099 A case of possible Fahr's disease. Issue 6 (24th May 2018)

• Record Type: Journal Article
• Authors: Saleem, Sameer; Gawarikar, Yash; Patel, Ronak
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 89:Issue 6(2018)
• Page Start: A39
• Page End: A39
• Publication Date: 2018-05-24
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2018-ANZAN.98
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Introduction: Idiopathic basal ganglia calcification (IBGC) or Fahr's disease is an autosomal dominant, rare progressive neurological disorder, of unknown aetiology. It is characterised by abnormal deposition of calcium in the basal ganglia and other brain regions. We present the case of a woman with Fahr's disease. Case: 63 year old woman presented with rapid cognitive decline on resuming work after a long holiday. Her co-morbidities included type 1 diabetes, Crohn's disease and hypertension. She was slow at work, had difficulty concentrating, tired and forgetful in paying important bills. On initial clinical examination, she was fidgety without any choreiform movements or parkinsonian features. Addenbrooke's cognitive assessment scored 90/100 but lost points in fluency and visuospatial. MRI brain showed bilateral symmetrical blooming artefacts suggestive of calcifications involving basal ganglia, thalami, cerebellar hemispheres and occipital cortices and also extensive white matter disease. CT brain confirmed intracerebral calcification involving the same areas in MRI. She had an ANA of 1280, dsDNA of 40, antiphospholipid Abs with b2GP1 IgG of 20 U/mL and a normal lumbar puncture. During follow-up, she had developed choreiform movements of her trunk and legs, bilateral dysdiadochokinesia, and bradykinesia on repetitive fine finger movements. Her Montreal cognitive assessment score was 24/30. Conclusion: Fahr's disease is a very rare condition with unknown prevalence. Typical age of presentation is between the 4th – 6th decades but early onset is reported. Symptoms include Parkinsonism, chorea, dystonia, cognitive impairment, seizures, headache or ataxia. The familial form of IBGC is genetically heterogeneous and both sporadic and familial forms are not associated with disorders of calcium or parathyroid hormone metabolism. Our case illustrates the high index of clinical suspicion necessary to diagnose rare conditions such as Fahr's disease.