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Fahr's disease (Maladie de Fahr)

Case contributed by: Dr Rahmoun Fateh

Presentation:

Extra-pyramidal symptoms (Syndrome extra pyramidal avec trouble de la marche et convulsion)

Patient Data:

Age: 76

Gender: Male

Race: Caucasian

From the case: Fahr's disease (Maladie de Fahr)

Modality: CT

non-contrast

Calcifications des noyaux gris centraux à l'étage sus-tentoriel avec calcifications de la substance blanche.

CT-scan shows bilateral basal ganglia calcifications with bilateral subcortical white matter calcifications, compatible with Fahr's disease (familial cerebral ferrocalcinosis).

Case Discussion:

Fahr's disease is usually initially asymptomatic in most patients. However, various neurological symptoms may develop later in life, such as psychosis, dementia & movement disorders (parkinsonism). The differential diagnosis of basal ganglia calcifications is wide and includes :

neurocysticercosis
carbon monoxide poisoning
congenital infections (e.g. CMV)
hyperparathyroidism
hypoparathyroidism, pseudohypoparathyroidism & pseudopseudohypoparathyroidism
hyperthyroidism
tuberculosis
normal ageing
etc.

The differential diagnosis is discussed in greater details here.

Related article:

Fahr's disease

References:

1. Grossman RI, Yousem DM. Neuroradiology, the requisites. Mosby Inc. (2003) ISBN:032300508X. Read it at Google Books - Find it at Amazon
2. Shenoy AM, Volpe D, Ensrud ER. Fahr's disease. Pract Neurol. 2009;9 (2): 100-1. doi:10.1136/jnnp.2008.166157 - Pubmed citation