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.


Keywords


Infantile GM1 Gangliosidosis, facial dysmorphism.

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