ArticleCureus2025
A Rare Familial Case of Pseudohypoparathyroidism Type 1b in Two Brothers Presenting With Recurrent Leg Cramps and Learning Difficulties.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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7 authors.
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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.
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