Kimitoshi Hirayanagi

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Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disorder mainly affecting the development of the face, eyes, dentition, limbs, hair and heart. GJA1 (the gap junction protein α-1) has been determined to be a causative gene of ODDD, mapped to chromosome 6q22-24 identified as the connexin 43 gene (Cx43). We found a novel GJA1 mutation(More)
A 24-year-old Japanese woman developed anterocollis, weakness of the proximal arms, and subsequent cognitive impairment. A neurological examination revealed amyotrophic lateral sclerosis (ALS) without a family history. Systemic muscle atrophy progressed rapidly. Cerebral MRI clearly exhibited high signal intensities along the bilateral pyramidal tracts. An(More)
We report four adult cases of ceftriaxone (CTRX)-induced pseudolithiasis and nephrolithiasis. With the exception of case 1, none of our cases showed abdominal symptoms. Our patients, who had central nervous system (CNS) infections, had been treated with CTRX (4 g/day) for 35-69 days. CTRX-induced pseudolithiasis and nephrolithiasis can appear depending on(More)
A middle-aged male suffering from encephalopathy with cerebral amyloid angiopathy (CAA) with amyloid beta (Aβ) presented with initial symptoms of transient consciousness disturbance and left visual field photophobia. Lesions with aberrantly high signal on T2-weighted magnetic resonance imaging (MRI) of the brain appeared in the right temporal lobe posterior(More)
A 44-year-old woman with multiple sclerosis (MS) receiving interferon (IFN)-beta-1a treatment was admitted to a local hospital for severe icterus and liver injury. She was transferred to our university hospital because fulminant hepatitis (FH) was suspected. She was diagnosed with acute-type FH based on hepatic coma, severe liver injury and liver failure,(More)
A 56-year-old man suffered from diffuse large B-cell lymphoma (DLBCL) originated from the stomach. He received R-CHOP therapy, and had a complete remission. However, at age 57, he experienced left shoulder pain and weakness of left arm, and his muscle weakness and sensory disturbance subacutely progressed to other limbs. Cervical and lumbosacral MRI showed(More)
Bilateral striatal necrosis (BSN) has many causes and is characterized by unique clinical and neuroradiological features. Herein, we report a clinical and genetic analysis of three BSN cases from two independent Japanese families harboring a mitochondrial DNA (mtDNA) 14459G>A mutation located in a coding region of the NADH dehydrogenase subunit 6 gene. In(More)
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