基本情報
- 所属
- 自治医科大学 医学部小児科学講座 ／ 医学部小児科学講座 小児医学部門 教授
- 研究者番号
- 90426320
- J-GLOBAL ID
- 201401039803985369
- researchmap会員ID
- B000238601
- 外部リンク
経歴
10論文
354-
Journal of the Neurological Sciences 114(2) 205-208 1993年 査読有りTwo MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) patients with diabetes mellitus (DM), and their family members are described clinically and genetically. The probands have the following features in common normal early development, short stature, deterioration of intellectual ability, convulsions, cardiac conduction defect, sensorineural hearing loss, cortical blindness, and hemiparesis. Biochemical tests showed high levels of lactate and pyruvate in the blood and cerebrospinal fluid. Muscle biopsy showed ragged-red fibers. Molecular genetic analysis of both patients revealed that they had an A-to-G substitution at nucleotide position 3243 of the mitochondrial DNA in a heteroplasmic fashion. From these clinical and molecular genetic data they were diagnosed as having MELAS. In addition, fasting blood glucose levels were also high and they were diagnosed as having insulin-dependent DM. Some of the maternal family members in both cases also had insulin-dependent DM and several clinical symptoms of MELAS. DM and clinical features of MELAS were transmitted exclusively in the maternal line. In these cases, DM and MELAS might be a clinical manifestation of the same metabolic defect. © 1993.
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Brain and Development 15(2) 125-127 1993年 査読有りA 10-month-old male with glutaric aciduria type-1 (GA-1) is reported. This patient showed frequent partial motor seizures, irritability, and involuntary movements, including oral dyskinesia at the age of 3 months. On admission, magnetic resonance (MR) scanning revealed a chronic subdural hematoma and widening of the bilateral insular cisterns. Urine organic acid analysis showed marked excretion of glutaric acid, 3-hydroxy glutaric acid and glutaconic acid, suggesting GA-1. Removal of the subdural hematoma was effective for the irritability but not for the extrapyramidal signs. This is the first report of a subdural hematoma as an initial symptom in a patient with GA-1. However, the complication of subdural fluid collection in GA-1 is not rare. To our knowledge, of 29 patients with GA-1 who underwent computed tomographic or MR scans, 5 had subdural fluid collection. Disproportional hypoplasia of the temporal lobes may be a suggestive etiology of subdural fluid collection/chronic subdural hematoma. © 1993.
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Brain and Nerve 44(3) 259-264 1992年 査読有り
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No To Hattatsu 24(6) 591-594 1992年 査読有りSerial imaging studies in a 16-year-old female affected by Fahr's disease accompanied with persistent vitreous artery were performed. She suffered from chronic subdural hematoma, which was removed at the age of 5 months. Brain CT scan performed at the age of 4 revealed calcified lesions at the corticomedullary junctions in the frontal lobes of cerebrum. Yearly repeated CT scans revealed an increasing number of the calcified lesions, which were observed at the cortico-medullary junction of cerebrum, globus pallidus, thalami and dentate nuclei of the cerebellum. Calcifications have not increased in the last 4 years. Laboratory examinations of serum and urine failed to prove any abnormalities. She also had bilateral persistent vitreous arteries. The combination of these rare two diseases may have occurred coincidentaly, but there is a possibility that the capillary dysfunction played a role in the pathogenesis of two diseases. © 1992, The Japanese Society of Child Neurology. All rights reserved.
MISC
142-
Epileptic disorders : international epilepsy journal with videotape 22(2) 214-218 2020年4月16日Ring chromosome 20 syndrome is an epileptic and neurodevelopmental encephalopathy that occurs in children, characterised by a triad of refractory frontal lobe seizures, recurrent non-convulsive status epilepticus and frontal lobe-dominant paroxysmal discharges. However, details of other clinical features associated with ring chromosome 20 syndrome remain unknown. Here, we report two patients with ring chromosome 20 syndrome who had praxis-induced reflex seizures. Case 1 was an 11-year-old girl who presented with seizures triggered by specific activities such as mental and written calculations, writing, decision-making, recall, sudden changes in routine or ambient temperature and bathing. During calculations, left frontal lobe-dominant, 3-Hz slow-wave bursts were observed on EEG. Lacosamide effectively suppressed her tonic seizures. Case 2 was a six-year-old boy who presented with seizures triggered by specific activities such as calculations, recall and bathing. During calculations, frontal lobe-dominant, 3-Hz spike and slow-wave bursts were observed on EEG. Although his epilepsy was refractory, gabapentin reduced the frequency of focal seizures. In both cases, the hyperexcitability in the frontal lobe may have spread to the motor cortex and precipitated praxis-induced seizures. Therefore, in addition to the known characteristic triad, praxis-induced reflex seizures may also be a feature of ring chromosome 20 syndrome.
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