Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome

Hurler syndrome is an autosomal recessive mucopolysaccharidosis characterized by intralysosomal accumulation of glycosaminoglycan fragments, with cellular accumulation of distended lysosomes resulting in interference with normal cell function. One of the peripheral blood features of mucopolysacchari...

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Bibliographic Details
Published inJournal of pediatric hematology/oncology Vol. 40; no. 1; p. 74
Main Authors Lukefahr, Ashley L, Proytcheva, Maria
Format Journal Article
LanguageEnglish
Published United States 01.01.2018
Subjects
Cerebrospinal Fluid - cytology
Child, Preschool
Cytoplasmic Granules - pathology
Fatal Outcome
Hematopoietic Stem Cell Transplantation
Humans
Leukocytes - pathology
Leukocytes - ultrastructure
Male
Mucopolysaccharidosis I - complications
Mucopolysaccharidosis I - diagnosis
Sepsis
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Summary:Hurler syndrome is an autosomal recessive mucopolysaccharidosis characterized by intralysosomal accumulation of glycosaminoglycan fragments, with cellular accumulation of distended lysosomes resulting in interference with normal cell function. One of the peripheral blood features of mucopolysaccharidoses is the presence of numerous, dark lilac granules within lymphocytes, monocytes, and neutrophils, also known at Alder-Reilly anomaly. Here we describe intracytoplasmic granules with haloes in mononuclear cells present in the cerebrospinal fluid of a 2-year-old boy with the diagnosis of Hurler syndrome, undergoing pretransplant evaluation for an unrelated donor cord blood stem cell transplant.
ISSN:1536-3678
DOI:10.1097/MPH.0000000000001041