title: Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C.
abstract: The most common mitochondrial DNA (mtDNA) mutations giving rise to Leigh syndrome reside in the MTATP6 gene. We report a rare mutation, m. 9185 T>C that gives rise to a progressive, but episodic pattern of neurological impairment with partial recovery. Disease progression corresponded to febrile viral illness and nuclear magnetic resonance imaging (MRI) changes. The patient displayed nearly 100% homoplasmy, while his asymptomatic mother was 30%. Phenotypically, exacerbations of muscle weakness with endurance intolerance, dysarthric speech, ataxia, and eyelid ptosis accompanied febrile viral illness. This case demonstrates an episodic pattern of febrile illness-induced disease exacerbation with corresponding MRI changes.
authors.affiliation: Division of Pediatric Neurology, Seattle Children's Hospital and University of Washington, Seattle, WA 98105, USA. russ.saneto@seattlechildrens.org
authors.forename: Russell P
authors.initials: RP
authors.lastname: Saneto
authors.forename: Keshav K
authors.initials: KK
authors.lastname: Singh
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D018450:Disease Progression; D005334:Fever / Q000150:complications*; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D017354:Point Mutation; D011859:Radiography; D014777:Virus Diseases / Q000150:complications*
chemical_list: C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases