A Case Report of Hyperphosphatasia Treated with Pamidronate

Document Type : Case Report

Authors

1 Department of Pediatrics, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Department of Clinical Biochemistry, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Abstract

Background: Hereditary hyperphosphatasia is a congenital and rare disease with high bone turn over. The disease is defined with extremely elevated alkaline phosphatase levels. Neonates with hyperphosphatasia are normal at birth but develop progressive long bone deformities, fracture, vertebral collapse, skull enlargement due to massively thickened calvarium, and deafness.
Case Presentation: Here, we described a male patient with progressive deformity in limbs and pain during walking that onset of symptoms was from age of two. The patient admitted to the Shahid Sadoughi Hospital, Yazd, was born from a non-consanguineous marriage. He was treated with pamidronate until halt of the disease progression and followed up for 18 months.
Conclusion: Bisphosphonate is the treatment of choice for hyperphosphatasia because it can normalize bone turnover, improve growth rates, and skeletal quality.

Keywords


1. Chosich N, Long F, Wong R, Topliss DJ, Stockigt JR. Post-partum hypercalcemia in hereditary hyperphosphatasia (juvenile Paget's disease). J Endocrinol Invest 1991; 14(7): 591-7.
2. Kumar SRR, Bagalad BS, Manohar CB, Kuberappa PH. Intermediate type of juvenile paget's disease: a rare case in Indian population. Contemp Clin Dent 2017; 8(1): 175-8.
3. Krakow D. Skeletal dysplasias. Clin Perinatol 2015; 42(2): 301-19.
4. Polyzos SA, Cundy T, Mantzoros CS. Juvenile Paget disease. Metabolism. 2018; 80: 15-26.
5. Gonc EN, Ozon A, Buyukyilmaz G, Alikasifoglu A, Simsek OP, Kandemir N. Acquired resistance to pamidronate treated effectively with zoledronate in juvenile Paget's disease. Osteoporos Int 2018; 29(6): 1471-4.
6. Roth K, Sarafoglou K, HoffmannG. Pediatric endocrinology and inborn errors of metabolism. 2nd ed. New York, NY: McGraw-Hill Education; 2017.
7. Behrman RE, Kliegman R, Nelson WE. Nelson textbook of pediatrics. Amsterdam, Netherlands: Elsevier; 2015.
8. Sreejan CK, Gopakumar N, Subhas Babu G. Chronic idiopathic hyperphosphatasia with unusual dental findings - A case report. J Clin Exp Dent 2012; 4(5): e313-e316.