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