RESUMEN
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.
RESUMEN
Relapsing polychondritis (RP) is a rare autoimmune disease that can present with various clinical manifestations. Among the affected sites, the ear, nose, and throat cartilages are frequently involved, often leading to subtle and episodic symptoms that can be challenging to diagnose. A high index of suspicion is necessary for the early identification of these subtle signs, which can aid in early diagnosis and prompt management. In this report, we present a rare case of pediatric-onset relapsing polychondritis that was initially misdiagnosed as laryngotracheobronchitis.