title: Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis.
abstract: Charcot-Marie-Tooth disease type 1, also known as hereditary motor sensory neuropathy type 1, is an uncommon autosomal dominant disease that causes destruction of peripheral nerves with a varied clinical course, but often leads to muscle weakness. If the peroneal muscle is involved, the patient may develop a characteristic slapping gait. The dose-limiting side effect of the chemotherapeutic agent vincristine is usually its neurotoxicity. We report the case of a 5-year-old patient with leukemia who developed an acute polyneuropathy after treatment with vincristine. Charcot-Marie-Tooth disease type 1 was diagnosed in the patient and, subsequently, in his mother only after vincristine toxicity was observed.
authors.affiliation: Brigham and Women's Hospital/Harvard Medical School, Center for Neurologic Diseases, Boston, MA 02115, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Olek
authors.forename: B
authors.initials: B
authors.lastname: Bordeaux
authors.forename: R T
authors.initials: RT
authors.lastname: Leshner
mesh_terms: D000328:Adult; D000972:Antineoplastic Agents, Phytogenic / Q000009:adverse effects* / Q000627:therapeutic use; D002051:Burkitt Lymphoma / Q000188:drug therapy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000139:chemically induced*; D014750:Vincristine / Q000009:adverse effects* / Q000627:therapeutic use
chemical_list: D000972:Antineoplastic Agents, Phytogenic; D014750:Vincristine