Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0019209 (
hepatomegaly
)
5,798
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe two boys, presenting by 1 year of age, with developmental delay from birth, mildly coarse facial features, and
hepatomegaly
. These clinical features were most suggestive of a mucopolysaccharidosis, particularly MPS II. Biochemical studies, including sulfate incorporation in fibroblasts and lysosomal enzyme analyses in fibroblasts, leukocytes, and serum, showed abnormalities in both sulfatide and mucopolysaccharide metabolism and led to the diagnosis of multiple sulfatase deficiency. With time, both patients developed an ichthyotic rash and profound intellectual deterioration. We conclude that findings in the first year of life in some patients with
MSD
may closely resemble those in patients with a MPS disorder rather than the late infantile form of metachromatic leukodystrophy, as is classically described. Thus,
MSD
should be considered in the young patient suspected of having a MPS disorder.
...
PMID:Early manifestations of multiple sulfatase deficiency. 614 38
