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Pivot Concepts:
Gene/Protein
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Target Concepts:
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Query: UMLS:C0019214 (
hepatosplenomegaly
)
4,408
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 22-days-old male newborn baby presented with persistence of neonatal jaundice since birth. On clinical examination he had coarse facial features, a prominent forehead, enlarged tongue, icterus,
hepatosplenomegaly
, skeletal deformities and bilateral inguinal hernia. On investigation the peripheral smear revealed
Alder-Reilly anomaly
in the neutrophils suggesting mucopolysaccharidosis. Mucopolysaccharide excretion spot test of the urine was positive; and an assay for glycosaminoglycans in the urine was also high, which confirmed the clinical diagnosis of Hurler's syndrome. We present this rare case to highlight the association of
Alder-Reilly anomaly
and bilateral inguinal hernia in Hurler's syndrome even in neonates.
...
PMID:Alder-Reilly Anomaly in Hurler's Syndrome in a Neonate: A Rare Case Report. 2442 71
