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Published in: International Journal of Pediatric Endocrinology 1/2016

Open Access 01-12-2016 | Case report

Case report: recurrent abdominal symptoms in a child with panhypopituitarism – there is always a differential

Authors: Laura Olbrich, Eva Schmidt, Ertan Mayatepek, Markus Vogel

Published in: International Journal of Pediatric Endocrinology | Issue 1/2016

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Abstract

Background

We report the case of a 6 year old boy suffering from adenohypophysis aplasia as well as ectopic neurohypophysis and delayed diagnosis of familial Mediterranean fever (FMF).

Case presentation

The boy was diagnosed with panhypopituitarism during the neonatal period and suffered from recurrent episodes during the following years suggesting infections. He also showed signs of adrenal insufficiency. Finally, at the age of 6 years, an additional diagnosis of familial Mediterranean fever (FMF) was clinically suspected and later confirmed by molecular analysis.

Conclusion

The clinical pictures of panhypopituitarism and FMF can be overlapping. It is imperative to take a detailed and accurate history in order to find the right diagnosis, particularly a precise family history. In conditions like FMF an early diagnosis is crucial, as initiation of treatment with colchicine is important to prevent long-term complications due to amyloid fibril deposition.
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Metadata
Title
Case report: recurrent abdominal symptoms in a child with panhypopituitarism – there is always a differential
Authors
Laura Olbrich
Eva Schmidt
Ertan Mayatepek
Markus Vogel
Publication date
01-12-2016
Publisher
BioMed Central
Published in
International Journal of Pediatric Endocrinology / Issue 1/2016
Electronic ISSN: 1687-9856
DOI
https://doi.org/10.1186/s13633-016-0037-3

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