Peinado Cabrera E J, Bernat Condomina G, Serrano Corredor S, Navarro Téllez M P, Moragón Gordon M
Servicio de Medicina Interna, Hospital General, Elda (Alicante).
An Med Interna. 1997 Mar;14(3):135-8.
We report the case of a 28-year-old woman attending for hirsutism and diabetes mellitus. Diabetes was a casual finding 2 years before consulting and was treated with diet and antidiabetic drugs. Acromegalic appearance, facial acne, penty, curled and rude hair, hypertrichosis, ade I diffuse goitre, prominent abdomen with umbilical hernia, severe hepatomegaly, prominent muscles and veins with normal genitalia appeared in the physical examination. No other abnormalities were found. Hypophysis, thyroid, suprarenal and ovaric hormonal functional studies were normal. An insulin-resistant diabetes mellitus was found in the metabolic study. Ultrasound and TAC showed severe diffuse hepatomegaly and visceral fat lack. Bone radiographies showed diffuse lesions compatible with polyostotic dysplasia. Subcutaneous, hepatic and bone biopsy revealed lack of fat tissue, hepatic steatosis and osteal fibrosis. Patient s diagnosis was Berardinelli-Seip syndrome, Seip-Lawrence or lipoatrophic diabetes associated with polyostotic fibrotic dysplasia. Case is studies and bibliographic references are reviewed.
我们报告了一名28岁因多毛症和糖尿病前来就诊的女性病例。糖尿病是在就诊前2年偶然发现的,采用饮食和抗糖尿病药物治疗。体格检查发现有肢端肥大症面容、面部痤疮、肥胖、毛发卷曲且粗糙、多毛、I度弥漫性甲状腺肿、伴有脐疝的突出腹部、严重肝肿大、肌肉和静脉突出以及生殖器正常。未发现其他异常。垂体、甲状腺、肾上腺和卵巢激素功能研究均正常。代谢研究发现为胰岛素抵抗型糖尿病。超声和计算机断层扫描显示严重弥漫性肝肿大和内脏脂肪缺乏。骨X线片显示与多骨发育异常相符的弥漫性病变。皮下、肝脏和骨活检显示脂肪组织缺乏、肝脂肪变性和骨纤维化。患者诊断为贝拉尔迪内利-塞普综合征、塞普-劳伦斯综合征或与多骨纤维发育异常相关的脂肪萎缩性糖尿病。对该病例进行了研究并查阅了文献参考资料。