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[A family of Fahr's disease]
1Hospital of China-Japanese Friendship.
Zhonghua Shen Jing Jing Shen Ke Za Zhi = Chinese Journal of Neurology and Psychiatry
|June 1, 1991
Insights
Fahr's disease, an autosomal dominant condition, affected 5 individuals across 3 generations. CT scans revealed characteristic high-density lesions in the brain, despite initial normal findings apart from intellectual impairment.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Fahr's disease is a rare neurological disorder characterized by abnormal calcification in the brain.
- Autosomal dominant inheritance patterns have been suggested for some families with Fahr's disease.
- Understanding the genetic basis and clinical manifestations is crucial for diagnosis and management.
Observation:
- A family spanning 3 generations with 5 affected members presented with Fahr's disease.
- The proband required surgery for an intracranial hematoma.
- Clinical examination revealed intellectual impairment as the primary abnormality.
Findings:
- Cerebral Computed Tomography (CT) scans demonstrated high-density lesions.
- These lesions were predominantly located in the basal ganglia, cerebellum, and cerebral white matter.
- The imaging findings are consistent with the pathophysiology of Fahr's disease.
Implications:
- This case series highlights the autosomal dominant inheritance pattern of Fahr's disease.
- Early identification of brain calcifications through CT imaging is vital.
- Further research into the genetic underpinnings may lead to targeted therapies for Fahr's disease.
Abstract:
A family of Fahr's disease with autosomal dominant inheritance was reported 5 cases in 3 generations were affected in this family. The first patient was admitted for operation because of intracranial hematoma. No specific abnormality was found in the patients except intellectual impairment CT, however, revealed high density lesions in basal ganglion cerebellum, and cerebral white matter.