Pathologic quiz case: hepatosplenomegaly in an infant with hypotonia and coarse facial features. Gangliosidosis type 1.
Bu-Ghanim
Moueen
M
Department of Pathology, Mount Sinai Hospital, Mount Sinai School of Medicine, New York, NY, USA.
Sansaricq
Claude
C
Gordon
Ronald
R
Morotti
Raffaella A
RA
D005145:Face / Q000002:abnormalities* / Q000033:anatomy & histology*; D005260:Female; D016537:Gangliosidosis, GM1 / Q000175:diagnosis*; D006529:Hepatomegaly / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000175:diagnosis*; D013163:Splenomegaly