de Wazieres B, Wendling D, Fest T, Morin G, Dupond J L
Service de Médecine Interne, Immunologie Clinique et Gériatrie, CHU Jean Minjoz, Besançon.
Rev Rhum Mal Osteoartic. 1992 Nov 30;59(11):761-4.
Lipoatrophic diabetes, known by pediatricians as Lawrence-Seip disease or Berardinelli lipodystrophy syndrome, is an infrequent condition of which approximately one hundred cases have been published to date. A case in a 24-year-old female with a fifteen-year follow-up is reported. Manifestations included acanthosis nigricans, generalized lipoatrophy, hirsutism, muscle hypertrophy, and intellectual impairment. Biologic tests revealed insulin-resistant diabetes mellitus with major diet-dependent type V hypertriglyceridemia. The patient had nephrotic syndrome (focal and segmental endocapillary proliferative glomerulonephritis without dense deposits). Phosphorus and calcium determinations were normal, as were the endocrinologic tests. Roentgenograms of the bones disclosed increased density of axial bones and large epiphyseal defects with increased bone density as determined by osteodensitometric studies. The bone manifestations of this syndrome have been documented but are often overshadowed by the severe metabolic alterations.
脂肪萎缩性糖尿病，儿科医生称之为劳伦斯 - 塞普病或贝拉尔迪内利脂肪营养不良综合征，是一种罕见病症，迄今为止约有100例病例被报道。本文报告了一例随访15年的24岁女性病例。临床表现包括黑棘皮症、全身性脂肪萎缩、多毛症、肌肉肥大和智力障碍。生物学检查显示胰岛素抵抗性糖尿病伴主要依赖饮食的V型高甘油三酯血症。该患者患有肾病综合征（局灶性节段性毛细血管内增生性肾小球肾炎，无致密沉积物）。磷和钙测定正常，内分泌检查也正常。骨骼X线片显示中轴骨密度增加，骨密度测量研究确定骨骺有大的缺损且骨密度增加。该综合征的骨骼表现已有文献记载，但常被严重的代谢改变所掩盖。
