A case of congenital hypomyelination polyneuropathy.

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概要

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• A 10-year-old girl with congenital hypomyelination polyneuropathy was presented. Her development seemed to be normal around 7 months of age. Thereafter, motor developmental delay was gradually revealed. At the age of 2 years 9 months, she was admitted to another hospital and a possible diagnosis of Dejerine-Sottas disease was made. She could walk at the age of 4 1/2 years. At the age of 10 years 5 months, she was admitted to our hospital for more complete examination.<BR>Her intelligence was normal. She could walk, but showed a wide-based ataxic gait. Deep tendon reflexes were completely absent. There was no peripheral nerve hypertrophy. Motor nerve conduction velocity of the ulnar nerve was 2.2m/s and the velocity of the posterior tibial nerve was unmeasurable.<BR>Electron microscopic findings of the sural nerve biopsy confirmed the virtual absence of myelin sheaths. In some places, there was a thin myelin sheath. The "onion-bulbs" consisted of multiple layered basement membranes. Axons appeared to be normal. Therefore the muscle specimen taken at the age of 2 years 9 months was reexamined. The electron microscopic examination of the intramuscular nerve fiber showed the same findings as those in the sural nerve biopsy specimen described above.<BR>Our case is very important to know the unprogressive course of this disease, because two nerve specimen taken at different ages showed essentially same findings.

• 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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