Alder-Reilly Anomaly in Hurler's Syndrome in a Neonate: A Rare Case Report.

Abstract

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.

• Authors: Pallavi Bhuyan, Bipsa Singh, Sukumar Chakrabarty, Niranjan Mohanty, Mukesh Agarwal, Sanghamitra Satpathy
• Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion (Indian J Hematol Blood Transfus) Vol. 29 Issue 3 Pg. 184-6 (Sep 2013) ISSN: 0971-4502 [Print] India
• PMID: 24426371 (Publication Type: Case Reports)