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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
These calcifications are the result of a buildup of calcium deposits in the blood vessels within this brain region. Over time, these vessels harden and the tissue they are a part of dies, causing lesions. The amount of calcification is often related to disease duration. [10]
Calcification is the accumulation of calcium salts in a body tissue. It normally occurs in the formation of bone, but calcium can be deposited abnormally in soft tissue, [1] [2] causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification. [3]
However, the brain may appear normal in the neonatal period. The calcifications are visible both with computed tomography and with magnetic resonance imaging. Magnetic resonance imaging shows additionally diffuse or patchy white matter changes, especially in the periventricular region, the thalami and the internal capsule. Cerebellar and ...
Calcification rates vary widely by country and correlate with an increase in age, with calcification occurring in an estimated 40% of Americans by age seventeen. [35] Calcification of the pineal gland is associated with corpora arenacea, also known as "brain sand".
Dystrophic calcification can occur even if the amount of calcium in the blood is not elevated, in contrast to metastatic calcification, which is a consequence of a systemic mineral imbalance, including hypercalcemia and/or hyperphosphatemia, that leads to calcium deposition in healthy tissues. [2]
There is also malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark. This causes calcification of tissue and loss of nerve cells in the cerebral cortex. [citation needed] Neurological signs include seizures that begin in infancy and may worsen with age.
MRIs are better for evaluating different spatial planes and provides clearer images, which helps in identifying small lesions at the back of the brain or near the skull that may be missed on CT scans. CT scans are more sensitive at detecting calcium buildup in the brain due to its ability detect calcifications in the brain. [26]