Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.

ABSTRACT: Neonatal hyperparathyroidism is a rare disease caused by a homozygous inactivating mutation in the calcium sensing receptor gene. It presents early in life with life threatening manifestations of hypercalcemia, if left untreated the condition may be lethal. This is the first case series reported from Sudan. Three Sudanese siblings presented with severe symptoms of hypercalcemia in the form of polyuria, failure to thrive and multiple bone fractures. Serum calcium and parathyroid hormone levels were very high with low phosphate and normal alkaline phosphatase levels. Ultrasonography and sestamibi scan were normal and did not assist in diagnosing their condition. Medical management was a great challenge due to unavailability of medications such as parentral bisphosphonates and calcimimetics.

SUBMITTER: Hassan SS 

PROVIDER: S-EPMC8627147 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature