Primary Familial Brain Calcification

Melvin Parasram; J. Levi Chazen; Harini Sarva

doi:10.7556/jaoa.2020.116

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Primary Familial Brain Calcification

Melvin Parasram , J. Levi Chazen and Harini Sarva

Published/Copyright: November 1, 2020

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From the journal Journal of Osteopathic Medicine Volume 120 Issue 11

A 61-year-old woman presented with recurrent falls, worsening gait, and dysarthria. She was given a diagnosis of primary familial brain calcification (PFBC), or Fahr disease, 3 years prior after developing gait difficulty, declining motor function, and dysarthria. Prior noncontrast computed tomography of the head revealed bilateral and symmetric basal ganglia calcifications. An extensive workup revealed no secondary causes of intracranial calcifications. Carbidopa-levodopa was ineffective. Examination demonstrated poor recall, dysarthria, right arm spasticity, left arm bradykinesia, and a wide-based, shuffling gait. Laboratory testing was unremarkable. The extent of calcification and clinical correlates excluded physiological calcifications.¹ The patient's presentation and computed tomography of head were consistent with PFBC (image).^2,3

PFBC is a primary neurodegenerative disorder, characterized by symmetric and bilateral calcifications of the cerebellum, periventricular white matter, and basal ganglia.² Fahr syndrome occurs secondary to an underlying cause.³ Clinical manifestations include spasticity, parkinsonism, cerebellar ataxia, cognitive impairment, and seizures.² Symptom onset occurs between 40 and 60 years of age.^2,3 PFBC is associated with autosomal dominant mutations: SLC20A2, PDGFRB, PDGFB, and XPR1.⁴ Course is progressive, and treatment is symptomatic.²

From the Departments of Neurology (Drs Parasram and Sarva) and Radiology (Dr Chazen) at Weill Cornell Medicine in New York, New York.

Financial Disclosures: None reported.

Support: None reported.

^*Address correspondence to Melvin Parasram, DO, MS, Weill Cornell Medicine, Department of Neurology, 520 E 70th St, Starr Pavilion 607, New York, NY 10021-9800. Email: mep9801@nyp.org

References

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2. RamosEM, OliveiraJ, SobridoMJ, CoppolaG.Primary Familial Brain Calcification. In: AdamMP, ArdingerHH, PagonRA, et al., eds. GeneReviews^®. Seattle (WA): University of Washington, Seattle; 1993.Search in Google Scholar

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Received: 2020-03-05

Accepted: 2020-03-16

Published Online: 2020-11-01

Published in Print: 2020-11-01

Articles in the same Issue

https://doi.org/10.7556/jaoa.2020.116