1. MPS IH (Hurler syndrome) in a 4-year-old boy
MPS IH (Hurler syndrome) in a 4-year-old boy. Diagnosis was made at the age of 15 months, at which time he had developmental delay, hepatomegaly, and skeletal involvement. At the time of the picture, the patient had short stature, an enlarged tongue, persistent nasal discharge, stiff joints, and hydrocephalus. Verbal language skills consisted of four to five words. The patient had a severe hearing loss and wore hearing aids. He was able to learn sign language, which greatly improved communication. A ventriculoperitoneal shunt was placed after progressive ventricular enlargement was observed and elevated central nervous system pressure measured under anesthesia. He died after a respiratory arrest occurred while he was riding the school bus shortly before his seventh birthday. Two to 3 months before his death he had a rapid decline of muscle tone resulting in progressive breathing problems, poor head control, and inability to walk. His father described him as a happy child who didn't complain and was a joy to be around.
Source: The Mucopolysaccharidoses, 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: November 10, 2017
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