title: Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.
abstract: Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India. Electronic address: skulkarni.shilpa@gmail.com.
authors.forename: Shilpa D
authors.initials: SD
authors.lastname: Kulkarni
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
authors.forename: Rafat
authors.initials: R
authors.lastname: Sayed
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
authors.forename: Meenal
authors.initials: M
authors.lastname: Garg
authors.affiliation: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
authors.forename: Varsha A
authors.initials: VA
authors.lastname: Patil
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D014059:Tongue / Q000473:pathology
keywords: Asymmetry; Charcot–Marie–Tooth 1A; Charcot–Marie–Tooth disease; Cranial nerve involvement; Hereditary motor and sensory neuropathy; PMP22 gene