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.