Morphological and Biochemical Studies of a Case of Mucopolysaccharidosis Ii (Hunter's Syndrome)

Abstract

An autopsy case of a 19‐year‐old boy who had shown typical gargoyle features, strictly consistent with mucopolysaccharidosis type II (Hunter's syndrome) was reported. Histologically, cytoplasmic vacuolar change was found In hepatocytes, sinusoidal epithelium of spleen, follicular cells of thyroid, Sertoli cells of testis, chromophobe cell of pituitary and generalized fibroblast‐like cells including meninges, cardiac valve and periosteum. The vacuoles consisting of membrane‐bound structures with flocculus protein‐like material and occasional electron dense bodies on electron microscopy, were considered to be the site of mucopolysaccharide deposition by histochemical analysis. Deposition of lipid material consistent with so‐called membranous cytoplasmic body was observed in the neurons of central, peripheral and autonomic nervous system. Hepatosplenomegaly could be explained by cytoplasmic deposition, but the cause of cardiomegaly remained further to be studied. Biochemically hepatic mucopolysaccharide was identified as heparan sulfate, while in the kidney dermatan sulfate and heparan sulfate were detected. The correlation between morphology and biochemistry, and between deposition and degeneration was discussed.

Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1–2 years in children with Hurler or Hunter syndrome

“…This is particularly significant in that previous studies have shown progressive growth failure (i.e., decreasing height SDS over time) in children with Hurler and Hunter syndromes [3–5]. Finally, GH deficiency was common in our study population and we speculate related to HCT treatment and/or GAG deposition in the pituitary [23–25]. …”

Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)

“…It has been noted that despite this, testosterone levels are sufficient to allow pubertal progression (Ranke et al 2005) which is also what we have demonstrated. It has previously been noted that build up of GAGs can occur in the testes as well as other endocrine glands in untreated patients with mucopolysaccharidoses (Nagashima et al 1976;Oda et al 1988), however the early age of transplant in these patients (mean age of first transplant 1 year) would make this explanation less likely.…”

An Adult Case with Hunters Syndrome Presenting Prominent Hepatic Failure: Light and Electron Microscopic Features of the Liver

“…In many reported cases of MPS, hepatic fibrosis was histopathologically seen but was not overt (4)(5)(6). In a literature search of previous case reports of MPS II written in the English (7)(8)(9)(10) …”