Endocrine Abstracts

A 58 year old male diagnosed with ‘Parkinson's Disease’ in 2016 following symptoms of Parkinsonism and a DaTscan, was admitted with seizures. He was given Benzodiazepines in the A&E which helped control the seizures. A CT scan of his head revealed Bilateral Basal Ganglia calcification. This was the first time he had seizures, but he did complain of having on and off facial twitching and muscle spasms. There was no history of trauma to the head, fevers, or change in consciousness levels. He said that in 2014, before any of the symptoms of PD developed he had seen his GP who noted that he had low Vitamin D and Calclium levels, and had replaced his Vitamin D. He was then lost to follow up. He had no other significant Past or Family History. He did not smoke, and was a teetotaler. Examination revealed, the presence of an Expressionless face, Chvostek's sign, increased general tone, and reduced mobility.

Investigations: • Labs:

1. FBC: NAD

2. Renal Profile: Na: 144 mmol/l, K: 4.4 mmol/l, Cl: 104 mmol/l, Creat: 78 umol/l, eGFR>90 ml/min

3. Bone Profile: Protein: 68 g/l, Albumin: 40 g/l, ALP: 89 u/l, C.Ca: 1.32 mmol/l, Phosphate: 1.85 mmol/l

4. Vitamin D: 18 nmol/l, Magnesium: 0.84 mmol/l

5. Parathormone: 4.5 ng/l

• Imaging:

1. CT head (02/12/2019): Bilateral basal ganglia calcification.

2. DaTscan: (2018): Reduced uptake of Dopamine in Basal ganglia.

The patient was treated with IV calcium gluconate till Corrected Calcium levels reached 1.9 mmol/l. He was started on Vitamin D correction with colecalciferol 40 000 IU/weekly for 7 weeks, Alfacalcidol 1 mcg/day, and calcium carbonate. He was discharged, and followed up in our clinic a couple of weeks later. Unfortunately there was no improvement in neurological symptoms as yet. His bloods revealed a normalisation of his Vitamin D levels to 65 nmol/l, while his Corrected Calcium continued to be 1.9 mmol/l. We have planned a referral for genetic testing, and are awaiting his consent for it.

Conclusions: Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder associated with Hypoparathyroidism and abnormal deposits of calcium in areas of the brain that control movement, like the basal ganglia and the cerebral cortex. Patients with Fahr's syndrome often present with deterioration of motor function, seizures, headache, dementia, dysarthria, rigidity/spasticity, tremors, mask-like face and shuffling gait. Fahr's Syndrome should remain a differential in patients with features of parkinsonism and hypocalcaemia.

Points for discussion: • Neurological features of Fahr's syndrome, may or may not improvement with calcium replacement.

• Could this gentleman's fate be any different if the condition was picked earlier?