Sandhoff disease (GM2 Gangliosidoses) in a premature patient with bronchopulmonary dysplasia.
We report a female premature infant with bronchopulmonary dysplasia and Sandhoff disease. The clue for diagnosis was the fundoscopy examination. We discuss this rare disease with unusual presentation of intrauterine growth retardation, premature delivery, and bronchopulmonary dysplasia.
Abdul-Wahab
Atiqa
A
Department of Pediatrics, Hamad Medical Corporation, PO Box 3050, Qatar. atiqa@qatar.net.qa
Bessisso
Mohammed S
MS
Elsaid
Mahmoud F
MF
D001997:Bronchopulmonary Dysplasia / Q000150:complications / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D011780:Qatar; D012497:Sandhoff Disease / Q000150:complications / Q000175:diagnosis*