Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts.
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.
Atiq
Mehnaz
M
Department of Pediatrics, The Aga Khan University Hospital, Karachi, Pakistan. mehnaz.atiq@aku.edu
Iqbal
S
S
Ibrahim
S
S
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