1. Severe MPS II (Hunter syndrome) in a 6-year-old boy
Severe MPS II (Hunter syndrome) in a 6-year-old boy. Diagnosis was suspected at 1 year of age because of facial appearance, but a urine mucopolysaccharide screen was negative. Enzymatic diagnosis was made at age 22 months after a family history of a maternal uncle with mental retardation and coarse facial features became known to the parents. At the time the picture was taken, the patient had hepatomegaly, joint stiffness, severe hearing loss, developmental delay, recurrent ear infections, and hyperactivity. From about 1 to 7 years of age, he was hyperactive to the point of being uncontrollable and required less than 2 h of sleep per night. At age 8, he had an unsteady gait, refused to eat solid foods, and had significant loss of overall skills. For the next 4 years, his functioning level was stable with decreased hyperactivity. By age 13, he could no longer walk, had severe joint involvement, and had weight loss due to progressive problems with swallowing. His chronic nasal discharge and frequent ear infections have much improved since the age of 10. He was never toilet trained, and has had severe constipation for the last 7 years, requiring frequent enemas. Now 18 years old, he has limited movement with poor trunk support, as well as minimal awareness of his surroundings. He constantly chews on his hands and soft objects. A gastrostomy tube was recently placed to supplement feeding.
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 04, 2017
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