1. MPS IH/S (Hurler-Scheie syndrome) in a 14. 5-year-old boy
MPS IH/S (Hurler-Scheie syndrome) in a 14.5-year-old boy. The patient demonstrates short stature, stiff joints, micrognathia, corneal clouding, umbilical hernia, hepatosplenomegaly, a systolic murmur, and normal intelligence. Diagnosis was made at the age of 1 year based on skeletal abnormalities consistent with MPS. At age 10, during attempted endotracheal intubation for carpal tunnel surgery, the patient had a respiratory arrest. Progressive joint restriction and corneal clouding had been the major clinical problems until the age of 16, when the symptoms of obstructive apnea and congestive heart failure developed. Nasal continuous positive airway pressure while sleeping dramatically relieved the obstructive apnea, alleviating the need for a tracheostomy. He had increasing visual loss with development of glaucoma, which was difficult to treat. He graduated from high school at age 19 and attended college. He died at age 21 from complications of open-heart surgery 4 days after an aortic valve replacement. Valvuloplasty (aortic and mitral) procedures prior to the attempt at valve replacement had some clinical benefit.
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: December 27, 2017
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