O'Neill Brendan, Simha Vinaya, Kotha Vani, Garg Abhimanyu
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas.
Am J Med Genet A. 2007 Jul 1;143A(13):1421-30. doi: 10.1002/ajmg.a.31840.
Neonatal progeroid syndrome (NPS), also known as Wiedemann-Rautenstrauch Syndrome, is a rare autosomal recessive disorder characterized by accelerated aging and lipodystrophy from birth. Affected children have extreme intrauterine growth retardation, poor postnatal weight gain, and characteristic facial dysmorphic features such as a triangular shape, pinched nose, pseudohydrocephalus with wide fontanelles and prominent subcutaneous (sc) veins. Generalized loss of sc fat has been reported as a cardinal feature; however, the pattern of fat loss and its association with insulin resistance and its metabolic complications have not been systematically studied. The aim of the current study was to examine body fat distribution and body composition in two girls with NPS using anthropometric measures, whole-body magnetic resonance imaging (MRI) and dual energy X-ray absorptiometry (DEXA), and to assess metabolic complications such as hyperinsulinemia and dyslipidemia. Both the girls (aged 17 years and 10 years, respectively) had generalized paucity of sc fat on physical examination. However, measurements of skin-fold thickness revealed that sc fat was decreased over the extremities, but preserved over the chest and abdomen. MRI studies confirmed the presence of normal amounts of sc truncal fat, and marked loss of fat from the face and distal extremities. Striking fat loss was also noted in the paravertebral and lateral gluteal regions. Interestingly, body composition analysis with DEXA scan revealed a marked reduction in both the fat and lean tissue mass. Fasting glucose, lipids and insulin levels were not elevated. We conclude that patients with NPS do not have generalized lipodystrophy as previously reported, but fat loss is confined to the face, distal extremities, and possibly the paravertebral and lateral gluteal regions. Metabolic abnormalities related to insulin resistance are also uncommon in this condition.
新生儿早老综合征（NPS），也称为维德曼 - 劳滕施劳赫综合征，是一种罕见的常染色体隐性疾病，其特征是从出生起就出现加速衰老和脂肪营养不良。患病儿童有严重的宫内生长迟缓、出生后体重增加不佳，以及特征性的面部畸形特征，如三角形脸、尖鼻、囟门宽大伴假性脑积水和明显的皮下静脉。皮下脂肪普遍缺失已被报道为主要特征；然而，脂肪丢失的模式及其与胰岛素抵抗及其代谢并发症的关联尚未得到系统研究。本研究的目的是使用人体测量学方法、全身磁共振成像（MRI）和双能X线吸收法（DEXA）检查两名NPS女孩的身体脂肪分布和身体成分，并评估高胰岛素血症和血脂异常等代谢并发症。两名女孩（分别为17岁和10岁）体格检查均显示皮下脂肪普遍减少。然而，皮褶厚度测量显示四肢皮下脂肪减少，但胸部和腹部皮下脂肪保留。MRI研究证实躯干皮下脂肪量正常，面部和远端肢体脂肪明显减少。椎旁和臀外侧区域也有明显的脂肪丢失。有趣的是，DEXA扫描的身体成分分析显示脂肪和瘦组织量均显著减少。空腹血糖、血脂和胰岛素水平未升高。我们得出结论，NPS患者并不像先前报道的那样存在全身性脂肪营养不良，而是脂肪丢失局限于面部、远端肢体，可能还有椎旁和臀外侧区域。在这种情况下，与胰岛素抵抗相关的代谢异常也不常见。
