RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164073572 T1 I-Cell Disease T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accesspediatrics.mhmedical.com/content.aspx?aid=1164073572 RD 2024/03/28 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.