Akinci Gulcin, Topaloglu Haluk, Demir Tevfik, Danyeli Ayca Ersen, Talim Beril, Keskin Fatma Ela, Kadioglu Pinar, Talip Enez, Altay Canan, Yaylali Guzin Fidan, Bilen Habib, Nur Banu, Demir Leyla, Onay Huseyin, Akinci Baris
Department of Pediatric Neurology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1.
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1. Muscle symptoms and hypertrophy were consistent findings in congenital generalized lipodystrophy (21/21) and familial partial lipodystrophy (25/34); on the other hand, overt myopathy with elevated creatine kinase activity was a distinctive characteristic of congenital generalized lipodystrophy type 4. Muscle biopsies revealed myopathic changes at different levels. Accumulation of triglycerides was observed which contributes to insulin resistance. All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in congenital generalized lipodystrophy type 4 (2/2) and familial partial lipodystrophy type 2 (2/17). Atlantoaxial instability was unique to congenital generalized lipodystrophy type 4 (2/2). Bone cysts were detected in congenital generalized lipodystrophy type 1 (7/10) and congenital generalized lipodystrophy type 2 (2/8). Our study suggests that lipodystrophies are associated with a wide spectrum of neuromuscular abnormalities.
脂肪营养不良是一组以脂肪组织丢失为特征的异质性疾病。在此，我们报告土耳其脂肪营养不良患者神经肌肉表现的临床谱。纳入了74例脂肪营养不良患者和20名健康对照。周围感觉运动神经病变在合并糖尿病的脂肪营养不良患者中是常见表现（67.4%）。4例患者出现神经性足部溃疡。1例1型先天性全身性脂肪营养不良患者出现足下垂。肌肉症状和肥大在先天性全身性脂肪营养不良（21/21）和家族性部分性脂肪营养不良（25/34）中是一致的表现；另一方面，肌酸激酶活性升高的明显肌病是4型先天性全身性脂肪营养不良的一个显著特征。肌肉活检显示不同程度的肌病改变。观察到甘油三酯蓄积，这会导致胰岛素抵抗。所有先天性全身性脂肪营养不良患者在不同程度上都有跟腱紧张。4型先天性全身性脂肪营养不良（2/2）和2型家族性部分性脂肪营养不良（2/17）中观察到脊柱侧弯。寰枢椎不稳是4型先天性全身性脂肪营养不良所特有的（2/2）。在1型先天性全身性脂肪营养不良（7/10）和2型先天性全身性脂肪营养不良（2/8）中检测到骨囊肿。我们的研究表明，脂肪营养不良与广泛的神经肌肉异常有关。
