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Innovations in Clinical Neuroscience logoLink to Innovations in Clinical Neuroscience
. 2016 Aug 1;13(7-8):45–46.

Fahr’s Disease or Fahr’s Syndrome?

Malathi Latha Perugula 1, Steven Lippmann 1,
PMCID: PMC5022990  PMID: 27672489

This column series compares neurological conditions that pose differential challenges in diagnoses.

Fahr’s disease and Fahr’s syndrome are two conditions characterized by calcification in certain areas of the brain that results in neurological and/or psychiatric sequelae in patients. While the symptoms and signs of both conditions may resemble one another, there are distinct, critical differences that exist regarding the etiology, location of lesions, prognosis, and treatment. Thus, it is important for clinicians to be familiar with the similarities and differences between Fahr’s disease and Fahr’s syndrome, so that an accurate diagnosis can be made and appropriate therapy initiated.

DIAGNOSTIC CHECKLIST. Fahr’s disease or Fahr’s syndrome?1-6

A diagnosis of either Fahr’s disease or Fahr’s syndrome should be considered if some or all of the following symptoms are present:
  • _ Basal ganglia movement disorder

  • _ Pyramidal signs

  • _ Cognitive impairment

  • _ Gait disorder

  • _ Cerebellar abnormalities

  • _ Speech dysfunction

  • _ Psychiatric presentations

  • _ Sensory changes.

Consider a diagnosis of Fahr’s disease if
  • _ Age of onset 40 to 60 years

  • _ Evidence of coarse, progressive, bilateral, symmetrical basal ganglia calcification (Figures 1 and 2)

  • _ Presence of genetic autosomal dominant or recessive trait

Consider a diagnosis of Fahr’s syndrome if

and
Presence of any of the following endocrinopathies:
  • _ idiopathic hypoparathyroidism

  • _ secondary hypoparathyroidism

  • _ pseudohypoparathyroidism

  • _ pseudopseudohypoparathyroidism

  • _ hyperparathyroidism


or
Presence of any of the following:
  • _ brucellosis infection, intrauterine or perinatal

  • _ neuroferritinopathy

  • _ polycystic lipomembranous osteodysplasia with sclerosing leucoencephaloathy

  • _ Cockayne syndrome

  • _ Aicardi-Gouteres syndrome

  • _ tuberous sclerosis

  • _ mitochondrial myopathy

  • _ lipoid proteinosis

Treatment
If Fahr’s disease—
  • No specific remediation; only symptomatic therapies.


If Fahr’s syndrome—
  • Treatment should be directed at the specific pathology, with symptomatic therapy adjunctively.

FIGURES 1 and 2.

FIGURES 1 and 2.

Computerized tomographic scans of the head in 2010 (Figure 1) and 2013 (Figure 2) reveal coarse bilateral, symmetrical calcifications in the basal ganglia, with progression in 2013.

Images reprinted with permission. Goyal et al. Would you recognize Fahr’s disease if you saw it? Innov Clin Neurosci. 2014;11(1–2):26–28

Footnotes

FUNDING:No funding was provided for the preparation of this article.

FINANCIAL DISCLOSURES:The authors have no conflicts of interest relevant to the content of this article.

REFERENCES

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