Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Background: POLIII-related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype. No Tunisian studies have been published about POLIII-related leukodystrophy due to POLR3A variants. The aim of this study was to contribute to the clinical, radiological, and genetic characterization of POLR3A-related leukodystrophy in a Tunisian cohort.

Imaging findings in abusive head trauma (AHT).

Brain imaging plays a key role in accurately identifying abusive head trauma (AHT). An exact and rapid diagnosis is needed due to the extreme severity of AHT, since there is a risk of neurological sequelae and potentially fatal recurrence. Several medical specialists will work collaboratively to detect and confirm abuse in children: the radiologist has a leading role in this approach.

Acquired pial arteriovenous fistula secondary to cerebral cortical vein thrombosis: A case report and review of the literature.

Pial arteriovenous fistulas (AVFs) are rare neurovascular malformations. They differ from arteriovenous malformations (AVMs) in that they involve single or multiple feeding arteries, draining directly into a dilated cortical vein with no intervening nidus. Pial and dural AVFs differ in blood supply, as the first originate from pial or cortical arteries and the latter from outside the dural leaflets.