Abstract

Mucolipidosis type II and III are autosomal recessive lysosomal storage disorders caused by the deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. In this case report we present a preterm born infant with significant developmental delay, secundum atrial septal defect, central hypothyroidism, inguinal hernia, hearing loss and chronic bronchopulmonery disease. She was evaluated for metabolic disorders because of her phsycomotor retardation and diagnosed mucolipidosis type II. Mucolipidosis type II is a very rare metabolic disorder. The presenting symptoms are very much like mucopolisaccaridosis type I but it has an early onset and there is no mucopolysaccariduria. So we should think of mucolipidosis type II in a patient with symptoms like mucopolisaccaridosis type I when the age is younger.