A rare case of autoimmune limbic encephalitis: an uncharted territory!

Autoimmune encephalitis is rare. Several auto- antibodies are described in autoimmune encephalitis. We describe a case of autoimmune limbic encephalitis associated with positive voltage gated potassium channel (VGKC) antibodies and positive leucine-rich glioma inactivated protein 1 antibodies (LGI1).

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

Background: Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy.

Methods: Retrospective review of the patient charts including their clinical evaluation and molecular genetic, neurodiagnostic, and neuroradiological investigations.

Molecular Diagnostic and Prognostic Subtyping of Gliomas in Tunisian Population.

It has become increasingly evident that morphologically similar gliomas may have distinct clinical phenotypes arising from diverse genetic signatures. To date, glial tumours from the Tunisian population have not been investigated. To address this, we correlated the clinico-pathology with molecular data of 110 gliomas by a combination of HM450K array, MLPA and TMA-IHC.

Meningeal Hemangiopericytomas and Meningomas: a Comparative Immunohistochemical and Genetic Study.

Background: The meningeal hemangiopericytoma (MHPC) is a vascular tumor arising from pericytes. Most intracranial MHPCs resemble meningiomas (MNGs) in their clinical presentation and histological features and may therefore be misdiagnosed, despite important differences in prognosis.

Materials And Methods: We report 8 cases of MHPC and 5 cases of MNG collected from 2007 to 2011 from the Neuro-Surgery and Histopathology departments.

Further Delineation of the ALG9-CDG Phenotype.

ALG9-CDG is one of the less frequently reported types of CDG. Here, we summarize the features of six patients with ALG9-CDG reported in the literature and report the features of four additional patients. The patients presented with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia.

Glioma epidemiology in the central Tunisian population: 1993-2012.

Background: Glioma is a heterogeneous central nervous system (CNS) tumor group that encompasses different histological subtypes with high variability in prognosis. The lesions account for almost 80% of primary malignant brain tumors. The aim of this study is to extend our understanding of the glioma epidemiology in the central Tunisian region.

Pilocytic astrocytoma: a retrospective study of 32 cases.

Pilocytic astrocytoma (PA) is a neoplasia which is considered as a grade I astrocytoma by the World Health Organization (WHO). Its most common location is the cerebellum and it develops during the first two decades of life. Prognosis is mostly excellent if gross-total resection can be achieved, with 10-year survival rates of up to 95%.

Infratentorial oligodendroglioma in a child: a case report and review of the literature.

Oligodendrogliomas are the tumors of normal glial cells of brain called oligodendrocytes. They represent a small proportion of childhood brain tumors and are infrequently encountered in the posterior fossa. CT scan and MRI are very helpful for the preoperative management of oligodendrogliomas.

Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings.

Rhombencephalosynapsis (RES) is a rare cerebellar malformation of unknown etiology characterized by vermal agenesis or hypogenesis, fusion of hemispheres and the dentate nuclei. Clinical presentation and prognosis are extremely variable and generally depends one the associated supratentorial anomalies. We report the first Tunisian case of RES diagnosed by magnetic resonance imaging (MRI) in a 3.

[Imaging of renal hydatid cyst based on a series of 41 cases].

Objectives: The authors present the various imaging features of renal hydatid cyst and define the place of the various imaging modalities.

Material And Methods: This retrospective study was based on 41 cases of renal hydatid cyst treated between 1989 and 2003, including 19 men and 22 women with a mean age of 32 years. KUB x-ray was performed in every case, ultrasound was performed in 39 cases, computed tomography (CT) was performed in 13 cases and MRI was performed in 3 cases.

[Urachal cyst in the adult. A case report and review of the literature].

Simple urachal cyst is a rare pathology in the adults. The diagnosis is rarely established clinically, it is based on ultra sonography and confirmed by anatomo-pathology. The authors report one case of urachal cyst in a 42-year-old patient who present bladder irritation symptom.

Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency.

We report two siblings with purine nucleoside phosphorylase deficiency revealed by isolated spastic paraplegia, whereas symptoms of immune deficiency did not become apparent until 3 years of age. As the concurrence of immunodeficiency and neurologic problems strongly suggests the diagnosis of purine nucleoside phosphorylase deficiency, special attention should be paid to counts of lymphocytes in any infant with spastic paraplegia.

Cerebellar symptoms heralding bilirubin encephalopathy in Crigler-Najjar syndrome.

Children with Crigler-Najjar syndrome type I are at increased risk for neurologic deficits. Cerebellar symptoms are not prominent and appear in adolescent or adult patients with this syndrome. We report a 2-year-old female with Crigler-Najjar syndrome type I who presented severe cerebellar symptoms revealing bilirubin encephalopathy.