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

Autor: Shukla V; Paediatric Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago., Sarabjit Singh VRS; Faculty of Medicine, Child Health Unit University of the West Indies St Augustine Trinidad and Tobago., Ranghell C; Paediatric Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago., Ramgoolam C; Paediatric Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago., Solomon NS; Paediatric Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago., Ramcharitar-Maharaj V; Paediatric Emergency Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago., Persad C; Adult Medicine Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago., Davis-King K; Adult Medicine Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2024 Jul 31; Vol. 12 (8), pp. e8973. Date of Electronic Publication: 2024 Jul 31 (Print Publication: 2024).
DOI: 10.1002/ccr3.8973
Abstrakt: 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.
Competing Interests: None.
(© 2024 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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