Adult onset glycogen storage disease type 2

Case contributed by Dr Ayeshea Shenton


Presented to the Emergency Department (ED) with several weeks decline including breathlessness, confusion and drowsiness.

Patient Data

Age: 55 years
Gender: Male

Whole Body CT with Contrast


Atrophy and fatty replacement in:


•Latissimus dorsi

•Paraspinal muscles

•Abdominal wall muscles

•Psoas, iliacus

•Gluteals (minor and medius > maximus)


Note the ET tube in situ as the respiratory failure required ITU admission.

Case Discussion

As initial CT brain and chest radiography were normal a whole-body Computed Tomography (CT) scan was requested to look for an underlying malignancy. This was negative for malignancy but revealed an unusual pattern of severe muscular atrophy with extensive fatty infiltration initially noted to involve the abdominal wall, psoas and para-spinal muscles. The significance of this was not initially appreciated but it was described in the report.

The report was subsequently read by a Consultant Neurologist who was reviewing the patient and the described abnormality led to a suspicion of glycogen storage disease. 

On further questioning a >6month history of progressive fatigue and gait abnormality was revealed. 

A subsequent radiology review with the suspected diagnosis in mind confirmed the characteristic pattern of muscle involvement seen in Pompe disease.

The muscle abnormality was found to be the cause of the presenting respiratory failure and other symptoms.

The diagnosis was confirmed by measuring acid-maltase levels and these were found to be very low.

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