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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| Published in | Journal of pediatric hematology/oncology Vol. 40; no. 1; p. 74 |
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| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
United States
01.01.2018
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| Subjects | |
| Online Access | Get more information |
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Proytcheva, Maria Lukefahr, Ashley L |
| Author_xml | – sequence: 1 givenname: Ashley L surname: Lukefahr fullname: Lukefahr, Ashley L organization: Department of Pathology, The University of Arizona College of Medicine, Tucson/Banner University Medical Center-Tucson, Tucson, AZ – sequence: 2 givenname: Maria surname: Proytcheva fullname: Proytcheva, Maria |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29200150$$D View this record in MEDLINE/PubMed |
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| Snippet | Hurler syndrome is an autosomal recessive mucopolysaccharidosis characterized by intralysosomal accumulation of glycosaminoglycan fragments, with cellular... |
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| SubjectTerms | 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 |
| Title | Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome |
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