title: Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts.
abstract: Hypertrophic cardiomyopathy is an uncommon childhood cardiac disease and can be primary or secondary. Several systemic diseases are known to be associated with this entity. Senger's disease is a mitochondrial disorder causing congenital cataracts lactic acidosis and skeletal and cardiac myopathy. Diagnosis should be kept in mind when routine neonatal eye screening reveals absent red reflex. The authors report a case of Sengers disease and discuss the underlying pathogenetic mechanisms.
authors.affiliation: Department of Pediatrics, The Aga Khan University Hospital, Karachi, Pakistan. mehnaz.atiq@aku.edu
authors.forename: Mehnaz
authors.initials: M
authors.lastname: Atiq
authors.forename: S
authors.initials: S
authors.lastname: Iqbal
authors.forename: S
authors.initials: S
authors.lastname: Ibrahim
mesh_terms: D001774:Blood Chemical Analysis; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications* / Q000175:diagnosis*; D002386:Cataract / Q000150:complications* / Q000151:congenital*; D004452:Echocardiography; D004562:Electrocardiography; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis*; D018570:Risk Assessment; D012720:Severity of Illness Index; D013577:Syndrome