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

• Published in: Journal of pediatric hematology/oncology Vol. 40; no. 1; p. 74
• Main Authors: Lukefahr, Ashley L, Proytcheva, Maria
• Format: Journal Article
• Language: English
• 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

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...