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

## TL;DR

Two brothers with a rare condition called pseudohypoparathyroidism type 1b showed symptoms like leg cramps and learning issues, which were managed with proper treatment.

## Contribution

The paper presents a rare familial case emphasizing the importance of recognizing hypocalcemia symptoms for early diagnosis.

## Key findings

- Two brothers were diagnosed with pseudohypoparathyroidism type 1b in their late teenage years.
- Symptoms included hypocalcemia, cerebral calcifications, and posturing, which improved with treatment.
- Early recognition of hypocalcemia symptoms could lead to timely diagnosis and management.

## 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.