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It has many names but there is idiopathic basal ganglia calcification, is a rare, inherited or sporadic neurological disorder characterized by abnormal calcification in the basal ganglia, cerebral cortex, and other brain regions. These calcifications often lead to a variety of neurological and psychiatric symptoms.

About

• Familial idiopathic basal ganglia calcification
• First described in 1930 by T. Fahr (Pre CT)
• Seen in < 1 in 1,000,000

Aetiology

• Calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter and Dentate Nucleus.
• Progressive neurodegenerative illness inherited as an Autosomal dominant

Clinical

• Age of onset is typically in the 40s or 50s but can be younger
• Weakness, dementia, seizures, headache, dysarthria
• Spasticity, athetosis, Parkinsonism, Dystonia, Chorea

Differentials of calcification

• Hypoparathyroidism, vasculitis, mitochondrial disorders
• Infections, radiation, chaemotherapy and carbon monoxide poisoning

Clinical Differentials

• Parkinson's disease
• Huntington chorea
• Dementia

Investigations

• Bloods: serum calcium, phosphorus, magnesium, parathyroid hormone (PTH), and vitamin D levels to rule out metabolic causes of calcification.
• CT/MRI: Calcification is often seen in the brain, particularly in the basal ganglia, cerebellum, thalamus, hippocampus, cerebral cortex.
• Genetic Testing: Can confirm a diagnosis if a hereditary form of Fahr syndrome is suspected based on family history or clinical presentation.<

Management

• Prognosis variable. Calcification is only seen in ageing patients and so could be falsely negative
• Fahr's syndrome is a progressive disease with no known cure and no specific treatments at this time