Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia.
Staley
Kevin J
KJ
Department of Pediatric Neurology, Massachusetts General Hospital, USA.
Sims
Katherine B
KB
Grant
P Ellen
PE
Hedley-Whyte
E Tessa
ET
D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis; D002555:Cerebrospinal Fluid / Q000737:chemistry / Q000276:immunology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006319:Hearing Loss, Sensorineural / Q000151:congenital*; D006801:Humans; D007035:Hypothermia / Q000209:etiology; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages; D007888:Leigh Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D053609:Lethargy / Q000209:etiology; D007969:Leukomalacia, Periventricular; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis*; D009154:Mutation