Abstract:
Background. Farh's disease is a rare neurological disorder characterized by abnormal
calcium deposits in the basal ganglia. It is inherited in an autosomal dominant manner, but
sporadic cases may also occur. Clinical manifestations include movement and
neuropsychiatric disorders. Radiological confirmation is mandatory.
Objective(s). Presentation of a clinical case of histologically confirmed Fahr's disease in a
patient with obvious clinical and radiological signs. Differential diagnosis between Fahr's
disease and Farh's syndrome.
Materials and methods. Clinical and paraclinical data and medical history were retrieved
from the hospital database. Imaging diagnostic of the patient included non-enhanced CT of
the brain, abdomen and pelvis, thoracic radiography, abdominal USG. Variety of the lab tests
were done to evaluate associate diseases. A brief review of the relevant literature was done.
Results. A 68-y.o. man was hospitalized in the neurological department with fever, fatigue,
absence of the verbal contact. Patient neurological history is progressive movement deficit,
started at age of 45 (currently thetraparesis) and psychoneurological decline. Associated
conditions included type II DM, grade III anemia, acute renal failure, and bilateral
pneumonia. Brain CT revealed extensive bilateral calcification of basal ganglia, thalami,
cerebellar white matter, hemispheres and pons, brain atrophy. Lab tests excluded
hypoparathyroidism, hematological disorders. The diagnostic of Farh's disease was
confirmed on autopsy.
Conclusion(s). Farh's disease is a rare neurological condition, diagnosed radiologically,
which can lead to severe movement disorders and early dementia. The presence of
underlying metabolic or autoimmune disorders, associated with typical CT signs excludes
the primary disease and is called Farh's syndrome.
