant with DOOR syndrome. To our knowledge, this is the first report of this type of epilepsy concomitant with DOOR syndrome. Magnetic resonance (MR) imaging showed diffuse atrophy of the cerebellar cortex. The(More)
We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male patient developed hydrops fetalis, which was diagnosed based on the generalized edema and pleural effusion and could perform no significant spontaneous movements. His eyes were open, without blinking, and the eyeballs were locked in(More)
A 6-year-old boy was referred for follow-up of a ven-tricular septal defect, which was first diagnosed when he was a neonate. Cardiac catheterization performed at 7 months of age revealed an aberrant left subclavian artery arising from the right aortic arch. Recurrent respiratory infection that caused stridor and/or wheezing occurred in early infanthood,(More)
Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed in the cytoplasm, intranuclear rods were(More)
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