INFANTILE GM1 GANGLIOSIDOSIS WITH CLASSICAL RADIOLOGICAL FINDINGS- a case report

Dr. Rajsree Purna Pawar; Dr. Sujata Patnaik

Volume : IX, Issue : I, January - 2020

INFANTILE GM1 GANGLIOSIDOSIS WITH CLASSICAL RADIOLOGICAL FINDINGS- a case report

Dr. Rajsree Purna Pawar, Dr. Sujata Patnaik

Abstract :

Infantile GM1 Gangliosidosis is a rare inherited metabolic disorder with an incidence of 1 in 1–2 lakh live births presenting with rapidly progressive neurological and systemic illness associated with skeletal abnormalities, facial dysmorphism , visceral organomegaly, ocular and cutaneous manifestations. We report a genetically proven case of an infant with skeletal, neurological, occular, visceral, cutaneous abnormalities