Niksolat Maryam, Mokhtari Mahisa, Kamalzadeh Leila, Nabi Somaye
Geriatric Mental Health Research Center, Department of Geriatric Medicine, School of Medicine, Iran University of Medical Science, Tehran, Iran.
Department of Neurology, School of Medicine, Firoozabadi Clinical and Research Development Unit, Iran University of Medical Science, Tehran, Iran.
Neurocase. 2024 Feb;30(1):48-53. doi: 10.1080/13554794.2024.2353392. Epub 2024 May 17.
Fahr's disease is a rare neurodegenerative disorder with brain calcifications and neuropsychiatric symptoms. It can have variable phenotypic expression and intermittent symptomatology, making diagnosis challenging. In this report, we describe a young female patient presenting with symptoms of psychosis and confusion, which could be indicative of a delirium superimposed on the cerebral vulnerability associated with Fahr's disease. Notably, about two years prior, she experienced multiple episodes of tonic-clonic seizures that spontaneously resolved without pharmacological intervention. She had no previous psychiatric history. Following comprehensive investigations, other organic causes were ruled out, and Fahr's disease was diagnosed based on bilateral symmetrical brain calcifications seen on a head CT scan. Her treatment regimen encompassed antipsychotics and anticonvulsants. This case highlights the importance of considering Fahr's disease as a differential diagnosis in patients with new-onset neuropsychiatric symptoms. The case also explores the atypical early onset and intermittent nature of symptoms in the absence of a positive family history, highlighting the complexity of Fahr's disease. A multidisciplinary approach and regular follow-up are crucial for optimizing patient care and monitoring disease progression. Further research is needed to enhance our understanding of Fahr's disease and develop standardized treatment strategies for this rare condition.
Fahr病是一种罕见的神经退行性疾病,伴有脑钙化和神经精神症状。它可具有可变的表型表达和间歇性症状,这使得诊断具有挑战性。在本报告中,我们描述了一名年轻女性患者,她出现了精神病和意识模糊症状,这可能表明存在叠加于与Fahr病相关的脑易损性之上的谵妄。值得注意的是,大约两年前,她经历了多次强直阵挛发作,这些发作未经药物干预自行缓解。她既往无精神病史。经过全面检查,排除了其他器质性病因,并根据头部CT扫描显示的双侧对称性脑钙化诊断为Fahr病。她的治疗方案包括使用抗精神病药物和抗惊厥药物。该病例强调了在新发神经精神症状患者中考虑Fahr病作为鉴别诊断的重要性。该病例还探讨了在无阳性家族史情况下症状的非典型早发和间歇性特点,突出了Fahr病的复杂性。多学科方法和定期随访对于优化患者护理和监测疾病进展至关重要。需要进一步研究以加深我们对Fahr病的理解,并为这种罕见疾病制定标准化治疗策略。