Fahr Syndrome: A Rare Encounter

A 59-year-old male, with a previous history of seizure disorder and psychosis, was found unconscious on the road and was admitted. Even after regaining consciousness, the patient had altered sensorium. Biochemical investigations showed hypocalcemia (4.4 mg%), hyperphosphatemia (12.7 mg%), and elevated uric acid (13.8 mg%), blood urea nitrogen (41 mg%), creatinine (3 mg%), serum glutamate pyruvate transaminase levels (2,451 U/L), and serum glutamic-oxaloacetic transaminase levels (4,024 U/L). Computed tomography axial sections revealed bilateral diffuse symmetric chunky calcifications involving the subcortical white matter, deep white matter, basal ganglia, thalami, and dentate nuclei suggestive of Fahr's syndrome ([Fig. 1A, B]). Patient expired while on treatment and the postmortem examination of the brain confirmed the above findings. On gross examination, the slices were gritty during sectioning ([Fig. 1C, D]). The microscopical examination showed small chunky calcification in the cerebral cortex, basal ganglia, hippocampus, and cerebellum ([Fig. 2]).

Fig. 1 (A) Computed tomography (CT) scan of the brain shows bilateral frontoparietal areas. Small spicules of calcification are seen bilaterally (white hyperdensities marked with yellow arrow). (B) CT scan of the brain shows bilateral basal ganglia. Small spicules of calcification are seen bilaterally (white hyperdensities marked with yellow arrow). (C and D) The gross images show serial coronal slices of the cerebral cortex with small spicules of calcification. (C and D—black arrow marks calcification) Cut section was gritty.

Fig. 2 (A) Photomicrograph of the cerebral cortex shows small calcific foci (hematoxylin and eosin [H&E], 100 × , marked with a black circle). (B) Photomicrograph of the basal ganglia shows small calcific foci (H&E, 400 × , marked with a black circle). (C) Photomicrograph of the dentate fascia of the hippocampus shows calcification especially around the vessels (H&E, 100 × , marked with a black circle). (D) Photomicrograph of the cerebellum shows calcification in the granular cell layer and white matter (H&E, 100 × , marked with a black circle).

Fahr syndrome is a rare neurodegenerative disorder with a prevalence of < 1/1,000,000 and characterized by bilateral striato-pallido-dentate calcification.[1] [2] Calcification can also be seen in the thalamus, hippocampus, subcortical white matter, cerebral cortex, and cerebellum. Patients present with movement disorders, neuropsychiatric features, or cognitive impairment in the third to fourth decade of life.[1] The common secondary causes for Fahr's syndrome are hypoparathyroidism, neuroferritinopathy, Kenny–Caffey syndrome, tuberous sclerosis complex, intrauterine and perinatal infection, and Brucella infection.[1] [2] [3] Fahr's disease is a genetic disorder with autosomal dominant mode of inheritance and is not associated with any of the secondary causes mentioned above. A case of symmetrical intracranial calcification should be extensively investigated for the exact cause and a correct diagnosis with prompt treatment will help to improve the quality of life of the patient.

Publication History

Article published online:
21 May 2025

• References

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