Clinical History
The patient is a 16 year old male with a longstanding gait abnormality. Genetic testing reveals a pathological mutation.
What is the diagnosis?
Figure 1:
Figure 2:
Diagnosis:
Pompe disease (acid maltase deficiency; glycogen storage disease type II)
- Rare genetic disorder due to mutation in GAA which encodes for the alpha-glucosidase enzyme
- Both early (severe) and late (milder) onset variants. This case is a late onset variant; however there is significant muscle injury
- Therapy with enzyme replacement can improve muscle function and decreased abnormal glycogen storage.
References:
- Werneck LC. Arq Neuropsiquiatr. 2013;71:284-9
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