Fact-sheet: Fahr disease - Fahr's syndrome
Updated on 04/21/2016 at 11:35 PM
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Definition
Fahr syndrome: Massive calcifications of the basal ganglia that may be secondary to:
- Fahr disease
- disorders of phosphocalcium metabolism
- lupus
- celiac disease
- cavernoma
- tuberous sclerosis of Bourneville
- metastases
- neurocysticercosis
- toxoplasmosis, alveolar echinococcosis, hydatidosis
- tuberculosis
- lead poisoning, CO
• Striato-pallido-dentate calcifications
• Basal ganglia calcifications
• 0.7 to 2% of the general population
• Sporadic / familial
• Secondary (numerous causes) / idiopathic
• Variable size (small,
limited to the pallidum)
• Minimally symptomatic
Main etiologies of sporadic cerebral calcifications:
• Disorders of phosphocalcium metabolism
• Lupus
• Celiac disease
• Cavernomas
• Primary tumors, tuberous sclerosis of Bourneville
• Metastases
• Neurocysticercosis
• Toxoplasmosis
• Echinococcosis, hydatidosis
• Tuberculoma
• Celiac disease
• Lead poisoning, CO, radiotherapy
Main etiologies of familial basal ganglia calcifications:
Hereditary disorders of phosphocalcium metabolism
– Hypoparathyroidism
– Pseudohypoparathyroidism
– Pseudopseudohypoparathyroidism
• Mitochondriopathies (in adults)
– MELAS
– Kearns-Sayre
– Leigh
– MERRF
• Rare hereditary diseases (in children)
– Aicardi-Goutières
– Cockayne
– Coats
– Krabbe
• Idiopathic familial basal ganglia calcifications
Clinical features
Clinical features:
Abnormal movements: 43.8%
– Focal dystonia, chorea, tremor, myoclonus, etc.
• Subcortico-frontal type dementia: 30%
• Extrapyramidal syndromes: 30%
• Cerebellar ataxia: 20%
• Epilepsy
• Intellectual disability
• Pyramidal syndrome
• Psychosis: 18.9%
• Depression
• Asymptomatic calcifications: 35%
CT
Large, bilateral, symmetric calcifications.
Location: pallidum (96.7%), striatum, thalamus, cerebellar dentate nuclei, white matter
MRI
Diffuse white matter lesions
