A Rare Case of Fahr's Syndrome and Associated Hypoparathyroidism
Presentation Number: SAT 319
Date of Presentation: April 1st, 2017
Almoutaz Shakally*1 and Ameer Khowaja2
1University of Minnesota, Minneapolis, MN, 2Hennepin County Medical Center, Minneapolis, MN
Fahr's syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. The etiology of this syndrome is not fully understood. However, associations with a number of conditions have been noted; most common of which are endocrine disorders including hypoparathyroidism, pseudohypoparathyroidism and hyperparathyroidism. Clinically, it may present with an array of movement disorders, cognitive impairment, dementia and seizure.
We present a case of a 53-year-old female who was admitted for evaluation of seizures. She had 3 episodes of tonic-clonic seizures within a period of 48 hours. The patient was found to have extremely low calcium upon admission with an ionized calcium of 2.24 mg/dl and a total calcium of 4.6 mg/dl. Phosphorus was elevated to 8.3 mg/dl. Further investigation revealed undetectable iPTH level and a 25-OH Vitamin D level of 15 pg/ml
Head CT scan showed Diffuse and prominent calcifications of the subcortical white matter, basal ganglia, and choroid plexus in a bilateral symmetric distribution throughout the cerebral and cerebellar hemispheres. A Follow up brain MRI revealed Diffuse T2 hypointensity involving the basal ganglia, dentate nuclei and linear/curvilinear T2 hypo intensities within cerebral hemispheres and cerebellum. The diagnosis of Fahr's disease was made based on the clinical presentation and the radiographic findings.
The patient was started on calcium gluconate 1 amp intravenously twice daily, IV calcitriol 1 mcg IV daily, and PhosLo (calcium acetate) one tablet three times daily with meals. The patient's calcium level was monitored throughout her hospital course. Upon discharge, her calcium level was 6.8 mg/dl. The patient was sent home on a prescription of calcium carbonate with vitamin D supplement 500/200, 1 tablet orally three times daily, calcitriol 0.5 mcg 2 capsules orally twice daily. The pt was also recommended to be placed on a divalproex 1 gram ER daily permanently due to the extensive brain calcifications.
Fahr’s syndrome is a rare disease. However, the association with endocrine disorders especially hypoparathyroidism is common. Since correcting the impaired calcium and phosphorus metabolism often leads to considerable improvement, it is essential to evaluate and treat patients with this syndrome for parathyroid disorders.
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