Endocrine Abstracts

JOINT280

Introduction: Fahr’s syndrome is a rare condition that was first described by German neurologist, Theodor Fahr, in 1930. It’s characterized by the presence of symmetrical bilateral calcifications in the brain including the thalamus and the basal ganglia. Clinical features include neuropsychiatric symptoms like behavioural changes, cognitive impairment, seizures, extrapyramidal signs, etc. Fahr’s syndrome is secondary to other conditions, most commonly hypoparathyroidism but it can also be associated with certain infections, neurodegenerative or mitochondrial disorders. Fahr’s syndrome is not the same as Fahr’s disease. The latter also causes intracranial calcifications but they are not associated with any abnormality in phosphate or calcium metabolism. We report a case of Fahr’s syndrome and Hypoparathyroidism.

Case Report: This is a 57 years old gentleman who presented to the acute ambulatory unit reporting worsening headache, sleeping disturbances and non-specific tingling sensation in his arms. There was no weakness or visual field defects. He does not smoke or drink Alcohol. He reported his father had problems with his calcium that needed calcium supplements. His bloods showed significant hypocalcaemia with hypoparathyroidism. His adjusted calcium was 1.57 mmol/l, phosphate was 1.7 mmol/l, Parathyroid hormone was 0.3 pmol/l and his magnesium was 0.68 mmol/l. He was treated for his hypocalcaemia urgently. History included being involved in an explosion back in his home country where the bullet/Shrapnel scraped but did not penetrate his skull. CT head showed extensive bilateral symmetrical calcifications in the basal ganglia (caudate and lentiform nuclei), corona radiata pulvinar and dentate nuclei of the cerebellar hemispheres with no mass effect. These findings are consistent with Fahr’s disease or Fahr’s syndrome. Patient was started on Alfaclcidol 1 mg TDS and calcium 1 gm TDS aiming to prevent a calcium phosphate balance shift towards hyperphosphatemia which might trigger further calcifications. Patient’s symptoms improved and has been stable on this dose of Calcium and Alfacalcidol. His bone profile is being checked every 2 months to ensure target levels achieved.

Conclusions: Fahr’s syndrome is a rare but treatable condition that should be distinguished from Primary familial brain calcification (Fahr’s disease) as the latter’s etiology and management are unknown. Parathyroid abnormalities count are the most common causes of Fahr’s syndrome, specially hypoparathyroidism. Management is with calcium and activated vitamin D which if given early, can prevent further calcifications.