1. ML-II (I-cell disease) in a 27-month-old child
ML-II (I-cell disease) in a 27-month-old child. Although abnormalities in appearance were noted by the parents at 2 months, the patient was diagnosed as having Down Syndrome and later Hurler syndrome. At 27 months, I-cell disease was diagnosed on clinical and biochemical bases. The patient showed severe dysostosis multiplex, mental retardation, hepatomegaly, cardiomegaly, recurrent upper respiratory infections, umbilical hernias and diastasis recti abdominis-all progressive. Corneal clouding was apparent on slit-lamp examination and subsequently became grossly evident. (A, B). Front and side views show coarse facies, prominent abdomen, umbilical hernia, joint contractures, and upper lumbar kyphosis. (C) Detail of facies showing characteristic gingival hyperplasia. Source: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Scriver CR, Sly WS, Childs B: Online Metabolic and Molecular Bases of Inherited Disease. Copyright © The McGraw-Hill Companies, Inc. All Rights Reserved.
Source: I-Cell Disease and Pseudo-Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 26, 2017
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