Alzu'bi Ali A, Al-Sarihin Khaldon K, Eteiwi Suzan, Al-Asaad Rania A, Al Eyadah Abdallah A, Khreisat Maysa, Al-Omari Ahmad A, Haddad Fares H
Department of Internal Medicine, Endocrine Division, King Hussein Medical Centre, Amman, Jordan.
Oman Med J. 2020 Jun 30;35(3):e135. doi: 10.5001/omj.2020.53. eCollection 2020 May.
Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) is an autosomal recessive condition, presenting during infancy with generalized loss of fat. We report a 30-year-old female patient with diabetes who has acromegaloid features, prominent umbilicus, prominent muscles, prominent subcutaneous veins, and gross hepatomegaly. Near-total loss of subcutaneous fat was confirmed by whole-body magnetic resonance imaging and laboratory data revealed significant hypertriglyceridemia, uncontrolled diabetes mellitus, and heavy proteinuria with stage IIIa chronic kidney disease. Her blood film revealed thrombocytosis that on further evaluation by bone marrow biopsy was confirmed to be a myeloproliferative neoplasm (MPN); essential thrombocytosis (ET). She also had skin lesions that were proven to be reactive perforating collagenosis and necrobiosis lipoidica diabeticorum. She was managed conservatively and received interferon injections with fair general condition and control of her ET. However, her kidney function deteriorated furthermore to stage V chronic kidney disease requiring regular treatment with hemodialysis. We believe this is a unique case of Berardinelli-Seip syndrome with MPN that could be a coincidental association or part of a new syndrome.
先天性全身脂肪营养不良（贝拉尔迪内利 - 塞普综合征）是一种常染色体隐性疾病，在婴儿期出现全身脂肪缺失。我们报告了一名30岁患有糖尿病的女性患者，她有肢端肥大样特征、脐突出、肌肉突出、皮下静脉明显以及肝脏明显肿大。全身磁共振成像证实皮下脂肪几乎完全缺失，实验室数据显示有显著的高甘油三酯血症、未控制的糖尿病以及伴有Ⅲa期慢性肾脏病的大量蛋白尿。她的血涂片显示血小板增多，经骨髓活检进一步评估证实为骨髓增殖性肿瘤（MPN）；原发性血小板增多症（ET）。她还有经证实为反应性穿通性胶原病和糖尿病性类脂质渐进性坏死的皮肤病变。她接受了保守治疗并注射干扰素，一般状况尚可，ET得到控制。然而，她的肾功能进一步恶化为Ⅴ期慢性肾脏病，需要定期进行血液透析治疗。我们认为这是一例伴有MPN的贝拉尔迪内利 - 塞普综合征的独特病例，可能是一种巧合的关联，或者是一种新综合征的一部分。
