Fahr’s Syndrome presenting with epileptic seizure, two case reports (original) (raw)

“Fahr’s disease” a very rare cause of Epilepsy

Fahr’s disease, first described by Karl Theodor Fahr in 1930, refers to sporadic or familial idiopathic basal ganglia calcification that is associated with many neurological and psychiatric abnormalities, but may be secondary to other diseases. Most cases present with extrapyramidal symptoms. But we describe a case of Fahr’s disease, who presented with complex partial seizure and behavioral abnormalities. On screening the cause of seizure, we have found bilateral calcifications of cerebellum, basal ganglia and thalamus, due to abnormal calcium and phosphate metabolism. Making a clinical diagnosis of complex-partial seizure with secondary generalization due to secondary Fahr’s disease was done on the combination of clinical features, investigations, and exclusion of other causes of intracranial calcification.

Fahr Disease with Seizure as Clinical Manifestation: A Case Series

International Journal of Research Publications, 2021

Brain calcification can occur physiologically and pathologically. Physiological calcification is associated with a degenerative process with globus pallidus as the most common location. Pathological calcifications are associated with several causes such as idiopathic or secondary due to disturbances in mineral metabolism in the body. Fahr disease is a syndrome characterized by calcium and phosphate deposition in several areas, namely the periventricular area, cerebellum and dentate nucleus. Fahr disease is a rare disease with an incidence of <1:100,000 in the general population. In this case report, we describe 2 cases Fahr's disease both in 6 th decade of age. Both of these cases present with a clinical manifestation of seizures. The etiology behind the first case is hypoparathyroid post-thyroidectomy while the second case is idiopathic. Imaging showed bilateral calcifications of the basal ganglia and other areas such as the cerebellum and ventricles.

A rare case of Fahr's disease presenting as epileptic seizure in the emergency department

Fahr's disease (striato-pallido-dentate calcifications) is a rare neurodegenerative disorder characterised by bihemispherical and symmetrical calcium deposits in certain areas of the brain, particularly in the basal ganglia. We report an unusual case of Fahr's disease in a 36-year-old man who presented with generalised seizure in our emergency department. Basing on clinical, radiological, and endocrinological aspects, the patient was diagnosed as Fahr's disease associated with hypoparathyroidism. Administration of parenteral calcium and calcitriol supplementation were started in the emergency department. The clinical outcome was favourable after the treatment. The case illustrates that Fahr's disease, though rarely seen, has to be considered in a patient with convulsive state associated with calcifications of the basal ganglia. Systematically searching for dysparathyroidism in such patients is extremely important. (Hong Kong j.emerg.med.

Fahr's syndrome with seizure presentation

Fahr's disease (FD) or Fahr's syndrome is characterized by basal ganglia calcification with clinical manifestations in the form of neuropsychiatric disorders, neurological symptoms, and cognitive symptoms. FD commonly affects young to middle aged adults. The etiology of this syndrome does not identify a specific agent. Clinical manifestations of this disease incorporate a wide variety of symptoms. The diagnostic criteria of Fahr's Syndrome consist of bilateral calcification of basal ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, infectious, traumatic, and a significant family history. Medical imaging techniques for the diagnosis consist of computed tomography (CT), magnetic resonance imaging (MRI), and plain radiography of the skull. This paper presents a case of Fahr's syndrome in a 60-year-old married prisoner with antisocial personality and seizures. Furthermore, CT and MRI scans showed bilateral symmetric calcifications in the basal ganglia calcification (BGC) and dentate nuclei, cerebellum, and centrum semiovale.

Fahr’s Syndrome: A Rare Etiology of Seizure Disorder

2022

Fahr’s syndrome is a rare and unremitting neuropsychiatric condition often ranging in symptoms from headache, seizure, chorea, dementia to mania, depression and schizophrenia. CT finding which plays a vital role in diagnosis is suggestive of calcification in the bilateral basal ganglia, cerebral cortex areas, thalamus, dentate nucleus, cerebellum, subcortical white matter, and hippocampus. We are reporting a rare case of a 27 year old gentleman with seizure disorder who was diagnosed with Fahr’s syndrome after

Status Epilepticus as Presenting Symptom of Fahr’s Disease

Journal of Case Reports, 2019

Background: Fahr syndrome is a rare neuro-degenerative disorder characterized by symmetrical, bilateral calcifications in the basal ganglia, nucleus gyrus and cerebral cortex. It leads to cell loss in areas controlling movement and has build up of calcium concretions in the brain that can trigger epilepsy. Such intra-cranial calcifications are often but not always associated with chronic hypoparathyroidism and can have thyroid dysfunction too. Case Report: We present a case of 14 year old female presenting in status epilepticus previously been diagnosed as epilepsy, compliant with treatment for same since one year. Computed tomography head revealed diffuse cerebral calcifications in dentate nucleus with striato-pallidium calcifications. She was treated with intravenous calcium and antiepileptics and made remarkable recovery. Conclusion: This case highlights a unique and rare presentation of Fahr syndrome presenting with status epilepticus which subsided with treatment with intravenous calcium and antiepileptics

Fahr’s Syndrome Presenting With Hypocalcemia and Psychotic Features

Cureus, 2021

Fahr's disease is a rare genetic neurodegenerative disorder described as "bilateral striopallidodentate calcinosis" (BSPDC). It is characterized by calcium deposition crossing the blood-brain barrier and calcifying different brain areas. Here, we report a case of a 26-year-old Saudi young lady, known as a case of epilepsy since childhood, a major depressive disorder with psychotic features, and hypocalcemia related to hypoparathyroidism. CT brain showed extensive coarse calcifications involving the infra and supratentorial white matter, predominantly within the basal ganglia, thalami, and dentate nuclei of cerebellar hemispheres. This report will discuss the challenging presentation, clinical symptoms, and the multidisciplinary approach to manage Fahr's syndrome symptoms. In conclusion, this case emphasizes the importance of neuroimaging and metabolic workup when investigating the seizure's etiology. The goal of treatment in Fahr's syndrome is to manage the underlying conditions.

Fahr’s syndrome and clinical correlation: a case series and literature review

Folia Neuropathologica, 2016

Introduction: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging. Case reports: Three adults of aged 32, 55 and 70, were studied. They all showed a heterogeneous clinical spectrum. One case developed neuropsychiatric symptoms, whereas the others complained of the tremorigen syndrome. Brain computed tomography scans revealed several calcifications in basal ganglia, cerebellar white matter and dentate nuclei. Conclusions: The pathogenesis of Fahr's disease is probably secondary to the dysfunction of cortico-basal connections and their interhemispheric relations. No significant correlation between calcifications and neurological symptoms is proved.

Fahr syndrome, rare cause of neuropsychiatric manifestations in children: A two cases report

World Journal of Advanced Research and Reviews, 2021

Fahr syndrome is a rare anatomo-clinical entity in pediatrics. Associating calcifications of the basal ganglia with phospho-calcium metabolism disorders, most often resulting in neuropsychiatric symptoms. In our study, the discovery of this syndrome in our two patients was fortuitous thanks to the typical radiological appearance, associated with the clinical picture they initially presented, hence the interest of brain imaging in the diagnosis of this syndrome.