Shukla Vanita, Sarabjit Singh Virendra R S, Ranghell Cara, Ramgoolam Celine, Solomon Nicole S, Ramcharitar-Maharaj Vidya, Persad Christophe, Davis-King Keisha
Paediatric Department Eric Williams Medical Sciences Complex, NCRHA Champ Fleurs Trinidad and Tobago.
Faculty of Medicine, Child Health Unit University of the West Indies St Augustine Trinidad and Tobago.
Clin Case Rep. 2024 Jul 31;12(8):e8973. doi: 10.1002/ccr3.8973. eCollection 2024 Aug.
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.
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.
5年前本地缺乏儿科专科医生，这意味着我们的一些患有罕见复发性疾病的患者被忽视了。家族性地中海热可通过临床诊断，并通过基因检测研究得到支持。虽然神经症状可能不具有特异性，但这种系统性症状可能会促使患者及其护理人员寻求医疗帮助。当神经症状进展，对一线治疗似乎无效，或提示对秋水仙碱耐药时，神经科医生应考虑中枢神经系统脱髓鞘病变。
家族性地中海热（FMF）是一种遗传性疾病，伴有间歇性发热，并伴有腹部、关节或胸部疼痛。它是一种可通过特定基因突变确诊的临床病症。神经症状在临床病例描述中并非重点。我们旨在介绍诊断我们这位患者的漫长过程，其中诊断线索围绕着她的神经症状。
