Le Peillet Damien, Prendki Virginie, Trombert Véronique, Laffitte Emmanuel, Assal Frédéric, Reny Jean Luc, Serratrice Christine
Department of Internal Medicine, Rehabilitation and Geriatrics, University Hospital of Geneva, Trois-Chêne Hospital, Thônex Department of Dermatology, University Hospital of Geneva Department of Clinical Neurosciences, University Hospital of Geneva School of medicine, University of Geneva, Geneva, Switzerland.
Medicine (Baltimore). 2018 Mar;97(13):e0188. doi: 10.1097/MD.0000000000010188.
Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy). The diagnosis is usually made in first decades but is sometimes delayed. Parkinson disease, neoplasia, and immune system abnormalities may be associated with GD1.
A patient known for hepatosplenomegaly with hyperferritinemia, anemia, and thrombocytopenia was admitted for Lewy body dementia and bullous pemphigoid.
Type 1 Gaucher disease.
No specific treatment started.
patient died ten months later due to pneumonia.
To the best of our knowledge, this is the first case of the association between GD1, bullous pemphigoid, and Lewy body dementia. We discuss the central role of alpha-synuclein in these pathologies.
戈谢病（GD）是一种罕见的遗传性溶酶体贮积症，以常染色体隐性模式遗传。GD是由于溶酶体酶酸性β-葡萄糖苷酶（或葡糖脑苷脂酶）缺乏所致。1型戈谢病（GD1）的特征为血小板减少、贫血、脾肿大和肝肿大以及骨骼并发症（烧瓶状畸形、骨质疏松、溶骨性病变、病理性骨折和椎体骨折、骨梗死以及导致退行性关节病的缺血性坏死）。诊断通常在最初几十年做出，但有时会延迟。帕金森病、肿瘤形成和免疫系统异常可能与GD1有关。
一名因肝脾肿大、高铁蛋白血症、贫血和血小板减少而闻名的患者因路易体痴呆和大疱性类天疱疮入院。
1型戈谢病。
未开始进行特异性治疗。
患者10个月后因肺炎死亡。
据我们所知，这是首例GD1、大疱性类天疱疮和路易体痴呆相关联的病例。我们讨论了α-突触核蛋白在这些疾病中的核心作用。
