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 origi...

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Veröffentlicht in:	Journal of medical genetics 1977-12, Vol.14 (6), p.445-447
Hauptverfasser:	Yatziv, S, Epstein, C J
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Diagnosis, Differential Glycosaminoglycans - urine Head - abnormalities Humans Hydrocephalus Hydrocephalus - complications Hydrocephalus - diagnosis Macrocephaly Male Mucopolysaccharidosis II - complications Mucopolysaccharidosis II - diagnosis Research Article Syndrome
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.14.6.445