University of San Diego School of Medicine, Department of Pediatrics, Division of Child Development and Community Health, Rady Children's Hospital, San Diego, CA, USA.
J Dev Behav Pediatr. 2010 Sep;31(7):632-4. doi: 10.1097/DBP.0b013e3181ef422a.
A 9-year-old girl was brought for consultation due to autism and a large head circumference. Her birth weight was 6 pounds after a 37-week gestation to a healthy G3P1SAb 2 mother. She had been a healthy child with the exception of the development of a lipomatous lesion on the left thigh, requiring surgical removal at age 3(1/2) years. Autism was diagnosed at age 5 yr by a developmental pediatrician. She did not have cognitive disabilities or a history of seizures. The family history was notable for maternal infertility with no history of developmental disabilities, large body or head size, or malignancy in close relatives.On physical examination, she was a mildly obese girl with a large head. Her weight was 50.4 kg (>95%), height was 142 cm (90%), and head circumference was 60.3 cm (significantly >95%; 4SDs above the mean). Examination of her skin was notable for a 2 x 6 cm scar on her left thigh and three café au lait macules on her trunk. She was Tanner Stage I. Mild hypotonia with normal deep tendon reflexes was observed; the remainder of the neurological examination was normal.Laboratory studies included high-resolution chromosomes, fragile X, metabolic screens, and methylation for Prader Willie Syndrome and Angelman Syndrome; all these studies were normal. Molecular testing of the PTEN gene (phosphatase and tensin homolog protein) revealed a R355X mutation, consistent with the diagnosis of Bannayan-Riley-Ruvalcaba Syndrome (BRRS). In parents and siblings, PTEN test results were negative for mutations.Endocrine evaluation revealed an abnormal thyroid nodule on ultrasound. Computed tomography and positron emission tomography scans raised suspicion of malignancy. She underwent a total thyroidectomy; the pathology report revealed a thyroid adenoma with Hurthle cells. She was treated with thyroid hormone replacement therapy.
一位 9 岁女孩因自闭症和大头围前来就诊。她的母亲身体健康，孕 37 周时生下她，体重为 6 磅。除了 3 岁半时左腿上的脂肪瘤病变需要手术切除外，她一直是一个健康的孩子。5 岁时，她被一位发育儿科医生诊断为自闭症。她没有认知障碍或癫痫病史。家族史中母亲有不孕史，但没有发育障碍、大头或大体型或近亲恶性肿瘤的病史。体格检查发现，她是一个轻度肥胖的女孩，头围较大。她的体重为 50.4 公斤（超过 95%），身高为 142 厘米（90%），头围为 60.3 厘米（明显>95%；比平均值高 4 个标准差）。她的皮肤检查发现左大腿有一个 2x6 厘米的疤痕和三个躯干上的咖啡斑牛奶斑。她处于 Tanner Ⅰ期。观察到轻度张力减退伴正常深腱反射；其余神经系统检查正常。实验室研究包括高分辨率染色体、脆性 X、代谢筛查以及普瑞德威利综合征和安格曼综合征的甲基化检测；所有这些研究均正常。PTEN 基因（磷酸酶和张力蛋白同源蛋白）的分子检测显示 R355X 突变，符合 Bannayan-Riley-Ruvalcaba 综合征（BRRS）的诊断。在父母和兄弟姐妹中，PTEN 检测结果未发现突变。内分泌评估显示超声检查有异常甲状腺结节。计算机断层扫描和正电子发射断层扫描提示恶性肿瘤可能。她接受了全甲状腺切除术；病理报告显示甲状腺腺瘤伴 Hurthle 细胞。她接受了甲状腺激素替代治疗。
