title: Kearns-Sayre syndrome presenting as isolated growth failure.
abstract: Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emphasises that defects of energy metabolism can present as isolated growth failure.
authors: Undiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA.
authors: Conisha Mone
authors: CM
authors: Holloman
authors: Lynne A
authors: LA
authors: Wolfe
authors: William A
authors: WA
authors: Gahl
authors: Cornelius F
authors: CF
authors: Boerkoel
mesh_terms: D001763:Blepharoptosis / Q000209:etiology; D002648:Child; D003937:Diagnosis, Differential; D005221:Fatigue / Q000209:etiology; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology; D007625:Kearns-Sayre Syndrome / Q000150:complications / Q000175:diagnosis*; D015418:Optic Atrophies, Hereditary / Q000209:etiology; D012174:Retinitis Pigmentosa / Q000209:etiology