Monozygotic Twins with Suspected Hereditary Sensory and Autonomic Neuropathy(HSAN) Type V.
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概要
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We report a pair of 1-year-5-month-old female monozygotic twins with generalized loss of pain sensation, but without impairment of other sensory modalities and the diaphoretic function. Routine electrophysiological investigations revealed no abnormalities. Morphometric analysis of biopsied sural nerve showed that the number of small myelinated fibers was reduced and that of unmyelinated fibers was normal or mildly reduced. On the basis of these findings, we suspected a diagnosis of a rare disorder, HSAN type V, which has not previously been reported in Japan.
- 一般社団法人 日本小児神経学会の論文
一般社団法人 日本小児神経学会 | 論文
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