Reimann Jens, Kohlschmidt Nicolai, Tolksdorf Karen, Weis Joachim, Kuchelmeister Klaus, Roos Andreas
From Muscle Lab, Department of Neurology, University of Bonn Medical Centre, Bonn, Germany (JR, KT), Institute of Clinical Genetics, Bonn, Germany (NK), Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany (JW, AR), Department of Neuropathology, University of Bonn Medical Centre, Bonn, Germany (KK), Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Department of Bioanalytics, Tissue Omics group, Dortmund, Germany (AR), John Walton Muscular Dystrophy Research Centre (JWMDRC), Newcastle University, International Centre for Life, Central Parkway, UK, Newcastle upon Tyne (AR).
J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. doi: 10.1093/jnen/nlx016.
Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities. These cases are a diagnostic challenge, particularly when the eponymous combination of achalasia, Addisonianism and alacrima is incomplete. Therefore, it is in the differential diagnosis for multisystem conditions and should be known to pathologists who diagnose disorders of skeletal muscle. Here, we describe new findings in skeletal muscle histology from the case of a boy of consanguineous Turkish origin whose achalasia provided the only specific clinical clue to the diagnosis. These include myocyte nuclear abnormalities with partially abnormal anti-lamin A/C immunohistochemistry and altered nuclear ultrastructure but without overt abnormalities of nuclear pore morphology. In this case, the condition was associated with a hitherto unreported c.762delC mutation in the nucleoporin gene AAAS.
奥尔格罗夫综合征或三 A 综合征是一种罕见的常染色体隐性疾病，可表现出一系列多系统症状，包括视神经萎缩、小脑共济失调、上下运动神经元体征以及各种神经病变异常。这些病例在诊断上具有挑战性，尤其是当贲门失弛缓症、阿狄森氏病和无泪症的典型组合不完整时。因此，它存在于多系统疾病的鉴别诊断中，诊断骨骼肌疾病的病理学家应该了解这种疾病。在此，我们描述了一名来自土耳其近亲家庭的男孩骨骼肌组织学的新发现，其贲门失弛缓症是诊断的唯一特定临床线索。这些发现包括肌细胞核异常，抗核纤层蛋白 A/C 免疫组化部分异常，核超微结构改变，但核孔形态无明显异常。在这个病例中，该疾病与核孔蛋白基因 AAAS 中一个此前未报道的 c.762delC 突变有关。
