TY - CHAP M1 - Book, Section TI - I-Cell Disease A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - I-cell disease is a genetically inherited lysosomal storage disease that is caused by a defective phosphotransferase enzyme that is located in the Golgi apparatus. This mucolipidosis II (ML II) is a particularly severe form of mucoliposis that resembles clinically the Hurler Syndrome but without mucopolysaccharides. It is originally characterized by the presence of intracytoplasmic inclusions in fibroblasts (“inclusion cells” or “I cells”). Clinical features include by the age of 6 months, severe failure to thrive and developmental delays, abnormal skeletal development, coarse facial features, and restricted articular movements. Other characteristics include mental retardation, dwarfism, hepatomegaly, splenomegaly, and cardiac valvular anomalies. These young patients are often affected with recurrent respiratory tract infections, particularly pneumonia, bronchitis, and otitis media. Children with ML II generally die before their seventh year of life as a result of congestive heart failure and recurrent respiratory tract infections. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164073572 ER -