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.