Late-onset glycogen storage disease type II - Pompe disease

Case contributed by Mackenna L. Senti


Presented to the emergency department with >1 month of intermittent chest pain and previously diagnosed Pompe disease.

Patient Data

Age: 50 years
Gender: Male

Fatty muscular infiltration and muscular atrophy is seen diffusely throughout the patient's body. In particular, the images above demonstrate fatty replacement in the following muscles: tongue, intercostals, pectorals, abdominal wall, paraspinal muscles, gluteals (medius, minimus, and maximus), and the thighs. 

Case Discussion

This patient with previously diagnosed Pompe disease presented to the hospital with symptoms concerning for cardiac ischemia, and later developed stroke-like symptoms. CT of the brain, chest, abdomen, and pelvis was obtained and incidental findings characteristic of Pompe disease were demonstrated. 

This patient displayed characteristic muscle wasting on physical exam and diffuse muscular fatty replacement and atrophy on CT imaging. In patients with Pompe disease, the tongue is often significantly involved and in this patient, the tongue was diffusely thickened, enlarged, and nearly entirely fat replaced. Additionally, there was significant atrophy and fatty replacement of the abdominal muscles, intercostals, paraspinal muscles, gluteal muscles (medius, minimus, and maximus), and the muscles of the thigh. Some muscles, such as the patient's pectorals, were completely atrophic. 

Previously, the patient presented with dysphagia, progressive extremity weakness, and gait impairment. Labs revealed elevated C-reactive protein, erythrocyte sedimentation rate, creatine kinase, lactate dehydrogenase, and aspartate transferase, altogether consistent with the presumed diagnosis. Additionally, GAA levels measured 0.19 µmol/L/h (adult reference value: 2.10-29.00 μmol/L/h). Electromyography and nerve conduction studies showed a myopathic process with denervating features. Subsequent genetic sequencing revealed two pathogenic acid alpha-glucosidase (GAA) enzyme variants, diagnostic for Pompe disease. Treatment was initiated with enzyme replacement therapy. 

Case authors: Senti M, Le J, Rao A.

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