Work

A Rare Familial Case of Pseudohypoparathyroidism Type 1b in Two Brothers Presenting With Recurrent Leg Cramps and Learning Difficulties

Year: 2025

Type: article

Abstract: We present a rare familial case of two brothers presenting with late-onset symptoms of posturing, cramps, and occasional falls. The brothers, who were initially under the pediatric team being investigated for rare thiamine-transporter-related genetic disorders, had significant symptomatic hypocalcemia and cerebral calcifications identified on brain imaging. They were both diagnosed with pseudohypoparathyroidism type 1b in their late teenage years and achieved stable calcium levels and symptom control after treatment titration. This case highlights the importance of identifying key hypocalcemia symptoms such as fatigue, muscle cramps, and paresthesia, which may have led to earlier recognition of the condition.

Source: Cureus

DOI: 10.7759/cureus.99606