Hurler syndrome (A ganglioside storage disorder)

This due to beta-galactosidase deficiency and abnormal accumulation of GM1 ganglioside in neurons and in hepatic, splenic and other histiocytes and in renal glomerular epithelium . The symptoms appear shortly after birth: they include retarded psychomotor development, failure to thrive, startle reaction to sounds, feeding difficulty, hepatosplenomegaly, Hurler (gargoyle-like) facies (coarse facial features, macrocephaly, broad nose, frontal bossing, long philtrum, prominent maxilla, and macroglossia), bone defects (mainly dysostosis multiplex and long bone and vertebral anomalies: anterior beaking).