Hunter syndrome presenting as macrocephaly and hydrocephalus.
- 1 December 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (6) , 445-447
- https://doi.org/10.1136/jmg.14.6.445
Abstract
A 2 yr old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly had mild Hunter syndrome (mucopolysaccharidosis type II, 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.This publication has 5 references indexed in Scilit:
- The Effects of Hydrocephalus on Intelligence, Visual Perception and School AttainmentDevelopmental Medicine and Child Neurology, 1975
- Inherited Disorders of Lysosomal MetabolismAnnual Review of Biochemistry, 1975
- Communicating Hydrocephalus in Children with Genetic Inborn Errors of MetabolismPediatric Neurosurgery, 1975
- CORRECTIVE FACTORS FOR INBORN ERRORS OF MUCOPOLYSACCHARIDE METABOLISMAnnals of the New York Academy of Sciences, 1971