Scintigraphy Negative Ultrasound positive parathyroid adenoma in familial hypocalciuric hypercalcemia

Authors

  • Sumaiya Alam Medical Officer, National Institute of Nuclear Medicine & Allied Sciences (NINMAS)
  • Md Rasedul Hasan Bulbul MS Resident, Department of Otolaryngology- Head & Neck Surgery, BSMMU
  • Saleha Sultana MD Resident, NINMAS
  • Faria Jisan MD Resident, NINMAS
  • Urnas Islam Senior Medical Officer, NINMAS
  • Sharmin Reza Principal Medical Officer, NINMAS
  • Rahima Perveen Senior Medical Officer, NINMAS
  • Nasreen Sultana Chief Medical Officer, NINMAS
  • Zeenat Jabin Director, Institute of Nuclear Medicine and allied Sciences (INMAS), ShSMCH, NINMAS
  • Sadia Sultana Director, NINMAS

DOI:

https://doi.org/10.3329/bjnm.v26i1.64669

Keywords:

Hypercalcemia, Primary hyperparathyroidism, Familial hypocalciuric hypocalcemia

Abstract

Familial hypocalciuric hypercalcemia (FHH) is a rare, lifelong, benign condition with an autosomal dominant pattern of inheritance. FHH is clinically distinguished by mild to moderate PTH-dependent hypercalcemia and normal to significantly reduced urinary calcium excretion despite elevated serum calcium. FHH is usually caused by a heterozygous loss-of-function mutation in the calcium-sensing receptor gene (CASR). It should be differentiated from primary hyperparathyroidism (PHPT). The reported case of a 10-year-old girl presented with symptomatic hypercalcemia, elevated intact parathyroid hormone, and a vitamin D deficiency. 99mTc-Sestamibi scan failed to detect any abnormalities, but high-resolution ultrasound (HRUS) of the neck revealed a right inferior parathyroid adenoma, which was excised with a focused parathyroidectomy. Although the patient’s calcium and iPTH levels normalized initially, they started rising within a few days.

Bangladesh J. Nuclear Med. 26(1): 62-65, 2023  

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Published

2023-01-31

How to Cite

Alam, S. ., Bulbul, M. R. H. ., Sultana, S. ., Jisan, F. ., Islam, U. ., Reza, S. ., Perveen, R. ., Sultana, N. ., Jabin, Z. ., & Sultana, S. . (2023). Scintigraphy Negative Ultrasound positive parathyroid adenoma in familial hypocalciuric hypercalcemia . Bangladesh Journal of Nuclear Medicine, 26(1), 62–65. https://doi.org/10.3329/bjnm.v26i1.64669

Issue

Section

Case Reports