Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets

BMC Endocrine Disorders

Case Report

Mohammed Khalid Alrasheed¹  Sawsan Abdel Rahim Mohammed²  Sara MohammedAhmed Gafar³  Ghassan Faisal Fadlalbari⁴  Mohamed Ahmed Abdullah⁵  Isam Ahmed Taha⁶  Asmahan T. Abdalla⁷ 

[1] Department of Orthopaedics and Traumatology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan;Department of Pathology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan;Department of Pediatric Endocrinology, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan;Department of Pediatric Endocrinology, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan;Sudan Childhood Diabetes Center, Khartoum, Sudan;Department of Pediatric Endocrinology, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan;Sudan Childhood Diabetes Center, Khartoum, Sudan;Department of Pediatrics and Child Health, Faculty of Medicine,

[2] University of Khartoum, Khartoum, Sudan;Department of pediatric surgery, National Ribat Hospital & Faculty of Medicine, National Ribat University, Khartoum, Sudan;Sudan Childhood Diabetes Center, Khartoum, Sudan;

关键词: Primary hyperparathyroidism;    Parathyroid adenoma;    Genu valgum;    Adolescents;    Vitamin D deficiency;   

DOI  :  10.1186/s12902-022-01241-x

 received in 2021-08-24, accepted in 2022-12-06,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundJuvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets.Case presentationA 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. It was associated with fatigability, poor appetite, and generalized bone pain. On examination, he was thin, disproportionately short and pubertal, and had bilateral genu valgum deformity. X-rays showed osteopenia and signs of rickets. Biochemical workup revealed mildly elevated serum calcium, low phosphate, high alkaline phosphatase, and high parathyroid hormone with low 25-hydroxy vitamin D3. Celiac screening, liver function test and renal profile were normal. Serum calcium rose dramatically after vitamin D therapy. Genetic testing was negative for CYP2R1 and MEN1 genes. Ultrasound neck showed left inferior parathyroid adenoma which was surgically excised. Histopathology confirmed the diagnosis of parathyroid adenoma. Postoperatively, he had hypocalcemia which was treated with calcium and alfacalcidol. Corrective surgery is planned for the genu valgum deformity which markedly improved after parathyroidectomy.ConclusionAlthough PHPT is extremely rare in the young population, it should be considered in patients with rickets and elevated serum calcium at baseline or after initiating vitamin D therapy.

【 授权许可】

CC BY   
© The Author(s) 2022

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