Case report: recurrent abdominal symptoms in a child with panhypopituitarism – there is always a differential
| Autor: | Markus Vogel, Laura Olbrich, Eva M. Schmidt, Ertan Mayatepek |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
medicine.medical_specialty
Pediatrics Familial Mediterranean fever Case Report Delayed diagnosis 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine 030225 pediatrics Adrenal insufficiency medicine Colchicine Family history 030203 arthritis & rheumatology business.industry Recurrent abdominal pain Aplasia medicine.disease Surgery Molecular analysis chemistry Abdominal symptoms Panhypopituitarism business |
| Zdroj: | International Journal of Pediatric Endocrinology |
| ISSN: | 1687-9856 1687-9848 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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