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Endocrinology
Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B
  1. Anne-Marie Van der Biest1,2,
  2. Harald Jüppner3,
  3. Corina Andreescu1 and
  4. Bert Bravenboer1
  1. 1Endocrinology, UZ Brussel, Brussel, Belgium
  2. 2Endocrinology, AZ Glorieux, Ronse, Belgium
  3. 3Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
  1. Correspondence to Dr Anne-Marie Van der Biest; annemarie.vanderbiest{at}gmail.com

Abstract

Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterised by a non-functioning PTH. Usually, the diagnosis is made following (symptomatic) hypocalcaemia. We describe a case in which epileptic seizures and abnormalities in dental development were the main clinical manifestation of PHP type 1B. This case demonstrates the importance of screening for hypocalcaemia in patients with de novo epileptic seizures. In addition, antiepileptic medications themselves may interfere with calcium-phosphate metabolism, causing or aggravating a hypocalcaemia as well. By correcting the calcium level, a resolution of these symptoms could be obtained.

  • Calcium and bone
  • Genetic screening / counselling
  • Epilepsy and seizures

https://doi.org/10.1136/bcr-2023-258403

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    Footnotes

    • Contributors All authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content. All authors gave final approval of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.