Mycoplasma pneumoniae-Triggered Guillain-Barré Syndrome in Children: Two Case Reports of Different ICU Presentations.

Guillain-Barré syndrome (GBS) is an acute immune-mediated polyneuropathy with diverse clinical presentations. Mycoplasma pneumoniae has been increasingly recognized as a potential trigger, particularly in pediatric cases. This case report presents two atypical cases of M.

Evaluation of clinical characters and use of alternative medicines in the management of headache and predictors of treatment satisfaction among Saudi adults - A community-based study in Saudi Arabia.

Background And Objective: The use of alternative medicine (AM) is rising globally. Hence this study aimed to assess the Use of and Satisfaction with Alternative Medicine in the management of headache and Related Factors in Individuals, living in Saudi Arabia.

Methods: A cross-sectional study was conducted from July to December 2023 using an online questionnaire in Riyadh Saudi Arabia.

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.

Background: Brown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of presentation, and it is characterized by progressive auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise secondary to diaphragmatic and vocal cord paralysis. BVVL syndrome has a poor prognosis in the absence of treatment, including morbidity with quadriparesis and sensorineural hearing loss, with mortality in the younger age group.

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.

Background: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population.

Methods: A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022.

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.

Compound heterozygous mutations in SHQ1 have been associated with a rare and severe neurological disorder characterized by global developmental delay (GDD), cerebellar degeneration coupled with seizures, and early-onset dystonia. Currently, only five affected individuals have been documented in the literature. Here, we report three children from two unrelated families harboring a homozygous variant in the gene but with a milder phenotype than previously described.

Impact of Rural vs. Urban Residence on Survival Rates of Patients with Glioblastoma: A Tertiary Care Center Experience.

Purpose: Although the association between residential location and survival in patients with different cancer types has been established, the conclusions are contentious, and the underlying mechanisms remain unknown. Here, we reviewed the impact of residence on the survival of patients with glioblastoma (GBM). Methods: We conducted a retrospective study to compare the impact of rural and urban residence on the survival rates of patients with GBM diagnosed in Riyadh City and outside Riyadh.

Hereditary Hyperekplexia in Saudi Arabia.

Background: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity.

Methods: We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a standard questionnaire that was sent to nine major referral hospitals in Saudi Arabia.

Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center.

Purpose And Background: To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia.

Methods: This retrospective study reviewed the medical and EEG records of patients who were diagnosed to have CAE as per the International League Against Epilepsy (ILAE) definition for CAE. The study was conducted in the pediatric neurology clinic of King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia, between January 2000 and December 2019.

Efficacy and safety of corpus callosotomy versus vagus nerve stimulation as long-term adjunctive therapies in children with Lennox-Gastaut syndrome: Experience of a tertiary care center.

Objectives: To compare the efficacy and safety of corpus callosotomy versus vagus nerve stimulation (VNS) as long-term adjunctive therapies in children with Lennox-Gastaut syndrome.

Methods: This retrospective study was conducted in King Fahad Medical City between 2010 and 2019. The authors identified and followed 9 patients with Lennox-Gastaut syndrome (LGS) who underwent corpus callosotomy or VNS implantation for at least 12 months; seizure frequency and major complications were monitored.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects.

Management and Outcome of Post-Infectious Multiloculated Hydrocephalus: A Case Series.

Background And Importance: Infection following ventriculoperitoneal shunt (VPS) placement is a recognized complication, with variable incidence rates worldwide. Development of post-infectious multiloculated hydrocephalus (MLH) is likely if VPS infection is improperly managed, in turn affecting the prognosis. There is a lack of studies from Saudi Arabia regarding patients' functional outcome in relation to different variables.

Pattern of orthopedic injuries among Victims of Road Traffic Accidents in Aseer region, Saudi Arabia.

Background: Road Traffic Accidents (RTA) are one of the most common causes of morbidity and mortality in Saudi Arabia despite preventive measures and programs. The major factors for the increase in the incidence of mortality and morbidity are due to human factors, such as over speeding, not obeying traffic laws, fatigue, and driving before the legal age. In this study, we aim to report the pattern of orthopedic injuries (OIs) from RTA in the south-western region of Saudi Arabia and to explore the healthcare outcomes of OIs.

Reversible Cerebral Vasoconstriction Syndrome after Nifedipine Withdrawal.

Reversible cerebral vasoconstriction syndrome (RCVS) is an essential but often unrecognized cause of intracranial haemorrhage. While there are no specific causes of the syndrome, associations with many clinical conditions and drugs have been observed, and calcium channel blockers (CCBs) are often used to relieve the symptoms. This is a case of RCVS that was triggered by the sudden withdrawal of nifedipine, a CCB.

Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia.

Acute necrotizing encephalopathy of childhood (ANEC) is a rapidly progressing encephalopathy characterized by fever, depressed level of consciousness, and seizures. Diagnosis depends on clinical presentation and characteristic neuroimaging findings of abnormal signal intensity involving the thalami as well as the supra and infra-tentorial areas. Treatment modalities are not well-established; empirical treatment with antibiotics and antiviral agents is the initial step, followed by steroids and immunoglobulin, as well as supportive care.

The Correlation between Histopathology of Herniated Lumbar Intervertebral Disc and Clinical Findings.

Objective: Prolapsed lumbar disc is one of the most frequent diseases, which is usually presented by motor and sensory deficits. Consistency of herniated disc may play a significant role in surgical treatment and postoperative improvement. The objective of this study is to assess whether the histopathological degeneration in the sample of lumbar discs operated on is correlated to clinical variables and surgical outcomes.

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.

Purpose: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further delineate the ASNSD variant and phenotypic spectrum and determine the value of biochemical testing as a frontline investigation in ASNSD.

Predicting future handedness and hemispheric dominance during infancy by analyzing sleep spindles.

Objective: To investigate whether sleep spindles asynchrony (SSA) using scalp sleep electroencephalogram (EEG) among children below 2 years of age can predict future handedness.

Methods: This is a retrospective study conducted from October 2016 until June 2017 at the King Fahad Medical City (KFMC), Riyadh, Kingdom of Saudi Arabia. We retrospectively reviewed 300 EEGs recorded at our neurophysiology laboratory.

Seroprevalence of Human Cytomegalovirus in Pregnant Women in the Asir Region, Kingdom of Saudi Arabia.

Background: Human cytomegalovirus (HCMV) infection spreads easily by interpersonal contact.

Objective: This study determined the prevalence of seropositivity of cytomegalovirus immunoglobulin G (IgG) in the Asir Region, Kingdom of Saudi Arabia.

Methods: The study evaluated the seropositivity for cytomegalovirus-specific IgG in 460 females.

Pediatric intracranial hypertension. Experience from 2 Tertiary Centers.

Objective: To review the experience of 2 tertiary centers in Saudi Arabia with intracranial hypertension (IH) in the pediatric population.

Methods: We retrospectively reviewed and analyzed pediatric patients diagnosed with IH from June 2002 to May 2017 in 2 institutes.

Results: We identified 53 patients (30 females and 23 males) with a mean age of 7 years at the time of presentation.

The clinico-pathological profile of non-Hodgkin's lymphoma in Aseer region of Saudi Arabia.

Objective: Non-Hodgkin lymphomas (NHL) are a group of neoplastic lymphoproliferative disorders, in which, its clinical spectrum, primary extra nodal variety, histopathology and Immunohistochemistry, remain lacking in Saudi Arabia. We aimed to assess the clinicopathologic patterns of NHL and the utility and diagnostic role of IHC immunophenotyping.

Results: Patients > 60 years of age had the highest incidence of NHL; male: female ratio was 1.

Supratentorial Craniotomies with or without Dural Closure-A Comparison.

Background: Dural closure is a routine surgical step in neurosurgery. The benefit of suturing the dura to achieve watertight closure-with or without the use of dural substitutes-has been questioned in supratentorial craniotomy. We performed a retrospective study to examine the possible benefits and harms of suturing the dura compared with no dural closure and the occurrence of postoperative infection, cerebrospinal fluid (CSF) leak, and postcraniotomy headaches.

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

An increasing number of mitochondrial diseases are found to be caused by pathogenic variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes mitochondrial phenylalanyl-tRNA synthetase (mtPheRS) which transfers phenylalanine to its cognate tRNA in mitochondria. Since the first case was reported in 2012, a total of 21 subjects with FARS2 deficiency have been reported to date with a spectrum of disease severity that falls between two phenotypes; early onset epileptic encephalopathy and a less severe phenotype characterized by spastic paraplegia.

Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia.

Objective:: To increase the use of evidence-based approaches in the diagnosis, investigations and treatment of Convulsive Status Epilepticus (CSE) in children in relevant care settings.

Method:: A Clinical Practice Guideline (CPG) adaptation group was formulated at a university hospital in Riyadh. The group utilized 2 CPG validated tools including the ADAPTE method and the AGREE II instrument.