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Fahr's disease in two siblings in a family: A case report
Hong Wang1, Bei Shao1, Liuqing Wang2
1Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, P.R. China.
Insights
Fahr's disease, a rare neurological disorder, presents uniquely in siblings with early onset and varied symptoms like Parkinsonism and seizures. Early diagnosis via CT scans and tailored treatments offer symptom relief.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Idiopathic basal ganglia calcification (Fahr's disease) is a rare neurological disorder.
- Typically affects adults, characterized by basal ganglia calcification, Parkinsonism, and psychiatric symptoms.
- Familial occurrence suggests a potential genetic component.
Purpose of the Study:
- To describe two pediatric cases of Fahr's disease in siblings.
- To highlight the varied clinical presentations despite similar intracranial calcifications.
- To emphasize diagnostic and therapeutic approaches.
Main Methods:
- Case report of two siblings with Fahr's disease.
- Clinical assessment including neurological examination and cognitive function evaluation.
- Diagnostic imaging using computed tomography (CT) scans.
Main Results:
- Early onset of Fahr's disease in siblings (teens and early childhood).
- Distinct clinical manifestations: male patient with Parkinsonism and calculation difficulties; female patient with seizures and cerebellar ataxia.
- Both patients showed similar intracranial multiple calcifications on CT scans.
Conclusions:
- Fahr's disease can manifest with diverse symptoms, even within the same family.
- CT scan is crucial for diagnosing basal ganglia calcification.
- Symptomatic treatment, including dopaminergic agents and antiepileptics, can effectively manage specific manifestations.
Abstract:
Idiopathic basal ganglia calcification, also known as Fahr's disease, is a rare neurological disease characterized by basal ganglia calcification, Parkinsonism and psychiatric symptoms. The majority of patients with Fahr's disease are adults. The present study describes the cases of two patients with Fahr's disease. The patients were brother and sister and their parents were close relatives. The onset age of Fahr's disease in these two patients was early, with the onset age of the brother being in the teens and the sister in early childhood. The patients exhibited different clinical manifestations. The main symptoms of the male patient were Parkinson's disease appearance and the loss of the ability to carry out simple calculations, while the main symptoms of the female patient were grand mal seizures and cerebellar ataxia. Although the two patients had distinct clinical manifestations, they both had similar intracranial multiple calcifications. The computed tomography scan remains the main method used in the diagnosis of Fahr's disease. Following treatment with dopamine and a dopamine receptor agonist, the extra-pyramidal symptoms of the male were significantly relieved. The female patient was administered antiepileptic drugs and there was no recurrence of epilepsy following treatment.
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