Solving a diagnostic dilemma in a patient with periodic fever—When the pieces of the puzzle finally fit

Abstract

Key Clinical Message The lack of pediatric subspecialists locally prior to 5 years ago, meant that some of our patients with rare, relapsing conditions were left behind. Familial Mediterranean fever can be diagnosed clinically and supported via genetic panel studies. Although neurological symptoms can be non‐specific, this system symptomatology may lead patients and carers to seek medical attention. When neurological symptoms progress, seemingly refractory to first‐line treatment, or suggestive of colchicine resistance, CNS demyelination should be considered by the neurologist. Abstract Familial Mediterranean fever (FMF) is an inherited disorder with episodic fevers accompanied by pain in the abdomen, joints, or chest. It is a clinical entity that can be confirmed with a specific genetic mutation. Neurological symptoms have not been a focal point in clinical case descriptions. We aim to present the long road to diagnosing our patient, where the diagnostic clues centered around her neurological symptoms.

Keywords

• erysipelas‐like erythema
• familial Mediterranean fever
• MEFV
• MS overlap
• periodic fever