Fahr disease

Fahr disease is a disorder that is characterised with the massive calcification in cerebral basal ganglions or cerebellum. Clinical findings vary from minimal motional disorders to
convulsions and may be sporadic, familial or idiopatic. Also this disease may be related with hypoparathyroidism or defect of free radical production or iron transportion.
13 year old boy patient who has unvoluntary contractions in his hands, feet and face during the last month attended to a private hospital. Bilateral symetric widespread calcification in subcortical area and basal ganglions has been seen in CCT and the patient has been sent to our unit. In physical examination; his coreatetoic motions has been seen. Laboratory findings; Ca: 7.2 mg/dl, P: 6.8 mg/dl, ALP: 499 U/l, Serum PTH: 381 pg/ml (N: 12-72 pg/ml).
In his cranial MRI investigation: T1 hyperintention in bilateral dental nucleus, putamen and caudat nucleus and symetric signal increase especially in basal ganglions has been seen.
The patient has been accepted as pseudohypoparathyroid and treated with calsitriol and calsium lactate. This case is presented in order to discuss the relationship between intracerebral calsifications and endocrinopathies.

Fahr hastalýðý