Arambewela Maulee Hiromi, Liyanarachchi Kamani Danushka, Somasundaram Noel P, Pallewatte Aruna S, Punchihewa Gamini L
Department of diabetes and endocrinology, National Hospital of Sri Lanka, Colombo, Sri Lanka.
Department of Radiology, National Hospital Sri Lanka, Colombo, Sri Lanka.
BMC Endocr Disord. 2017 Jul 21;17(1):45. doi: 10.1186/s12902-017-0197-z.
Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma.
A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum. Skeletal survey revealed valgus deformity of knee joints, bilateral subluxation of upper femoral epiphysis(SUFE), epiphyseal displacement of bilateral humeri, rugger jersey spine and subperiosteal bone resorptions in lateral aspects of 2nd and 3rd middle phalanges. There were no radiological manifestations of rickets. Metabolic profile revealed hypercalcemia with hypophosphatemia. Intact parathyroid hormone levels were elevated at 790 pg/ml. Vitamin D levels were deficient. She had low bone mineral density with Z score of -3.4. Vitamin D supplementation resulted in worsening of hypercalcemia without reduction in PTH levels. Tc 99 Sestamibi uptake scan showed abnormal tracer retention in left inferior pole of thyroid. A large parathyroid gland was removed with histology favoring parathyroid adenoma. Post operatively she developed hypocalcemia. Bilateral osteotomy was done for SUFE and further surgeries for correction of limb deformities planned.
PHPT in children is usually diagnosed late when irreversible organ damage has occurred. Children can present with non specific symptoms involving gastrointestinal, musculoskeletal, renal and neurological systems. PHPT can cause disarray in bone and epiphysis in children during pubertal growth spurt. Genu valgum and SUFE are rare skeletal manifestations in PHPT and only 10 cases of genu valgum and 9 cases of SUFE have been reported up to now. So far no cases have been reported on epiphyseal displacement of humeri. Awareness regarding the occurrence of these rare skeletal manifestations especially during puberty is important for early diagnosis to prevent irreversible outcomes.
原发性甲状旁腺功能亢进症（PHPT）在儿童中并不常见，发病率为1:300,000。与成人相比，这种疾病在儿童中常常被漏诊，成人由于常规血液检查在症状前期就能被检测出来。PHPT的病因可能是腺瘤、增生，很少是癌。
一名12岁的斯里兰卡女孩自1年前开始出现进行性行走困难。检查发现她有双侧膝外翻。骨骼检查显示膝关节外翻畸形、双侧股骨上端骨骺半脱位（SUFE）、双侧肱骨骨骺移位、橄榄球衫样脊柱以及第2和第3中节指骨外侧的骨膜下骨质吸收。没有佝偻病的放射学表现。代谢指标显示高钙血症伴低磷血症。完整甲状旁腺激素水平升高至790 pg/ml。维生素D水平缺乏。她的骨密度低，Z评分为-3.4。补充维生素D导致高钙血症恶化，而甲状旁腺激素水平没有降低。锝99甲氧基异丁基异腈摄取扫描显示甲状腺左下极有异常示踪剂滞留。切除了一个大的甲状旁腺，组织学检查支持甲状旁腺腺瘤。术后她出现了低钙血症。对SUFE进行了双侧截骨术，并计划进一步手术矫正肢体畸形。
儿童PHPT通常在发生不可逆器官损害时才被诊断出来。儿童可能出现涉及胃肠道、肌肉骨骼、肾脏和神经系统的非特异性症状。PHPT可在儿童青春期生长突增期间导致骨骼和骨骺紊乱。膝外翻和SUFE是PHPT中罕见的骨骼表现，迄今为止仅报告了10例膝外翻和9例SUFE。到目前为止，尚未有肱骨骨骺移位的病例报告。认识到这些罕见骨骼表现的发生，尤其是在青春期，对于早期诊断以防止不可逆后果很重要。
