Clinical History:
Teenage male with normal developmental milestones but difficulty playing sports or running.
What is the diagnosis?
Here are the diagnostic images for reference:
Diagnosis:
Pompe disease, again! This is the same Pompe disease case that we have previously posted. The histology of the specimen shows fiber hypertrophy with severe splitting and numerous intrasarcoplasmic inclusions. A histological diagnosis of a myopathy with autophagic vacuoles with sarcolemmal features (AVSF) would be very reasonable. Including Pompe disease, other causes of AVSF include X-linked myopathy with excessive autophagy, Danon disease, desminopathy, neuronal ceroid lipofuscinosis, and toxic myopathy related to hydroxychloroquine or colchicine.
References:
Sugie K. J Neuropathol Exp Neurol. 2005;64:513-22.; Weihl CC. Neuromuscul Disord. 2015;25:199-206.; Cortese A. Neurology. 2014;82:2072-2076.; Mair D. Brain Pathol. 2020;30(5):877-896.
Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.
