Literature DB >> 29200150

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

Ashley L Lukefahr1, Maria Proytcheva.   

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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Year:  2018        PMID: 29200150     DOI: 10.1097/MPH.0000000000001041

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN: 1077-4114            Impact factor:   1.289


  2 in total

1.  Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis.

Authors:  Partha Pratim Chakraborty; Shinjan Patra; Sugata Narayan Biswas; Himanshu Barman
Journal:  BMJ Case Rep       Date:  2018-02-23

2.  Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.

Authors:  Andrés Felipe Leal; Wendy G Nieto; Estephania Candelo; Harry Pachajoa; Carlos Javier Alméciga-Díaz
Journal:  EJIFCC       Date:  2022-04-11
  2 in total

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