Rare case in Somalia: Fahr's syndrome

被引:0
|
作者
Adam, Aisha M. [1 ,5 ]
Sheikh, Omar A. [3 ]
Roble, Miski A. [1 ]
Yasar, Mehmet Z. [4 ]
Mohamed, Shukri S. [2 ]
Kassim, Mohamed M. [1 ]
机构
[1] Mogadishu Somali Turkey Recep Tayyip Erdogan Train, Dept Pediat, Mogadishu, Somalia
[2] Mogadishu Somali Turkey Recep Tayyip Erdogan Train, Dept Pediat Surg, Mogadishu, Somalia
[3] Somali Natl Univ, Fac Med, Dept Basic Med Sci, Mogadishu, Somalia
[4] Izmir Cigli Training & Res Hosp, Dept Pediat, Cigli, Turkiye
[5] Mogadishu Somali Turkey Recep Tayyip Erdogan Train, Digfer St, Mogadishu, Somalia
来源
ANNALS OF MEDICINE AND SURGERY | 2024年 / 86卷 / 02期
关键词
autosomal dominant; basal ganglia calcification; Fahr's syndrome; PATHOGENESIS;
D O I
10.1097/MS9.0000000000001586
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Introduction and importance: Fahr's syndrome is primarily familial, autosomal dominant, and genetically diverse. Basal ganglia calcification that is bilaterally symmetrical is a hallmark of this illness. Although the specific origins of this illness are unknown, it may be brought on by problems with calcium metabolism, infections, toxins, hereditary factors, hypoparathyroidism, and pseudohypoparathyroidism. The prevalence of this syndrome is less than 0.5%. Case presentation: An 11-year-old female comes to the Emergency Department with her parents complaining of high-grade fever and convulsions for 1 week. Convulsion, which is a generalized tonic-clonic seizure, duration was similar to 5 min and associated with urinary incontinence and biting tongue. On examination, the patient was confused and irritable. Vital signs were normal; there is weakness in the right arm and right leg, associated with irregular movement. There was alternation in her level of consciousness, slurring of speech, and psychiatric symptoms. Another aspect of the neurological examination and systems was normal, and there was no meningeal irritation. Clinical discussion: The pathogenesis of Fahr's syndrome is not completely known. The calcification is caused by flaws in the transport of radioactive particles and tissue damage caused by free radicals. Bilateral calcification found on a computed tomography (CT) scan of the brain, autosomal dominant inheritance, the absence of any infection, drugs, or toxins, the absence of mitochondrial dysfunction, and the presence of progressive neurological dysfunction is the clinical criteria for diagnosing Fahr's syndrome. Conclusion: Basal ganglia calcification that is bilaterally symmetrical is a hallmark of Fahr's syndrome. CT scans are the gold standard for conclusively diagnosing Fahr's syndrome.
引用
收藏
页码:1089 / 1091
页数:3
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