Hunter syndrome presenting as macrocephaly and hydrocephalus.
A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D006025:Glycosaminoglycans / Q000652:urine; D006257:Head / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000175:diagnosis*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome
D006025:Glycosaminoglycans