Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.
We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.
Marques
Wilson
W
Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, SP 14049-900, Brazil. wmjunior@fmrp.usp.br
Funayama
Carolina A R
CA
Secchin
Juliana B
JB
Lourenço
Charles M
CM
Gouvêa
Silmara P
SP
Marques
Vanessa D
VD
Bastos
Patricia G
PG
Barreira
Amilton A
AA
D000200:Action Potentials; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000503:physiopathology / Q000628:therapy; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002908:Chronic Disease; D004185:Disability Evaluation; D004334:Drug Administration Schedule; D005260:Female; D020440:Gene Duplication; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage; D056747:Immunomodulation; D018482:Muscle, Skeletal / Q000503:physiopathology; D009431:Neural Conduction; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000150:complications* / Q000503:physiopathology / Q000628:therapy; D011984:Sensory Receptor Cells; D016896:Treatment Outcome
D016756:Immunoglobulins, Intravenous