Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Department of Pediatrics (Child Neurology Division), All India Institute of Medical Sciences, New Delhi, India.
Neurol India. 2022 Jul-Aug;70(4):1643-1648. doi: 10.4103/0028-3886.355110.
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.
X 连锁伴过度自噬性肌病（XMEA）是一种罕见的、最近才被描述的自噬性空泡性肌病类型，由 VMA21 基因突变引起。其特征为进行性缓慢加重的近端肢体肌无力，一般预后良好。其特征性的组织学和超微结构特征可将其与其他类似疾病区分开来，特别是丹-东综合征。XMEA 是一种认识不足的疾病，在儿童进行性肌病的鉴别诊断中应考虑到这种疾病。鉴于其良好的预后，病理学家了解这种罕见疾病也很重要，以便将其与其他导致空泡性肌病的原因区分开来。我们报道了首例来自印度的经基因证实的 XMEA 病例，该病例是根据肌肉活检的特征性光镜和超微结构发现，并随后通过突变分析得到确诊。还讨论了鉴别诊断的考虑因素。
