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Case report: recurrent abdominal symptoms in a child with panhypopituitarism - there is always a differential
Laura Olbrich1, Eva Schmidt2, Ertan Mayatepek1
1Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany.
Insights
A child with panhypopituitarism experienced delayed diagnosis of familial Mediterranean fever (FMF). Early diagnosis of FMF is crucial to prevent complications from amyloidosis.
Area of Science:
- Pediatric Endocrinology
- Genetics and Rare Diseases
Background:
- Adenohypophysis aplasia and ectopic neurohypophysis can lead to panhypopituitarism.
- Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
Observation:
- A 6-year-old boy presented with panhypopituitarism and recurrent episodes suggestive of infection.
- Signs of adrenal insufficiency were noted.
- Familial Mediterranean Fever (FMF) was clinically suspected at age 6 and confirmed molecularly.
Findings:
- Clinical presentation of panhypopituitarism and FMF can overlap.
- Detailed patient and family history is essential for accurate diagnosis.
Implications:
- Early diagnosis of FMF is critical for timely colchicine treatment.
- Prompt treatment prevents long-term complications, including amyloid fibril deposition.
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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