Eyeing the Spots and the Spot in the Eye

Abstract

A meticulous clinical examination is indispensable in the diagnosis of neurometabolic disorders. We describe an 11-month-old girl with the classical “Hurler phenotype” who was referred to us with a diagnosis of mucopolysaccharidosis. But on “eyeing” the extensive Mongolian spots on the back and the cherry red spot in the eye, GM1 gangliosidosis were suspected and confirmed by enzyme assay. Examination of the fundus and the presence of extensive Mongolian spots can provide valuable clues to the diagnosis of metabolic disorders.