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.

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.

Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain.

Management of a recurrence of a squamous cell carcinoma of the scalp with extension to the brain: A case report and literature review.

Background: Squamous cell carcinoma (SCC) is the most common form of nonmelanoma skin cancer after basal cell carcinoma. Simple excision can be the treatment at early stages of diagnosis. However, at late stages, treatment is more complex due to extension to the skull and the dura.

Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

Introduction: RNA polymerase III (Pol III)-related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A and POLR3B. Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified.

Methods: We report the case of a Tunisian girl of 14 years of age who was referred to our department for evaluation of progressive ataxia that began at the age of 5.

Intracranial grade I meningiomas: Confrontation between histological examination and magnetic resonance imaging.

Introduction: Meningiomas are tumors derived from arachnoid cells. More than 90% of cases have a benign clinical course and are classified as grade I according to the World Health Organization. A confrontation between radiologic findings and pathological examination is necessary to predict the grading of meningiomas.

Pediatric Intracranial Anaplastic Gangliogliomas: Illustrative Case and Systematic Review.

Objective: We present an illustrative case of pediatric intracranial anaplastic ganglioglioma and systematically reviewed the current reported data of anaplastic ganglioglioma in the pediatric population.

Methods: A comprehensive literature search for our review was conducted using PubMed, Scopus, Web of Science, PsycINFO, Cochrane, and Embase databases. The search terms included "ganglioglioma," "anaplastic," "pediatrics," "children," and "intracranial.

Progressive cerebellar degeneration revealing Primary Sjögren Syndrome: a case report.

Background: Cerebellar ataxia represents a rare and severe complication of Sjӧgren syndrome (SS), especially with a progressive onset and cerebellar atrophy on imaging.

Case Presentation: We report the case of a 30-year-old woman, with a past history of dry eyes and mouth, who presented a severe cerebellar ataxia worsening over 4 years associated with tremor of the limbs and the head. Brain MRI showed bilateral hyperintensities on T2 and FLAIR sequences, affecting periventricular white matter, with marked cerebellar atrophy.

Cerebral Venous Thrombosis: A Tunisian Monocenter Study on 160 Patients.

Objective: Data regarding cerebral venous thrombosis in North Africa are scarce. This study aims to identify the clinical features, risk factors, outcome, and prognosis of cerebral venous thrombosis in Tunisia.

Methods: Data of 160 patients with radiologically confirmed cerebral venous thrombosis, hospitalized in Mongi Ben Hmida National Institute of Neurology (Tunis, Tunisia), were retrospectively collected and analyzed.

Mirror movements and myelomeningocele: report of a single case and review of literature.

Mirror movements (MM) have been described in several pathological conditions. Their association with neural tube defects is rare, and only 5 cases have been reported in literature to date. We report on a case of MM associated with cervical myelomeningocele, and we discuss the diffusion tensor imaging findings and the underlying mechanism.

Periosteal chondrosarcoma.

Objective: The purpose of this article is to identify the typical imaging features of periosteal chondrosarcoma on radiography, CT, and MRI.

Conclusion: Periosteal chondrosarcoma is a rare low-grade malignant cartilaginous tumor arising from the external surface of bone. Imaging features are often specific.

Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up.

Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed.

[Spiral computed tomographic (CT) arthrography versus arthroscopy in internal derangements of the knee].

Background: The spiral computed tomographic (CT) arthrography of the knee represents an alternative for MRI in the diagnosis of intraarticular lesions of the knee.

Methods: We compared, in our retrospective study relates to fifty knees presenting meniscal or anterior cruciate ligament or cartilage lesions, the data of spiral computed tomographic (CT) arthrography and arthroscopy taken as "Gold Standard". The purpose was to determine the reliability of the spiral CT arthrography in the diagnosis of intraarticular derangements of the knee.