Fahr syndrome

Case contributed by Dr Carlos Ruiz Badilla

Presentation

History of diabetes, hypertension, chronic hearing loss, and dementia.

Patient Data

Age: 80 years
Gender: Female
CT

There are symmetric bilateral calcifications in the corona radiata and globus pallidus, as well as cerebellar dentate nuclei, compatible with Fahr syndrome. Incidentally, there is also a rounded soft tissue density in left nasal cavity, compatible with a nasal polyp. 

Case Discussion

Fahr syndrome is a rare condition characterized by abnormal calcium deposits in the basal ganglia, thalamus, cerebellar dentate nuclei, and subcortical white matter, especially noted in older patients. These calcium deposits consist of calcium carbonate and calcium phosphate. 

There are many possible etiologies of Fahr syndrome. Its primary form, Fahr disease, is most commonly transmitted as an autosomal dominant trait, but it may also be inherited as an autosomal recessive trait or it may occur sporadically. Fahr syndrome, which generally refers to secondary causes, has been associated with a large number of conditions, most common of which are endocrinopathies, mitochondrial disorders, and infectious diseases. In all cases of suspected Fahr syndrome, additional tests should be performed to investigate for a potential secondary cause, and exclude other differential diagnoses.

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Case information

rID: 61675
Published: 13th Jul 2018
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: Universidad de Costa Rica

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