Mucolipidosis II (I-Cell Disease)

Abstract

two-year-old girl presented with abnormal facies and delayed development since birth. As Health, Christian Medical A she hailed from an orphanage, historical details regarding her birth and family were not College, Vellore, India known. She had failure to thrive, with her weight being static for the preceding one year. Her developmental milestones had been grossly delayed. She had had two episodes of lower respiratory Correspondence: tract infection and one episode of diarrhoea requiring hospitalisation and administration of intraRaghupathy P.venous antibiotics.