Syndrome de Fahr : à propos de deux cas

Fahr's syndrome with hyperparathyroidism revealed by seizures and proximal weakness

“…Fahr's syndrome is to differentiate from Fahr's disease, which is an autosomal dominant disorder caused by mutations in the BGC1 gene located on chromosome 14q. It does not cause phosphocalcic metabolism impairment [5,8] while the presence of this defect defines Fahr's syndrome [9].…”

Levels of pro-Inflammatory Mediators CRP, IL-1β and IL-6 in Alkaptonuria Patients

“…Owing to this effect, a positive diagnosis of AKU can be made on the first days of life by observing dark-stained diapers (Wagner, Knott, Machaffie, & Walsh, 1960) and later on by measuring 24-hour urine HGA levels. The second stage of the disease begins in adulthood, when pigmentation occurs in sclera, ear cartilage, and when a degenerative form of arthropathy becomes the most common clinical presentation of AKU (Khammassi, Mohsen, Abdelhedi, Tougourti, & Hamza, 2010). Ochronotic arthritis has features resembling other rheumatologic diseases, such as rheumatoid arthritis, ankylosing spondylitis and degenerative osteoarthritis, affecting primarily the larger joints such as hips and knees.…”

CT Diagnosis of Fahr disease, a case report

“…Fahr's disease is a rare inherited or sporadic neurological disorder with a prevalence of <1/1,000,000, with a higher incidence reported among males and a typical age of onset in the 4th-6th 3rd-5th decade of life [1]. Fahr's disease, or idiopathic striopallidodentate calcinosis, or idiopathic basal ganglia calcification is a rare clinical entity characterized by bilateral and symmetrical intracerebral calcifications of the basal ganglia, thalamus, dentate nucleus and centrum semiovale in the absence of any metabolic abnormality including hypoparathyroidism [2,3]. Within the basal ganglia, the globus pallidus is the most frequent site of calcification, but deposits may be present in the putamen, caudate nucleus, and internal capsule, dentate nucleus of the cerebellum, thalamus, and the periventricular white matter [4,5].…”