Outcomes of resective surgery in pediatric patients with drug-resistant epilepsy: A single-center study from the Eastern Mediterranean Region.

Objective: Epilepsy surgery is widely accepted as an effective therapeutic option for carefully selected patients with drug-resistant epilepsy (DRE). There is limited data on the outcome of epilepsy surgery, especially in pediatric patients from the Eastern Mediterranean region. Hence, we performed a retrospective study examining the outcomes of resective surgery in 53 pediatric patients with focal DRE.

Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.

Background: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes ( MLH1 , MSH2 , MSH6 and PMS2 ). In addition to colorectal, brain, and hematological malignancies, many additional premalignant and non-malignant features that can point toward the diagnosis of CMMRD have been reported. The report from the CMMRD consortium revealed that all children with CMMRD have café-au-lait macules (CALMs) but the number of CALMs does not reach > 5 in all CMMRD patients, which is one of the diagnostic criterions of NF1.

Invasive aspergillosis of the central nervous system in immunocompetent patients in Saudi Arabia: Case series and review of the literature.

Objective: Invasive aspergillosis of the central nervous system in immunocompetent patients is a rare disease. We present in this study three cases that were treated in our centre and reviewed the results of similar studies from Saudi Arabia.

Methods: We retrospectively reviewed all cases of invasive aspergillosis of the central nervous system (CNS) that were treated in our hospital in the last 10 years.

Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report.

MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur in the first year of life. Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy. The serine active site-containing 1 (SERAC1) mutation is localized at the mitochondria-associated membranes, which are responsible for encoding a phosphatidylglycerol remodeler essential for both mitochondrial function and intracellular cholesterol trafficking and is thus responsible for the disease.

Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature.

Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly.

Rare otologic presentation of cat eye syndrome.

We encountered an extremely rare case where a patient with cat eye syndrome (CES) who presented with symptoms of posterior semicircular canal dehiscence (PSCD). CES is a rare genetic disorder, resulting from duplication of chromosome 22. Patients may present with variable phenotypes, including characteristic of coloboma, heart defect, periauricular skin pit/tag, microtia, anal atresia and mildly retarded mental development in some cases.

Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.

Objective: EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy.

Magnetic Resonance Myelography in Congenital Absence of the Cervical Pedicle.

Absence of the cervical pedicle is a very rare congenital anomaly, easily misrecognized as a unilateral facet dislocation in a setting of acute trauma or a neoplastic process like a nerve sheath tumor. Although correct diagnosis can be achieved on the cervical radiograph and confirmed by the CT, MRI Myelography is clearly of additional value because shows the specific relationship and orientation of the nerve roots. To the best to our knowledge, this is the first description of MR Myelography findings.

Postoperative diffusion weighted MRI and preoperative CT scan fusion for residual cholesteatoma localization.

Objective: To evaluate the ability of preoperative mastoid high resolution Computerized tomography (CT Scan) fusion with the postoperative diffusion weighted magnetic resonance imaging (Non-EPI DWI) to accurately localize the residual cholesteatoma thus sparing an unnecessary postoperative CT scan radiation.

Patients And Methods: this is a prospective study performed in our tertiary care center. We followed up prospectively a consecutive group of patients presenting with middle ear cholesteatoma using preoperative mastoid CT scans, postoperative mastoid CT scan and mastoid diffusion weighted MRI (DWI) between 2012 and 2013.