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一名14岁患有骨骼畸形的女孩的原发性甲状旁腺功能亢进症。

Primary hyperparathyroidism in a 14 year old girl presenting with bone deformities.

作者信息

Menon P S, Madhavi N, Mukhopadhyaya S, Padhy A K, Bal C S, Sharma L K

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.

出版信息

J Paediatr Child Health. 1994 Oct;30(5):441-3. doi: 10.1111/j.1440-1754.1994.tb00698.x.

DOI:10.1111/j.1440-1754.1994.tb00698.x
PMID:7833084
Abstract

A 14 year old girl with bilateral genu valgum of 6 years duration was brought for evaluation of primary hyperparathyroidism. She had clinical features of rickets such as frontal bossing, rachitic rosary, lumbar lordosis and fixed adduction deformity of the left leg. She had undergone osteotomy earlier for correction of these deformities without benefit. Laboratory investigations showed hypercalcaemia and hypophosphataemia, with elevated alkaline phosphatase and parathyroid hormone levels. A skeletal survey showed generalized decreased density of bone and brown tumours and, coincidentally, a right renal calculus. A computerized tomography scan of the neck and thallium-technetium subtraction scan delineated an adenoma of the left superior parathyroid gland, which was surgically removed. Parathyroid adenoma manifesting with bone deformities, especially genu valgum, is very rare in children. Early diagnosis and prompt treatment is essential to prevent such deformities.

摘要

一名14岁女孩,双侧膝外翻已持续6年,前来评估原发性甲状旁腺功能亢进症。她有佝偻病的临床特征,如前额突出、佝偻病串珠、腰椎前凸和左腿固定内收畸形。她早些时候曾接受截骨术以矫正这些畸形,但并无效果。实验室检查显示血钙过高和血磷过低,碱性磷酸酶和甲状旁腺激素水平升高。骨骼检查显示全身骨密度降低和棕色瘤,巧合的是,还有右肾结石。颈部计算机断层扫描和铊-锝减影扫描显示左上甲状旁腺腺瘤,该腺瘤已通过手术切除。甲状旁腺腺瘤表现为骨骼畸形,尤其是膝外翻,在儿童中非常罕见。早期诊断和及时治疗对于预防此类畸形至关重要。

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