The Response of Synthetic Adrenocorticotropic Hormone (ACTH) Treatment in Pediatric Drug-Resistant Epilepsy Other Than Infantile Epileptic Spasms Syndrome: A Retrospective Observational Study.

Introduction:  Adrenocorticotropic hormone (ACTH) is a tropic hormone naturally secreted by the anterior pituitary gland to stimulate the secretion of cortisol and androgens. ACTH is used in non-tuberous sclerosis infantile epileptic spasms syndrome (IESS), and it has shown significant, promising results in epilepsy syndromes with possible inflammatory processes. However, many studies have also demonstrated a promising potential even in other types of drug-resistant epilepsy.

Neonatal seizures: Etiologies, clinical characteristics, and radiological features: A cross-sectional study.

Seizures are a common clinical indication of central nervous system damage or abnormality in neonates. We aimed to identify the etiologies, clinical characteristics, and radiological features of neonatal seizures. This is a cross-sectional, retrospective, descriptive study using data obtained from the neonatal intensive care unit in King Abdulaziz Medical City (KAMC), a governmental, academic tertiary hospital in Riyadh, Saudi Arabia.

The Prevalence of Active Epilepsy in the Kingdom of Saudi Arabia: A Cross-Sectional Study.

Introduction: The global prevalence of active epilepsy is around 6.38/1,000 persons. In the Arabian region, the median prevalence of active epilepsy is 4.

Perspectives of the Key Stakeholders of the Alignment and Integration of the SaudiMEDs Framework into the Saudi Medical Licensure Examination: A Qualitative Study.

Purpose: The purpose of the Saudi Medical Education Directives Framework (SaudiMEDs) is to assure the essential level of competencies for medical graduates, which should be reflected in the Saudi Medical Licensure Examination (SMLE). This study explored the opinions of key stakeholders of the alignment and integration of the SMLE's blueprint and contents with the SaudiMEDs competency framework's themes and domains.

Participants And Methods: This was a qualitative case study, using a purposive sampling technique.

Moyamoya Disease in a 13-Month-Old Middle Eastern Boy.

Moyamoya disease (MMD) is a rare, chronic cerebrovascular disease affecting the cerebral arteries, leading to the development of unique collateral vessels. Few cases were reported from Saudi Arabia; however, the incidence rate is not well-defined. Hence, we present a case of a 13-month-old child who presented to the emergency room with first onset focal seizures with relatively unremarkable past medical and family history.

Mutated Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish.

Von Willebrand A domain-containing protein 8 (), also named KIAA0564, is a poorly characterized, mitochondrial matrix-targeted protein having a putative ATPase activity. is comprising of ATPase-associated domains and a VWFA domain associated with ATPase activity inside the cell. In the present study, we describe a large consanguineous family of Saudi origin segregating a complex developmental syndrome in an autosomal recessive fashion.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common. Thirty disorders were included by the Global Leukodystrophy Initiative Consortium (GLIA) as LDs.

Utilization of Complementary Medicine by Pediatric Neurology Patients and Their Families in Saudi Arabia.

Introduction Complementary medicine (CM) consumption is a common practice worldwide. The objective of this study is to find the prevalence of parents visiting the neurology clinic who utilize CM to treat their children. Methods This is a cross-sectional study that was done at King Abdullah Specialized Children Hospital (KASCH), Riyadh, Saudi Arabia between 2018 and 2019.

The comorbidity of headaches in pediatric epilepsy patients: How common and what types?

Objective: To estimate the prevalence and characteristics of headache in pediatric epileptic patients.

Methods: This cross-sectional study was performed over 6 months period from January 2018 to June 2018 at King Abdullah Specialist Children Hospital, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia using a structured questionnaire in pediatric patients with epilepsy.

Results: There were 142 patients enrolled (males, 57.

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement.

Current management of Duchenne muscular dystrophy in the Middle East: expert report.

Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to address different aspects of the current management of DMD in the Middle East, north Africa (MENA) region, and to gather experts' recommendations on how to optimally diagnose and treat patients suffering from this disease. A group of experts (neuromuscular medicine, neuropediatricians and geneticists) convened to discuss the diagnosis and management of DMD in the MENA region.

Prevalence and outcomes of Guillain-Barré syndrome among pediatrics in Saudi Arabia: a 10-year retrospective study.

Background: Guillain-Barré syndrome (GBS) is a progressive acute form of paralysis most probably secondary to an immune-mediated process. GBS among Saudis has been seldom investigated, which leaves both clinicians and researchers with scarcity in knowledge. Therefore, this study aims to assess the prevalence and clinical prognosis of GBS among pediatrics admitted with acute paralysis at a large healthcare facility in Riyadh, Saudi Arabia.

Teaching clinical reasoning through hypothetico-deduction is (slightly) better than self-explanation in tutorial groups: An experimental study.

Background: Self-explanation while individually diagnosing clinical cases has proved to be an effective instructional approach for teaching clinical reasoning. The present study compared the effects on diagnostic performance of self-explanation in small groups with the more commonly used hypothetico-deductive approach.

Methods: Second-year students from a six-year medical school in Saudi Arabia (39 males; 49 females) worked in small groups on seven clinical vignettes (four criterion cases representing cardiovascular diseases and three 'fillers', i.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis lead to multiple mitochondrial dysfunction syndromes including: ISCA2 with infantile onset leukodystrophy.

High school versus graduate entry in a Saudi medical school - is there any difference in academic performance and professionalism lapses?

Background: King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) was the first university in the Kingdom of Saudi Arabia offering both high school entry and graduate entry (GE) students into medical school. We compared the academic performance and professionalism lapses of high school entry and GE students who undertook the same curriculum and examinations in the College of Medicine, Riyadh, KSAU-HS.

Methods: Examination scores of 196 high school graduates and 54 GE students over a 4-year period (2010-2014) were used as a measure of academic achievement.

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings.

Early-Onset Parkinsonism: Case Report and Review of the Literature.

Background: Early-onset parkinsonism can be caused by PTEN-induced putative kinase 1 (PINK1) gene defects and is usually characterized by an age of onset in the fourth decade of life, slow disease progression, resting tremor, rigidity, bradykinesia, postural instability, and levodopa-induced dyskinesia.

Methods: We evaluated a child with early-onset symptoms and performed a literature review for previously reported examples of children aged 18 years or less with PINK1 gene defects.

Results: We describe a five-year-old boy with autosomal recessive early-onset parkinsonism caused by a homozygous missense mutation in the PINK1 gene.

Cerebral sinus venous thrombosis in a child with nephrotic syndrome.

Cerebral venous thrombosis (CVT) as a complication in children with nephrotic syndrome is rarely reported. Although clinical characteristics are increasingly recognized, therapeutic management and clinical outcomes are not well documented. This case report presents a 10-year-old female who presented with dehydration associated with headache and decreased level of consciousness, which required intubation.

Prevalence and prediction of abnormal CT scan in pediatric patients presenting with a first seizure.

Objective: To estimate the prevalence of abnormal neuroimaging in children presenting to the emergency department (ED) with a new-onset seizure, and to identify the significant clinical predictors for an abnormal CT scan.

Methods: In this cross-sectional study, all children age 12 or younger, admitted to the ED at King Abdulaziz Medical City (KAMC) in Riyadh, Kingdom of Saudi Arabia, between January 2005 and December 2010, with a first seizure clinically suspected of neurological condition, and a CT scan before discharge from the ED (N=124), were identified through a chart review. The charts for all patients with abnormal neuroimaging were reviewed for patient characteristics, seizure characteristics, and neuroimaging results.

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral disturbances. Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.