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Year : 2022  |  Volume : 70  |  Issue : 4  |  Page : 1643--1648

X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children

1 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Pediatrics (Child Neurology Division), All India Institute of Medical Sciences, New Delhi, India
3 Department of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India

Correspondence Address:
Mehar Chand Sharma
Professor, Department of Pathology, All India Institute of Medical Sciences, New Delhi - 110 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.355110

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X-linked myopathy with excessive autophagy (XMEA) is a rare, recently characterized type of autophagic vacuolar myopathy caused by mutations in the VMA21 gene. It is characterized by slowly progressive weakness restricted to proximal limb muscles and generally has a favorable outcome. The characteristic histological and ultrastructural features distinguish this entity from other mimics, notably Danon disease. XMEA is an under recognized disease and should be considered in the differentials of slowly progressive myopathy in children. Awareness of this rare entity is also important for the pathologists in order to distinguish it from other causes of vacuolar myopathy in view of its favourable prognosis. We report the first genetically confirmed case of XMEA from India in an 8-year-old boy which was diagnosed based on the characteristic light microscopic and ultrastructural findings on muscle biopsy and subsequently confirmed by mutation analysis. The differential diagnostic considerations are also discussed.


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