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Fahr's Disease: A Differential to Be Considered for Various Neuropsychiatric Presentations
Seyedmohammad Pourshahid1, Mohammad Nour Salloum1, Mohanad Elfishawi1
1Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center.
Insights
Fahr's disease, a hereditary neurodegenerative disorder, often presents with psychiatric symptoms and is underdiagnosed. Early-onset cases highlight the need for investigating organic causes in patients with neuropsychiatric or unexplained cerebral calcification symptoms.
Area of Science:
- Neurology
- Neurogenetics
- Neuropsychiatry
Background:
- Fahr's disease, or familial idiopathic basal ganglia calcification, is a rare neurodegenerative condition.
- It primarily affects cerebral microvessels in the basal ganglia and is typically inherited in an autosomal dominant pattern.
- The condition is often underestimated and underdiagnosed due to variable presentations and incomplete penetrance.
Observation:
- This report details an early-onset case of Fahr's disease.
- The patient presented predominantly with psychiatric symptoms, underscoring the diverse clinical manifestations.
- The variability in symptoms and age of onset complicates diagnosis.
Findings:
- Fahr's disease involves calcification of the basal ganglia and cerebral microvessels.
- Neuropsychiatric symptoms are a key feature, though often varied.
- Genetic factors play a significant role in its hereditary nature.
Implications:
- Increased awareness and investigation are crucial for accurate diagnosis of Fahr's disease.
- Consideration of Fahr's disease is recommended for patients with unexplained neuropsychiatric symptoms or cerebral calcification.
- Further research into early diagnosis and genetic factors is warranted for affected families.
Abstract:
Fahr's disease, also known as familial idiopathic basal ganglia calcification, is a neurodegenerative disorder affecting cerebral microvessels, mainly the basal ganglia, and presenting with diverse neuropsychiatric manifestations. It is considered to be mainly hereditary, with autosomal dominant inheritance. In light of its various presentations and incomplete penetrance, Fahr's disease is known to be underestimated and underdiagnosed. Here, an early-onset case of Fahr's disease is presented mainly with pure psychiatric symptoms. Given the diversity of the presenting symptoms, and variations in the age of onset, further investigation of organic etiologies in patients presenting with neuropsychiatric symptoms, family members of patients with Fahr's disease, and patients with unexplained cerebral calcification is recommended.