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Basal Ganglia Calcification: A Case Report of Two Siblings With Fahr's Disease
Margarida Magalhães1, Margarida Alves1, Luís Paulino Ferreira1,2
1Department of Psychiatry and Mental Health, Setúbal Hospital Centre, Setúbal, PRT.
Insights
Fahr's disease, a rare neurodegenerative condition, involves intracranial calcifications. This study shows psychotropic drugs can effectively manage psychiatric symptoms in affected siblings.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Fahr's disease is a rare neurodegenerative disorder characterized by intracranial calcifications.
- It typically follows autosomal dominant inheritance with genetic heterogeneity.
- Clinical manifestations include movement, cognitive, and psychiatric disorders.
Observation:
- Two male siblings presented with psychiatric symptoms as the initial manifestation of Fahr's disease.
- Brain CT scans revealed bilateral basal ganglia calcifications without an identifiable cause.
- No underlying cause for the calcifications was identified.
Findings:
- Psychiatric symptoms and behavioral changes in both siblings showed remission.
- Treatment with psychotropic medications was effective in managing the observed symptoms.
Implications:
- This case series highlights the potential efficacy of psychotropic drugs in managing psychiatric aspects of Fahr's disease.
- Early identification and symptomatic treatment of psychiatric disturbances may improve patient outcomes.
- Further research into the genetic and clinical spectrum of Fahr's disease is warranted.
Abstract:
Fahr's disease is a rare neurodegenerative disorder caused by bilateral and usually symmetrical intracranial calcifications. In most cases, it exhibits an autosomal dominant pattern of inheritance and genetic heterogeneity. Patients may present with movement disorders, cognitive impairment, and psychiatric disorders. Currently, there are no disease-modifying drugs, so the management is based on the treatment of the symptoms. We present two cases involving male siblings, both with psychiatric symptoms as the initial presentation of the disease. Brain computed tomography revealed bilateral calcifications in the basal ganglia for which no underlying cause was found. In both cases, remission of behavioural changes and psychiatric symptoms was achieved with psychotropic drugs.
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