Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease
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Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology
Published on: August 22, 2022
1Department of Pediatrics, Nagoya University School of Medicine, Nagoya, Japan. ynakai@ncnp.go.jp
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.
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