Beires Francisca, Greenfield Helena, Brito da Silva José, Gil João, Moreno Nuno
Department of Internal Medicine, Hospital Pedro Hispano, Senhora da Hora, Portugal.
Department of Medical Oncology, Instituto Português de Oncologia do Porto FG, EPE, Porto, Portugal.
Eur J Case Rep Intern Med. 2022 Dec 14;9(12):003658. doi: 10.12890/2022_003658. eCollection 2022.
A 60-year-old man, with a history of familial lipodystrophy, hypertriglyceridaemia, hepatic steatosis and bone cysts, was admitted due an acute coronary event. Coronary angiography showed significant stenosis in the left anterior descending artery, which was treated. Transthoracic echocardiography showed a slightly dilated left ventricle with diffuse and heterogeneous thickening of its walls, slightly decreased left ventricular function and reduced global longitudinal strain. Due to these echocardiographic findings, cardiac magnetic resonance imaging was requested, which identified intramyocardial diffuse fibrosis of the basal septum and points of insertion of the left and right ventricles, without oedema, microvascular obstruction or myocardial infarction. Owing to the constellation of symptoms and distinctive features on cardiac imaging, a diagnosis of Berardinelli-Seip congenital lipodystrophy (BSCL) was suspected, which was confirmed through genetic testing of the pathogenic variants in BSCL2 and AGPAT2. BSCL is a rare autosomal recessive syndrome characterized by the congenital absence of adipose tissue and triglyceride deposition in other tissues, such as muscle, liver and heart.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare congenital lipodystrophy, with an incidence of 1-9 per million population, which is usually diagnosed at birth and is associated with pathogenic variants of the BSCL2 and AGPAT2 genes.Due to the absence of functional adipocytes, lipid storage occurs in other tissues, including skeletal muscle and liver.Diagnosis is based on the presence of three major or two major and two minor characteristics.
一名60岁男性，有家族性脂肪营养不良、高甘油三酯血症、肝脂肪变性和骨囊肿病史，因急性冠状动脉事件入院。冠状动脉造影显示左前降支严重狭窄，已进行治疗。经胸超声心动图显示左心室轻度扩张，室壁弥漫性增厚且不均匀，左心室功能轻度下降，整体纵向应变降低。鉴于这些超声心动图表现，要求进行心脏磁共振成像，结果显示基底部室间隔及左右心室附着点存在心肌内弥漫性纤维化，无水肿、微血管阻塞或心肌梗死。由于症状组合及心脏成像的独特特征，怀疑为贝拉尔迪内利 - 塞普先天性脂肪营养不良（BSCL），通过对BSCL2和AGPAT2致病变异的基因检测得以确诊。BSCL是一种罕见的常染色体隐性综合征，其特征为先天性脂肪组织缺失以及甘油三酯在其他组织（如肌肉、肝脏和心脏）中沉积。
贝拉尔迪内利 - 塞普先天性脂肪营养不良（BSCL）是一种罕见的先天性脂肪营养不良，发病率为每百万人口1 - 9例，通常在出生时诊断，与BSCL2和AGPAT2基因的致病变异有关。由于缺乏功能性脂肪细胞，脂质储存在其他组织中，包括骨骼肌和肝脏。诊断基于存在三个主要特征或两个主要特征及两个次要特征。
