Case presentation: Young male, 17 years old, born in Rio de Janeiro, with a history of global developmental delay and neuroimaging leukoencephalopathy. Basic screening for inborn errors metabolism, ophthalmoscopy electroneuromyography did not show any changes. Specific enzyme measurements performed during diagnostic investigation excluded leukodystrophies Tay-Sachs as possible etiologies. The p...

We analyzed computerized tomography (CT) findings in six patients with Fahr's syndrome. They presented calcifications in basal ganglia, dentate nucleus, subcortical region and semioval center, due to alteration in calcium metabolism or due to senile relative hypoxemic state. The image pattern was not strictly related with etiology, although some differences in dystrophic senile calcifications (...

Abstract Background and aim Intracranial calcifications (ICs) occur when metals such as calcium or iron accumulate in blood vessels, glands other structures related to the brain. They can be physiological pathological. Currently, most sensitive method for imaging IC is cranial computed tomography (CT). The of this retrospective study was evaluate ICs co-existence them by CT. Patients methods 1,...

Fahr’s disease is a rare sporadic or inherited neurodegenerative disorder characterized by symmetrical bilateral calcifications in the basal ganglia and some other brain structures – dentate nucleus, thalamus, cerebral cortex, subcortical white matter, and hippocampus. We report a patient with Fahr’s disease who was monitored for 11 years. The case is of interest for clinical practice because o...

Hypoparathyroidism is the most common cause of symmetric calcification of the basal ganglia. Herein, a case of primary hypoparathyroidism with severe tetany, rhabdomyolysis, and acute kidney injury is presented. A 26-year-old male was admitted to the emergency clinic with leg pain and cramps, nausea, vomiting, and decreased amount of urine. He had been treated for epilepsy for the last 10 years...

A 42-year-old woman was admitted for a complex partial seizure. At age 18 years, she had transient diplopia, which was considered a simple strabismus. Current examination revealed a left VI cranial nerve palsy and right arm hyperreflexia. Neuroimaging showed multiple intraparenchymal cystic lesions in white matter (figure), multiple calcifications in basal ganglia, and extensive bilateral leuko...

Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological sig...

Oculodentodigital dysplasia (ODDD) [MIM 164200] is a rare disorder caused by mutations in the gap junction alpha 1 (GJA1) gene encoding for connexin 43 (Cx43). Typical signs include type III syndactyly, microphtalmia, microdontia, and neurological disturbances. We report a 59-year-old man having clinical symptoms and signs suggestive of ODDD, with some rarely reported features, that is the pres...

traumatic basal ganglia hematoma is a rare condition defined as presence of hemorrhagic lesions in basal ganglia or adjacent structures suchas internal capsule, putamen and thalamus. bilateral basal ganglia hematoma are among the devastating and rare condition. we herein report a 28-year old man, a victim of car-car accident who was brought to our surgical emergency room by immediate loss of co...

Fahr’s disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, cognitive decline. Genes implicated in PDGFB , PDGFRB SLC20A2 XPR1 MYORG JAM2 . We present case 51-year-old woman who developed subac...