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.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Brain and DevelopmentAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Corticosteroid-responsive dominantly inherited neuropathy in childhood.Neurology. 1991; 41: 437-439
- Prednisone-responsive hereditary motor and sensory neuropathy.Mayo Clin Proc. 1982; 57: 239-246
- Response to immunosuppressive therapy in patients with hereditary motor and sensory neuropathy and associated dysimmune neuromuscular disorders.Eur Neurol. 1987; 27: 188-196
- Morphometrical and ultrastructural evaluation of the sural nerve in children with Charcot-Marie-Tooth: implications for pathogenesis and treatment.Ann Neurol. 1991; 30: 500
- Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy?.Acta Neuropathol. 1993; 8: 630-635
- Chronic inflammatory demyelinating polyneuropathy in childhood: ultrastructural features of peripheral nerve biopsies in four cases.Eur J Pediatr. 1990; 149: 654-658
- The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies.J Neurol Sci. 1997; 32: 91-122
- Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I.Acta Neuropathol. 1992; 84: 433-436
- Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).J Neurol Sci. 1992; 107: 145-154
- The hypertrophic forms of hereditary motor and sensory neuropathy.Brain. 1987; 110: 121-148
- The steroid treatment of hereditary motor and sensory neuropathy.Neuropediatrics. 1984; 15: 203-207
Article info
Publication history
Accepted:
February 26,
2001
Received in revised form:
February 26,
2001
Received:
November 1,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
