Sandhoff's Disease: A Case Report

Abstract

Sandhoff disease is a rare inherited disorder within the sphingolipidosis family, characterized by the accumulation of lipids in the nervous system due to a deficiency in hexosaminidase types A and B enzymes. This condition leads to progressive neurological disorders and eventual blindness, often resulting in fatality before the age of 4. We present the case of an infant who was admitted for psychomotor regression and generalized hypotonia, with the diagnosis of Sandhoff disease being supported by ophthalmological examination findings. Confirmation of the diagnosis was achieved through exome sequencing.