An unusual case of Fahr's disease

Cerebral calcification from Fahr's disease with co-existing haemochromatosis

“…10 Genetic tests can also be performed looking for mutations, the most common of which is the mutation of the gene SLC20A2, which is located on chromosome 8. 8,15 It is suggested that a CT head that is normal at the age of 55 can exclude the diagnosis of Fahr's disease. 16,17 Unfortunately, there is no cure for Fahr's disease.…”

Fahr’s Disease: Report of Two Cases

“…Others suggested abnormalities in intracranial oxygen metabolism after the observation of elevated cerebrospinal fluid lactate levels in a few case of the disease. 7 Calcium and other mineral deposits were found in the walls of capillaries, arterioles, and small veins and in perivascular spaces. Pathological studies show that calcium is the major element present.…”

“…These conditions have been suggested to be caused by cortico-subcortical disconnection mediated by the basal ganglia, especially involving the frontostriatal and limbic circuits. 7 The main neurological manifestations of FD include motor disorders such as parkinsonism, dystonia, tics, speech alterations, epilepsia (with new onset generalised tonic clonic seizures) and motor deficits, which are probably due to involvement of the frontostriatal motor system. 7…”

“…9 The most common radiologic feature of FD is the presence of bilateral intracranial calcifications which are usually seen in the globus pallidus, but may also affect the putamen, caudate nucleus, thalamus, dentate nucleus and white matter of the cerebral hemispheres. 7 The appearance of calcifications on magnetic resonance imaging (MRI) is non-specific. 10 It has been suggested that the unusual hyperintense T2-weighted images seen on MRI may reflect a slowly progressive metabolic or inflammatory process in the brain, which subsequently calcifies.…”

“…These conditions include endocrinopathies (hypothyroidism, hypogonadotrophic hypogonadism), systemic diseases (systemic scleroderma, systemic lupus erythematosus), infections (toxoplasmosis, neurocysticercosis, German measles, neurobrucellosis, HIV), primary or secondary calcified brain tumors, and various diseases such as tuberous sclerosis, mitochondrial encephalopathy, myotonic muscle dystrophy, measles and smallpox encephalitis, post-anoxia disorders, phacomatosis, Cockayne syndrome, neonatal anoxia, idiopathic hemochromatosis, heavy metal and carbon monoxide intoxication, treatment with methotrexate, and radiotherapy. 7 These diseases cause bilateral and non-symmetric cerebral calcifications mainly located in the basal ganglia and cerebellum. Huntington's chorea, Wilson's disease, oligodendroglioma, low-grade astrocytoma and Binswinger disease should be considered in young patients who present predominantly with movement disorders.…”