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Clinical Images  |   November 2020
Primary Familial Brain Calcification
Author Notes
  • 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
     
Article Information
Clinical Images   |   November 2020
Primary Familial Brain Calcification
The Journal of the American Osteopathic Association, November 2020, Vol. 120, 808. doi:https://doi.org/10.7556/jaoa.2020.116
The Journal of the American Osteopathic Association, November 2020, Vol. 120, 808. doi:https://doi.org/10.7556/jaoa.2020.116
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 
References
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Ramos EM, Oliveira J, Sobrido MJ, Coppola G. Primary Familial Brain Calcification. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
Perugula ML, Lippmann S. Fahr's disease or Fahr's syndrome?. Innov Clin Neurosci. 2016;13(7-8):45-46. [PubMed]
Ramos EM, Carecchio M, Lemos R, et al. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018;26(10):1462-1477. doi: 10.1038/s41432-018-0185-4. [CrossRef] [PubMed]