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Brain calcifications, previously known as Fahr's disease, is a rare neurological disorder marked by various clinical symptoms, including movement disorders, cognitive impairment, and psychiatric disturbances. Despite its clinical importance, its pathophysiology is unclear and there are no specific treatments. We present four cases of brain calcifications from our tertiary care center, with three female patients (75%) and an average age of 63 years. Our cohort featured both genetic and endocrine etiologies, including one primary familial brain calcification case with a c.852del frameshift mutation in the SLC20A2 gene, and two endocrinopathy-related cases. One patient had an acute stroke which may have been contributed by brain calcifications. Computerized tomography and magnetic resonance imaging scans revealed basal ganglia and dentate nucleus calcifications. Treatment involved physical and occupational therapy in all patients. Hypoparathyroidism-related brain calcifications were treated with oral supplementation with calcitriol, calcium, and vitamin D. Three patients showed improvement or stability of their symptoms. This case series underscores the diverse clinical presentations and etiologies of brain calcifications. The complex pathophysiology involves disrupted Ca+2-PO43- homeostasis, deficient cellular PO43- transport, and vascular irregularities in genetic etiologies. Future research should focus on identifying novel genetic mutations, understanding molecular pathways, and refining diagnostic techniques. Integrating multidisciplinary approaches may improve diagnosis, management, and prognosis for patients with this intricate neurological disorder.

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Fahr's disease is a rare hereditary neurological disorder characterized by idiopathic basal ganglia and cerebral cortex calcifications. It presents a wide range of neurological manifestations, including motor dysfunction, sensory deficits, seizures, headaches, visual disturbances, and movement disorders. We present a case report of a 42-year-old female who presented to the accident and emergency department with a stroke alert. Her main symptom was left facial numbness. Otherwise, she was fit and well. A CT scan of her head revealed significant bilateral basal ganglia calcifications rather than ischaemic or haemorrhagic changes. Blood tests showed normal serum calcium, normal phosphate, and normal parathyroid hormone levels. Upon further inquiry, she mentioned that her sister had been diagnosed with similar findings on a brain scan. Subsequently, an MRI scan of her brain was performed, which suggested Fahr's disease. Currently, there is no definitive management available, so a conservative management approach is usually employed based on symptomatology. This case is particularly interesting due to its rarity, strong genetic inheritance, and the development of a management plan.

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Fahr's syndrome is a rare neurodegenerative disorder characterized by symmetric bilateral calcifications in the basal ganglia. While this is largely a hereditary disease with autosomal dominant inheritance, a small percentage is sporadic in nature with no metabolic or other underlying causes identified. Fahr's syndrome has both neurological and psychiatric manifestations that include movement abnormalities, seizures, psychosis, and depression. Approximately 40% of patients with basal ganglia calcification present with psychiatric symptoms including mania, apathy, or psychosis. We present a case of a 50-year-old woman with no previous medical or psychiatric history who presented with an altered mental status that progressed to psychosis over three years. On one admission, the patient was found to have elevated liver enzymes and a positive antinuclear antibody panel but was without electrolyte abnormalities or movement disturbances. The patient was subsequently diagnosed with unspecified psychosis in the emergency department, which was later revised to Fahr's syndrome confirmed by neuroimaging. This report discusses her presentation, clinical symptoms, and management of Fahr's syndrome. Above all, it underscores the importance of complete workup and adequate follow-up of middle-aged and elderly patients with cognitive and behavioral disturbances, as Fahr's syndrome can be elusive in the early stages.

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Fahr's disease is a rare clinical neurodegenerative entity, occurring mainly in 4th or 5th decade, showing gradually progressive bilateral symmetric calcifications in basal ganglia, subcortical white matter, thalami or cerebellum, which can lead to movement disorder and/or neuropsychiatric manifestations. We present two cases in the same family; a 68-year-old brother had involuntary jerky movements of hand and dysarthria for 10 years while the 44-year-old sister had right lower limb spasticity and decreased vision for 2 years. The serial MRI scans showed slow progression in the bilateral subcortical white matter and cerebellar dentate nuclei calcifications along with surrounding reactive gliosis.

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Neurological symptoms in COVID-19 patients have attracted the interest of the scientific community, yet their mechanisms remain unknown. In some circumstances, the presence of neurological manifestations may result in an incidental diagnosis after a detailed investigation. In the present letter, we discuss a case published by Demir et al., in which the diagnosis of COVID-19 enabled the diagnosis of a rare neurological disorder, characterized by bilateral brain calcifications, commonly known by the eponym Fahr's syndrome. In addition, we report a case of primary brain calcifications unveiled by a suspected coronavirus infection.

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Fahr syndrome is a rare condition mainly characterized by symmetric and bilateral calcification of basal ganglia and cerebellar nuclei. Herein, we report a case of a 67-year-old woman with a history of parathyroidectomy and Parkinsonism, who was admitted to hospital with suspected neuroinfection, and imaging features that were consistent with Fahr syndrome. The objective of this study is to teach clinicians about a neurologic illness that requires comprehensive medical and neurologic investigation due to the manifestations of lymphocytic meningitis might distract you from Fahr syndrome symptoms.

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INTRODUCTION: Fahr's syndrome due to hypoparathyroidism refers to bilateral basal ganglia (BG) calcifications and manifests with movement disorders, seizures, cognitive and behavioral symptoms. CASE PRESENTATION: We report a case of a 74-year-old woman, who presented with parkinsonism due to post-surgical hypoparathyroidism and normal DaT scan, despite extensive calcifications of the BG, periventricular white matter, and cerebellum. METHODS: A comprehensive literature review of all reported cases of Fahr's syndrome due to hypoparathyroidism was conducted in the electronic databases PubMed and Web of science. Moreover, demographic and clinical characteristics of the patients overall were calculated and associated with radiological findings. RESULTS: We reviewed a total of 223 cases with Fahr's syndrome due to hypoparathyroidism (124 female, 99 male). Mean age on presentation was 44.6 ± 17.7 years. Thirty nine percent of patients had idiopathic hypoparathyroidism, 35.4 % acquired and 25.6 % pseudohypoparathyroidism. Almost half of the patients had tetany, seizures or a movement disorder and approximately 40 % neuropsychiatric symptoms. The patients with a movement disorder had a 2.23 likelihood of having neuropsychiatric symptoms as well (OR 2.23, 95 % CI 1.29-3.87). Moreover, there was a statistically significant association between the phenotype severity (i.e. the presence of more than one symptom) and the extent of brain calcifications (χ2 = 32.383, p = 0.009). CONCLUSION: Fahr's syndrome is a rare disorder, which nonetheless manifests with several neurological symptoms. A head CT should be considered for patients with hypoparathyroidism and neurological symptoms. More studies using DaT scan are needed to elucidate the effects of calcifications on the dopaminergic function of the BG.

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OBJECTIVE: Permanent hypoparathyroidism is an uncommon disease resulting most frequently from neck surgery. It has been associated with visceral calcifications but few studies have specifically this in patients with post-surgical hypoparathyroidism. The aim of the present study was to assess the prevalence of basal ganglia and carotid artery calcifications in patients with long-term post-thyroidectomy hypoparathyroidism compared with a control population. DESIGN: Case-control study. METHODS: A cross-sectional review comparing 29 consecutive patients with permanent postoperative hypoparathyroidism followed-up in a tertiary reference unit for Endocrine Surgery with a contemporary control group of 501 patients who had an emergency brain CT scan. Clinical variables and prevalence of basal ganglia and carotid artery calcifications were recorded. RESULTS: From a cohort of 46 patients diagnosed with permanent hypoparathyroidism, 29 were included in the study. The mean duration of disease was 9.2 ± 7 years. Age, diabetes, hypertension, smoking and dyslipidemia were similarly distributed in case and control groups. The prevalence of carotid artery and basal ganglia calcifications was 4 and 20 times more frequent in patients with permanent hypoparathyroidism, respectively. After propensity score matching of the 28 the female patients, 68 controls were matched for age and presence of cardiovascular factors. Cases showed a four-fold prevalence of basal ganglia calcifications, whereas that of carotid calcifications was similar between cases and controls. CONCLUSION: A high prevalence of basal ganglia calcifications was observed in patients with post-surgical permanent hypoparathyroidism. It remains unclear whether carotid artery calcification may also be increased.

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BACKGROUND: Primary hypoparathyroidism is associated with diverse variety of symptomatology of hypocalcemia including seizures and tetany. We report a case of previously undiagnosed asymptomatic primary hypoparathyroidism with extensive basal ganglia calcifications presenting for the first time with hypocalcemic tetany during acute dengue infection. Although hypocalcemia is known to occur in dengue infection symptomatic hypocalcemia is very infrequent. CASE PRESENTATION: A 32 year old male with short stature who has undergone bilateral cataract surgery 2 years ago but who was otherwise healthy, presented with fever and generalized body aches of 3 days duration and carpal spasms/tetany occurring on the third day of the illness. He was diagnosed to have acute dengue fever along with severe hypocalcemia. Subsequent workup confirmed that the patient had primary hypoparathyroidism with extensive basal ganglia and cerebellar calcifications which was previously undiagnosed. His acute illness and hypocalcemia was managed successfully and was commenced on regular calcium supplementations to alleviate the hypocalcemic effects of his chronic illness. CONCLUSION: Clinical features of hypocalcemia may not commonly manifest up to the same degree of severity of hypocalcemia in primary hypoparathyroidism even till late adulthood but potential early clues such as short stature and premature cataract should be actively investigated. Worsening of already existing hypocalcemia during acute dengue fever led to the ultimate diagnosis of primary hypoparathyroidism in this patient which was lifesaving.

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BACKGROUND/PURPOSE: Intracranial calcifications have been identified in many neurological disorders. To our knowledge, however, such findings have not been described in cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders (CHH-AD), a group of conditions characterized by a wide spectrum of clinical manifestations. METHODS/RESULTS: We report a 22-year old female patient, diagnosed with this disorder during her first year of life, and in whom bilateral intracranial calcifications (frontal lobes, basal ganglia, cerebellar dentate nuclei) were discovered by brain MRI at the age of 17 years. CONCLUSION: The etiology of this finding remains unclear. Some causes of such deposits can be of a reversible nature, thus prompting early recognition although their consequences on clinical outcome remain mostly unknown.

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Las calcificaciones cerebrales agrupan diversas entidades patológicas que frecuentemente han sido referidas como enfermedad de Fahr. Estas tienen una presentación clínica variada, desde el curso subclínico hasta manifestaciones motoras convulsivas e inclusive demenciales. Se presenta el caso de una mujer de 46 años con una crisis epiléptica convulsiva generalizada, asociada a calcificaciones difusas por hipoparatiroidismo postquirúrgico, en quien se inicia reposición de calcio, logrando resolución del cuadro convulsivo. Este reporte destaca el abordaje fisiopatológico de las calcificaciones cerebrales por hipoparatiroidismo, la importancia de una definición más general de cómo sería el síndrome de calcificación cerebral teniendo en cuenta las diferentes entidades patológicas conocidas asociadas con diferente espectro clínico y, por último, pone en evidencia la carencia de investigaciones sobre el tema.

Brain calcifications group diverse pathological entities that have often been referred to as Fahr disease. These have a clinical presentation which varies from subclinical course to several motor manifestations and dementia. We report the case of a 46 year old woman with generalized seizures associated with diffuse calcifications on postoperative hypoparathyroidism in whom calcium supplementation starts achieving resolution of the symptoms. This report highlights the pathophysiological approach by hypoparathyroidism brain calcifications, the importance of a general definition as in the brain calcification syndrome considering different known disease entities associated with different clinical spectrum and, finally, demonstrates the lack of research on the subject.