title: Acute disseminated encephalomyelitis in a female with hereditary neuropathy with susceptibility to pressure palsy.
abstract: A 7-year-old female presented with fever, urinary incontinence, mental regression, gait disturbance, and lethargy after diarrhea. Magnetic resonance imaging revealed multifocal T(2)-weighted hypersignal lesions supportive of acute disseminated encephalomyelitis. Her mother had been diagnosed with hereditary neuropathy with susceptibility to pressure palsy. The girl was also determined to have hereditary neuropathy with liability to pressure palsy, with a 1.5-Mb deletion in chromosome 17p11.2 encompassing the gene for peripheral myelin protein 22 detected by fluorescent in situ hybridization. Hereditary peripheral neuropathies may be a factor in triggering the autoimmune demyelinating disorder of the central nervous system.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Muneuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Tokunaga
authors.forename: R
authors.initials: R
authors.lastname: Kira
authors.forename: K
authors.initials: K
authors.lastname: Gondo
authors.forename: T
authors.initials: T
authors.lastname: Hara
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics*; D002648:Child; D002886:Chromosomes, Human, Pair 17; D004673:Encephalomyelitis, Acute Disseminated / Q000150:complications* / Q000175:diagnosis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008279:Magnetic Resonance Imaging; D009185:Myelin Proteins / Q000235:genetics
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human