Choi Eun Mi, Jung Nani, Shim Ye Jee, Choi Hee Joung, Kim Joon Sik, Kim Heung Sik, Song Kwang Soon, Lee Hee Jung, Kim Sang Pyo
Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Department of Orthopedics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
Ann Pediatr Endocrinol Metab. 2016 Dec;21(4):240-244. doi: 10.6065/apem.2016.21.4.240. Epub 2016 Dec 31.
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation was not found. Her height was under the 3rd percentile and her bone age was delayed as compared with her chronological age. Baseline growth hormone (GH) level was below the normal range. Using the insulin stimulation and levo-dihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS.
一名9岁的塔吉克斯坦女孩前往庆熙大学东山医疗中心，对其左眼睑皮肤病变、局灶性脱发、单侧脑室扩张和主动脉缩窄进行评估。根据莫格诊断标准，她被诊断为脑颅皮肤脂肪瘤病（ECCL）。在她躯干左侧发现了咖啡斑。对其四肢进行成像检查后，在她的左肱骨近端、左股骨远端、双侧胫骨近端和左腓骨近端发现了多个非骨化性纤维瘤，提示贾菲-坎帕纳奇综合征（JCS）。许多伴有多个咖啡斑和多个非骨化性纤维瘤的JCS病例实际上可能患有1型神经纤维瘤病（NF1）。因此，使用她的血样进行了全面的分子分析以排除NF1突变。未发现NF1突变。她的身高低于第3百分位，骨龄与实际年龄相比延迟。基础生长激素（GH）水平低于正常范围。通过胰岛素刺激试验和左旋多巴试验，确诊为生长激素缺乏症。我们报告一例具有ECCL和JCS典型特征的生长激素缺乏症病例。
