Lysosomal Disorders - Mucopolysaccharidosis Type III

MPS3, Sanfilippo syndrome, is marked by severe neurological symptoms. These include progressive dementia, aggressive behavior, hyperactivity, seizures, some deafness and loss of vision, and an inability to sleep for more than a few hours at a time. This disorder tends to have three main stages. During the first stage, early mental and motor skill development may be somewhat delayed. Affected children show a marked decline in learning between ages 2 and 6, followed by eventual loss of language skills and loss of some or all hearing.

Some children may never learn to speak. In the syndrome's second stage, aggressive behavior, hyperactivity, profound dementia, and irregular sleep may make children difficult to manage, particularly those who retain normal physical strength. In the syndrome's last stage, children become increasingly unsteady on their feet and most are unable to walk by age 10.

Thickened skin and mild changes in facial features, bone, and skeletal structures become noticeable with age. Growth in height usually stops by age 10. Other problems may include narrowing of the airway passage in the throat and enlargement of the tonsils and adenoids, making it difficult to eat or swallow. Recurring respiratory infections are common.

Treatment

No treatment for the underlying cause is available. Medical treatment is supportive and is directed toward improving the patient's quality of life. Because of the varied symptoms seen in mucopolysaccharidosis type III (MPS III), a multidisciplinary approach is indicated (see Consultations). Currently, specific therapies such as bone marrow transplantation (BMT) and enzyme replacement therapy (ERT) are not options for patients with Sanfilippo syndrome.

 

 

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