Elsevier

Brain and Development

Volume 23, Issue 4, July 2001, Pages 258-260
Brain and Development

Case report
Inflammatory pathological changes in a 2-year-old boy with Charcot–Marie–Tooth disease

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Abstract

We report histopathological findings in a 2-year-old boy with Charcot–Marie–Tooth (CMT) 1A, which had some similarities to those of chronic inflammatory demyelinating polyneuropathy. These findings are unusual in adult CMT patients but are reported in some patients with corticosteroid-responsive hereditary motor and sensory neuropathy (HMSN) that are characterized by rapid worsening of symptoms. We administered betamethasone based on the inflammatory pathological features but no improvement was seen. Active demyelination is also reported as an early morphological feature in HMSN. It is probable that edema, active demyelination and a few onion bulb formations, which were recognized in this patient, are characteristic early histological changes of HMSN rather than those of corticosteroid-responsive HMSN.

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.

Section snippets

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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