Pediatrics, KS Hegde Medical Academy, NITTE Deemed to be University, Mangalore, India.
Pediatrics, KS Hegde Medical Academy, NITTE Deemed to be University, Mangalore, India
BMJ Case Rep. 2021 Feb 23;14(2):e240418. doi: 10.1136/bcr-2020-240418.
Single median maxillary central incisor (SMMCI) syndrome is rare. It is commonly associated with other midline defects. About 50% of children with SMMCI have short stature, associated with isolated growth hormone deficiency or panhypopituitarism.A 6-year-old girl presented to us with worsening convergent squint, slowing linear growth and a suspected pituitary macroadenoma on neuroimaging. The key findings on examination included a disproportionate short stature, SMMCI, congenital abduction defect and pseudohypertrophy of calf muscles with myopathy. The evaluation showed autoimmune thyroiditis with pituitary hyperplasia. Bone age corresponded to 3 years.Three months after initiation of thyroxine, her myopathy resolved, and the hormone profile and neuroimaging were normal. Autoimmune thyroiditis in association with SMMCI is not reported previously. This case study emphasises the importance of growth monitoring and the exclusion of common treatable conditions.
单一正中上颌中切牙（SMMCI）综合征较为罕见。其通常与其他中线缺陷相关。约 50%的 SMMCI 患儿身材矮小，与孤立性生长激素缺乏症或全垂体功能减退症相关。
一位 6 岁女孩因进行性内斜视、线性生长缓慢以及神经影像学检查疑似垂体大腺瘤而就诊于我们。检查的主要发现包括不成比例的身材矮小、SMMCI、先天性外展缺陷和小腿假性肥大伴肌病。评估显示存在自身免疫性甲状腺炎伴垂体增生。骨龄与 3 岁相符。
开始使用甲状腺素治疗 3 个月后，其肌病得到缓解，激素谱和神经影像学检查均正常。自身免疫性甲状腺炎伴 SMMCI 以前并未报道过。该病例研究强调了生长监测和排除常见可治疗疾病的重要性。
