Glycogen Storage Disease Type II Pompe Disease

What this deck covers

Glycogen Storage Disease Type II Pompe Disease in sixteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the sixteen cases you are asked to choose between options such as: Dilated cardiomyopathy from viral myocarditis, GSD type III (Cori disease), GSD type II — infantile-onset Pompe disease, Danon disease, Muscle biopsy with PAS staining, Serum lactate and pyruvate, Prolonged QT interval, Right bundle branch block, ST-segment elevation, Short PR interval with high-voltage QRS complexes, Opisthotonos with hyperreflexia and clonus, Spastic paraparesis with extensor plantar responses, Hepatosplenomegaly and icterus, Peripheral neuropathy with absent ankle jerks, Facial diplegia and ptosis, Muscle biopsy (PAS stain) plus serum CK, Echocardiogram plus brain MRI, Urine oligosaccharides plus serum lactate, Serial echocardiograms every 6 months, Annual nerve conduction studies and EMG, Brain MRI with gadolinium every 2 years, Infantile-onset Pompe disease (IOPD), GSD type V (McArdle disease), GSD type IX, Initiate high-protein dietary therapy immediately, Discontinue ERT and switch to dietary therapy.

Clinical pearls from this deck

• The cardinal triad of infantile-onset Pompe is hypertrophic cardiomyopathy + profound hypotonia + respiratory failure, with a raised CK. GAA enzyme activity is below 1% of normal.
• The dried blood spot GAA assay is first-line for every form of Pompe — minimally invasive, a simple heel-prick or fingerprick, and it detects both infantile and late-onset disease. All screen-positives then require confirmatory testing.

The sixteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.