1. MPS IIIA (Sanfilippo syndrome, type A) in a 7-year-old girl
MPS IIIA (Sanfilippo syndrome, type A) in a 7-year-old girl. The patient had normal developmental skills until about 5 years of age, at which time she was toilet trained, was able to feed and dress herself, and spoke in complete sentences. She was learning to read and write. At the time of the picture, she had a normal physical appearance with mild hepatomegaly, but showed a significant loss of function. At age 11, she was able to feed herself and functioned at a 3- to 4-year-old level. Her language skills were limited, but she was usually able to communicate her needs. She remained toilet trained up to the age of 13. She had minimal deterioration in skills from age 9 to 14, but rapid decline over the next 18 months. She stopped talking at the age of 14. At 15.5 years, her mental abilities were less than those of a year-old infant, but she was able to ride a tricycle, use a spoon, and drink from a cup. With her decline in function, she had outbursts of aggressive behavior that could result in significant harm to others, although previously her hyperactivity was not a major problem. Now 20 years old, she requires constant custodial care, but is still able to feed herself and no longer has behavior outbursts. She still recognizes her parents and enjoys taking walks. She had a severely affected older brother, whose disease progressed more rapidly during childhood. He died accidentally before his seventeenth birthday after choking on a rubber glove.
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 14, 2017
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