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

被引：1

作者：

Bhuyan, Pallavi ^{[1
]}

Singh, Bipsa ^{[2
]}

Chakrabarty, Sukumar ^{[3
]}

Mohanty, Niranjan ^{[2
]}

Agarwal, Mukesh ^{[2
]}

Satpathy, Sanghamitra ^{[4
]}

机构：

[1] SCB Med Coll, Dept Pathol, Cuttack 753007, Orissa, India

[2] SCB Med Coll, Dept Pediat, Cuttack 753007, Orissa, India

[3] ITER & SUM Hosp, Dept Pathol, Bhubaneswar, Orissa, India

[4] Hitech Med Coll, Dept Gynecol, Bhubaneswar, Orissa, India

来源：

INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION | 2013年 / 29卷 / 03期

关键词：

Alder-Reilly anomaly; Bilateral inguinal hernia; Mucopolysaccharidosis (MPS) type 1; Hurler's syndrome;

D O I：

10.1007/s12288-012-0178-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：184 / 186

页数：3