Primary hyperparathyroidism presenting as bilateral genu valgum

Sowmini P Kamath; Janardhan Shenoy; K Prashant Kini; Kishan B Shetty; K Anand Pai

doi:10.4103/ijhas.IJHAS_69_1

CASE REPORT

Year : 2018 | Volume : 7 | Issue : 2 | Page : 114-116

Primary hyperparathyroidism presenting as bilateral genu valgum

Sowmini P Kamath¹, Janardhan Shenoy¹, K Prashant Kini¹, Kishan B Shetty², K Anand Pai³
¹ Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Mangalore, Karnataka, India
² Department of Paediatric Surgery, Father Muller Medical College Hospital, Mangalore, Karnataka, India
³ Regional Advanced Paediatric Care Centre, Wenlock District Government Hospital, Mangalore, Karnataka, India

Date of Web Publication

2-May-2018

Correspondence Address:
Dr. Sowmini P Kamath
Department of Paediatrics, Kasturba Medical College, Light House Hill Road, Mangalore - 575 001, Karnataka
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/ijhas.IJHAS_69_1

Abstract

We present two children with bilateral knock-knee. Both of them had hypercalcemia, hypophosphatemia, raised alkaline phosphatase and parathormone, normal renal function, and deficient serum vitamin D levels. Sestamibi scintigraphy showed a parathyroid adenoma in both children, which was removed surgically with improvement. Primary hyperparathyroidism should be a differential diagnosis for bilateral genu valgum.

Keywords: Child, genu valgum, hypercalcemia, hyperparathyroidism, primary

How to cite this article:
Kamath SP, Shenoy J, Kini K P, Shetty KB, Pai K A. Primary hyperparathyroidism presenting as bilateral genu valgum. Int J Health Allied Sci 2018;7:114-6

How to cite this URL:
Kamath SP, Shenoy J, Kini K P, Shetty KB, Pai K A. Primary hyperparathyroidism presenting as bilateral genu valgum. Int J Health Allied Sci [serial online] 2018 [cited 2023 Mar 28];7:114-6. Available from: https://www.ijhas.in/text.asp?2018/7/2/114/231693

Introduction

Primary hyperparathyroidism (PHPT) is rare in children and results from excessive secretion of parathyroid hormone (PTH; 2–5/100,000),^[1],[2] usually due to a benign parathyroid adenoma in one of the parathyroid glands. A less common cause is multiple endocrine neoplasia.^[3],[4],[5] Delay in treatment may cause end-organ damage, life-threatening hypercalcemic crisis, irreversible mental impairment, and incapacitating permanent bone deformities.^[1],[2],[3] We report two cases of parathyroid adenoma presenting as bilateral genu valgum.

Case Report

Case 1 was an 11-year-old girl and Case 2 was a 12-year-old boy, both presenting with knock-knee of 1-year duration. Case 2 had already undergone bilateral distal femur and proximal tibia hemiepiphysiodesis for genu valgum at other hospital before arrival to us.

Nonspecific symptoms such as weakness, fatigue, anorexia, insignificant weight loss, episodic headache, fever, intermittent central abdominal pain, and nausea and vomiting were seen in Case 1. On examination, both the cases had short stature and bilateral genu valgum. There were no other features of rickets or other endocrinopathies in both the cases. Milestones were age appropriate and scholastic performance good. There was no significant family history. Both the cases had received calcium and Vitamin D supplementation. Late presentation of genu valgum and its persistence made us look for causes other than nutritional rickets. Laboratory investigations [Table 1] showed hypercalcemia, hypophosphatemia, elevated alkaline phosphatase, and elevated serum levels of intact PTH. Renal functions were normal and there was no hypercalciuria. Serum Vitamin D levels were deficient. Lumbosacral spine and bilateral leg radiograph showed diffuse osteopenia with bilateral genu valgum [Figure 1]. PHPT due to a parathyroid adenoma was considered. Technetium-99 m-hexakis 2-methoxy-2-isobutyl isonitrile sesta scintigraphy scan showed a left superior parathyroid adenoma [Figure 2] in both the cases. Nephrolithiasis was seen in Case 2. Band keratopathy was absent in both the cases.

Table 1: Patient characteristics

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Figure 1: X-ray of bilateral legs showing diffuse osteopenia with bilateral genu valgum deformity

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Figure 2: Subtraction scintigraphy with sestamibi revealing a left superior parathyroid adenoma

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Hypercalcemia (17.4 mg/dl) in Case 2 was managed with hydration, loop diuretics, and calcitonin with a reduction to 12 mg/dl before removal of parathyroid adenoma.

A Kocher incision was made, and subplatysmal flaps were raised. Thyroid gland was identified and dissection was continued along the thyroid capsule. The left superior parathyroid gland was identified on the posterior and lateral aspect of the thyroid. Recurrent laryngeal nerve and inferior thyroid artery were identified. The left superior parathyroid adenoma was removed surgically in both the cases. Postoperative biochemical normality was achieved. Serum PTH had reduced to normal. Calcium and Vitamin D3 supplements were continued for osteopenia. Case 1 required an orthopedic brace; corrective osteotomy of the bilateral genu valgum was planned at follow-up once her osteopenia improves.

Discussion

Childhood and adolescent hyperparathyroidism is rare,^{[2],[3],[6],[7]} usually resulting from a single benign adenoma and manifesting after 10 years of age. Many cases are asymptomatic with incidentally detected hypercalcemia.

Nonspecific nature of symptoms such as muscle weakness, fatigue, headache, anorexia, abdominal pain, nausea, vomiting, constipation, polydipsia, polyuria, weight loss, and fever impose difficulties in diagnosis.^[1],[5] Case 1 had most of these nonspecific symptoms except for polyuria, polydipsia, and constipation. Nephrocalcinosis and nephrolithiasis have been described as the most common presentation in long-standing hypercalcemia ^[4] and were seen in Case 2.^[4] Presentation as hypertension is rare ^[2],[8],[9] and was not present in both the cases.

Osteoporosis, osteopenia, and subperiosteal resorption are the most frequent osseous changes described. These osseous changes commonly cause pain in the back or extremities, leading to gait disturbances, fractures, and deformities such as genu valgum.^{[1],[2],[8],[9]} Both these cases had osteoporotic changes with bilateral genu valgum. Similar presentations of genu valgum ^[6],[7] along with neurological symptoms ^[3] or hypercalcemic crisis ^[1] have been described. In a retrospective review of 52 children by Kollars et al.,^[2] none had genu valgum at presentation. Nephrolithiasis was present in 17 (33%) cases.^[2] Mental retardation, convulsions, and blindness can occur, and psychiatric manifestations include depression, confusion, dementia, and stupor.

The gold standard for diagnosis of PHPT is assessment of parathormone levels and correlation with serum calcium levels. Parathyroidectomy is the mainstay of treatment. The presence of genu valgum indicated delayed diagnosis, highlighting diagnostic difficulty.

Conclusion

Parathyroid adenoma presenting with bilateral genu valgum is rare in children. The presence of hypercalcemia in the presence of deformities points to the diagnosis. Surgical excision of isolated parathyroid adenoma may prevent deformities.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Walczyk A, Szalecki M, Kowalska A. Primary hyperparathyroidism: A rare endocrinopathy in children. Two case reports. Endokrynol Pol 2011;62:346-50. [PUBMED]
2.	Kollars J, Zarroug AE, van Heerden J, Lteif A, Stavlo P, Suarez L, et al. Primary hyperparathyroidism in pediatric patients. Pediatrics 2005;115:974-80. [PUBMED]
3.	Lloyd HM, Aitken RE, Ferrier TM. Primary hyperparathyroidism resembling rickets of late onset. Br Med J 1965;2:853-6. [PUBMED]
4.	Jan MA, Falah SG. Clinical aspects of primary hyperparathyroidism. JPMI 2006;20:410-2.
5.	Doyle DA. Hyperparathyroidism. In: Kliegman RM, Stanton BF, St. Geme JW 3^rd, Schor NF, Behrman RE, editors. Nelson Textbook of Paediatrics. 19^th ed. Philadelphia: Elsevier Publishers; 2011. p. 1920-2.
6.	Menon PS, Madhavi N, Mukhopadhyaya S, Padhy AK, Bal CS, Sharma LK, et al. Primary hyperparathyroidism in a 14 year old girl presenting with bone deformities. J Paediatr Child Health 1994;30:441-3.
7.	Kauffmann C, Leroy B, Sinnassamy P, Carlioz H, Gruner M, Bensman A, et al. Arare cause of bone pain in children: Primary hyperparathyroidism caused by adenoma. Arch Fr Pediatr 1993;50:771-4.
8.	Lawson ML, Miller SF, Ellis G, Filler RM, Kooh SW. Primary hyperparathyroidism in a paediatric hospital. QJM 1996;89:921-32. [PUBMED]
9.	Mallet E; Working Group on Calcium Metabolism. Primary hyperparathyroidism in neonates and childhood. The French experience (1984-2004). Horm Res 2008;69:180-8. [PUBMED]