Fahr's disease: sporadic case of a symptomatic patient with histological confirmation

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.