Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.

Total: 2

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PMID (PMCID)
24908534	MALE
	Mucopolysaccharidosis type II with inguinal hernia.
	Rayamajhi A, Pokharel PJ, Chapagain R, Rayamajhi AK. J Nepal Health Res Counc. 2013;11(25):293-5.
	In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis multiplex on X-ray with unusual large congenital inguinal hernia.
146740	MALE
	Hunter syndrome presenting as macrocephaly and hydrocephalus.
	Yatziv S, Epstein CJ. J Med Genet. 1977;14(6):445-7.
	A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II).