ABSTRACT
A 1½-year-old female child presented with swelling in thoracolumbar region and delayed developmental milestones. The routine hemogram analysis on Sysmex XN 1000 showed flags of white blood cell (WBC) abnormal scattergram and lymphocytosis. The peripheral smear examination showed Alder-Reilly (AR) granules leading to a suspicion of underlying Mucopolysaccharidosis (MPS). Further clinical workup, radiographic studies, chemical test lead to the confirmatory diagnosis of MPS. A flag of abnormal WBC scattergram and AR anomaly are the hematological findings that can be seen in a case of MPS.
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.