Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II)

Abstract

A patient is described in whom the diagnosis of I-cell disease (mucolipidosis II) was established in early infancy. This patient developed the clinical symptoms and signs of craniosynostosis and hydrocephalus at 4 years of age. Radiological studies revealed premature closure of the metopic, coronal and sagittal sutures, and internal hydrocephalus secondary to obstruction of the cerebrospinal fluid pathway at the IV ventricle outlets. In view of the poor visual recovery in spite of surgical correction, early detection of neurological complications and their prompt managements are recommended.