Case reportInflammatory pathological changes in a 2-year-old boy with Charcot–Marie–Tooth disease
Introduction
Charcot–Marie–Tooth (CMT) disease is a genetically determined, slowly progressive disease of peripheral nerves. Pathologic findings in CMT disease include segmental demyelination and remyelination, onion bulbs and no overt inflammatory signs. However, several nerve biopsy findings have been reported, which are suggestive of coexistent inflammatory components [1], [2], [3], [4], [5], [6], [7], [8]. They may be related to responsiveness to corticosteroids in some patients [1], [2], [3], [4]. We report the histopathological findings, which had some similarities to those of chronic inflammatory demyelinating polyneuropathy (CIDP), and outcome of corticosteroid treatment in a 2-year-old boy with CMT1A.
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Case report
A 2-year-old boy was referred to our hospital for evaluation of leg weakness and absent deep tendon reflexes. He was the first boy born to unrelated Japanese parents. He had neither perinatal problems nor apparent congenital abnormalities. No relatives were known to have neuropathic symptoms except that his father needed support to walk until 2 years of age. His father had pes cavus deformity with absent deep tendon reflexes. His nerve conduction velocities were markedly slow (Table 1).
His
Discussion
CMT1A is also known as hereditary motor and sensory neuropathy (HMSN) type 1A. Molecular genetics has established that CMT1A is related to a duplication of the PMP-22 gene. Gene analysis is currently an important diagnostic tool but nerve biopsy has been considered useful in distinguishing CMT1A from CIDP. The chief histologic findings in CMT1A are segmental demyelination and remyelination, onion bulbs and no overt inflammatory signs, whereas those in CIDP are nerve edema, endoneurial
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