Risk Factor Predictors for Developing Epilepsy in Cerebral Palsy Patients in a Tertiary Hospital in Saudi Arabia: A Retrospective Study.

Background Cerebral palsy (CP) is a major cause of childhood motor impairment worldwide. The prevalence of CP related to preterm births has increased consistently. Perinatal hypoxic-ischemic encephalopathy, intra- or periventricular haemorrhage, cerebral dysgenesis and intracranial infections are among the factors contributing to CP onset. Several studies have explored epilepsy-related morbidity among children with CP, finding notable correlations between the two conditions. Worldwide, there are multiple studies highlighting the high prevalence of epilepsy among children with CP and its association with specific CP subtypes and neurologic insults. However, research on the risk factors for epilepsy in CP children is limited, particularly in the Middle East and Saudi Arabia. Aim This study aims to address this gap by analysing potential prenatal, antenatal, and postnatal risk factors associated with epilepsy development in children with CP. Methods A retrospective cohort analysis of 152 children aged 1-14 years diagnosed with CP at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, was conducted. Results The study showed a significant prevalence of epilepsy (68.4%), with generalised seizures being the most common type. Quadriplegia was notably common among CP children with epilepsy, indicating a potential correlation between motor impairment severity and epilepsy risk. Furthermore, CP children with epilepsy exhibited a higher prevalence of co-morbidities, emphasising the multifaceted nature of this condition. Perinatal and neonatal factors, such as hypoxic events, mechanical ventilation, perinatal asphyxia, neonatal convulsions, and microcephaly, were identified as significant risk factors for epilepsy in children with CP. While speech and hearing disorders were present in CP children with and without epilepsy, a slightly higher prevalence of impaired speech was observed in those with epilepsy. However, the difference between the two groups was not significant. Conclusion This study provides valuable insights into the epidemiology, clinical characteristics and potential risk factors associated with epilepsy among children diagnosed with CP in Saudi Arabia. The findings underscore the complexity of managing epilepsy in this population and highlight the need for further research to elucidate the underlying mechanisms and support the development of targeted interventions to improve patient outcomes.

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.

Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder of resistance to aldosterone and presents with hyponatremia, hyperkalemia, and metabolic acidosis. Cohen syndrome (CS) is another rare inherited disease. Concurrent presentation with pseudohypoaldosteronism makes it so extraordinary and implies more challenges for clinicians. We report a case of a female with Cohen syndrome (novel mutation) and systemic pseudohypoaldosteronism, as well as the challenges we have encountered in the management of this patient.

Pediculosis Is a Risk Factor for Iron Deficiency Anaemia.

Pediculosis capitis is obligate ectoparasite that lives and feeds on host blood, affecting commonly children. Lice are transmitted easily and respond to topical treatment with good personal hygiene. Chronic infestation can lead to different complications such as bacterial infection dermatitis and anaemia. Haematological complications are not reported frequently. We report a case series of five patients presented with a clear manifestation of anaemia with heavy lice infestation. Laboratory evaluation revealed microcytic hypochromic anaemia (red blood cell indices) with low serum iron levels and other causes that were excluded. All patients who were admitted received blood transfusions. There was not a possible explanation for this severe anaemia other than head lice.

Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report.

Allgrove syndrome or Triple-A syndrome is a triad of achalasia, alacrimia, and adrenal insufficiency. It is a rare disease that's only described in the literature with no known incidence rate. Atypical presentation of some cases is rarely seen, especially with monotonous symptoms. We are describing an early age of presentation with dual symptoms of Allgrove Syndrome than the triplet with novel homozygous variant at c.885G>A in the AAAS gene.

Dilated Cardiomyopathy in Pediatric Crohn's Patient: Is It a Manifestation or Consequence of Therapy?

Inflammatory bowel disease (IBD) is a debilitating chronic disorder that is classified into Crohn's disease, ulcerative colitis, and unspecified which are marked by recurrent gastrointestinal inflammatory episodes. Anti-tumor necrosis agents, especially infliximab, are considered the cornerstone in disease management. However, rare but serious adverse effects related to infliximab have been reported. Limited studies reported cardiac adverse effects as a result of using infliximab in IBD especially in the pediatric age group. Here, we report a case of an 11-year-old boy known to have Crohn's disease, who was on a regular infusion of infliximab at a monthly basis which developed dilated cardiomyopathy with severe depression of myocardial function.

Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl.

Microcephalic primordial dwarfism is a group of disorders that result in growth restriction and multiple morbidities. The condition is subdivided into three categories, with microcephalic osteodysplastic primordial dwarfism type II (MOPDII) being the most prevalent. Globally, only a few cases have been reported, with only available information about these disorders described in the literature. In this case report, we present the clinical findings seen in an infant with MOPDII in Saudi Arabia with associated glucose-6-phosphate dehydrogenase deficiency hemolytic anemia.

Liver Abscesses as a Sign of Chronic Granulomatous Disease in Adolescent.

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disease caused by a genetic defect in the nicotinamide adenine dinucleotide phosphate oxidase (NADPH) complex that affects phagocytes. This leads to recurrent severe bacterial and fungal infections manifested by recurrent pneumonia, also involving soft tissue, bones, and liver. Usually, CGD is presented and diagnosed in the first five years of life. In this case report, we describe a late presentation in an adolescent with multiple liver abscesses, the approach of diagnosis, and management.

Kawasaki Disease Shock Syndrome in the Eastern Region of Saudi Arabia: Case Series.

Kawasaki disease (KD) is a treatable medium-sized vasculitis in the pediatric population consisting of a myriad of specific signs and symptoms. A new entity of the disease, Kawasaki disease shock syndrome (KDSS), is defined as a KD patient presenting with signs of hypoperfusion. Our aim is to describe the signs and symptoms of KDSS and how it is treated and its consequences. Out of 37 patients diagnosed with KD in the period between January 2018 and December 2019 in hospitalized patients younger than 14 years of age at Maternity and Children's Hospital in Al-Hassa, Eastern Province, Saudi Arabia, 3 (8.10%) patients fulfilled the diagnostic criteria for KDSS: 2 (66%) were male and 1 (33%) was female. The cardinal feature in all of them was peripheral cardiovascular collapse. Two patients (66%) were found to have aseptic meningitis. All patients were treated with immunomodulatory agents (intravenous immunoglobulin) and all responded well to anti-inflammatory doses of aspirin. KDSS is the shock state of KD presenting with hypoperfusion symptoms, mainly irritability and changes in the level of consciousness and peripheral cardiovascular collapse. Awareness of such presentation and management by immunomodulatory medications helps in recovery and prevention of tragic consequences of such disease.

A2B Blood Group Without Anti-A1 Lectin Antibodies in a Child With an Enzymopathy Hemolytic Disease.

Generally, within the ABO blood group system, the AB group is subdivided into two subtypes, A1B and A2B, with the A2B subtype considered to be the rarest and the A1B subtype the most common. Given that the A2B subtype is the rarest one, its presence is associated with many challenges. In this report, we present the case of a child with a chronic hemolytic disease with the A2B blood group but without anti-A1 lectin antibodies, as well as the challenges encountered.

Microcytic Anemia Hiding Vitamin B12 Deficiency Anemia.

Vitamin B12 is an essential water-soluble vitamin that mediates multiple coenzymes needed for cell synthesis, mainly the red blood cells. Its deficiency is characterized by megaloblastic anemia and neuropsychiatric symptoms. Macrocytosis is the classical picture seen usually, but having microcytosis is unlikely. We report a case series of three cousins with vitamin B12 deficiency who presented with microcytosis.

Multisystem Inflammatory Syndrome in Children, the Real Disease of COVID-19 in Pediatrics - A Multicenter Case Series From Al-Ahsa, Saudi Arabia.

Fortunately, coronavirus disease 2019 (COVID-19) infection in pediatric populations exhibits a mild course of disease. However, a small number have recently been identified who develop a significant systemic inflammatory response, a new disease entity called multisystem inflammatory syndrome in children (MIS-C), especially after the peak of the wave in Al-Ahsa, Saudi Arabia, in early June to mid-July. In MIS-C children usually present a few days to a few weeks after recovery from COVID-19 with high grade fever, GI symptoms, Kawasaki-like picture or even toxic shock-like syndrome. Raising awareness about this disease entity is very fundamental to enable pediatricians and other health care providers to identify and manage these patients before it is too late. We describe 10 different cases of MIS-C with different risk factors and presentations.

Multisystem Inflammatory Syndrome in Children Temporally Related to COVID-19: A Case Report From Saudi Arabia.

The World Health Organization is still revising the epidemiology of multi-system inflammatory syndrome in children (MIS-C) and the preliminary case definition, although there is a dearth of robust evidence regarding the clinical presentations, severity, and outcomes. Researchers, epidemiologists, and clinicians are struggling to characterize and describe the disease phenomenon while taking care of the diseased persons at the forefronts. This report tackles the first case of a 13-year-old Saudi female with the MIS-C mimicking Kawasaki disease. Her main manifestations were fever, gastrointestinal symptoms, evidence of organ failure with an increase in inflammatory markers, and a history of coronavirus disease (COVID-19) infection. She had glucose-6-phosphate dehydrogenase (G6PD) deficiency and no significant previous history of any disease. She presented with signs of acute illness: high-grade fever (39.6°C) for five days accompanied by sore throat, malaise, reduced oral intake, abdominal pain, diarrhea, skin rash, bilateral non-suppurative conjunctivitis, and erythematous, cracked lips. Eventually, she died despite aggressive management based on the Centers for Disease Control and Prevention and the Saudi Ministry of Health guidelines for COVID-19 management. Based on this case, we suggest that pediatricians need to be aware of such atypical presentations and early referral to tertiary care is imperative for further early diagnosis and management. MIS-C is a rare yet severe and highly critical complication of COVID-19 infection in pediatrics, leading to serious and life-threatening illnesses. Knowledge about the wide spectrum of presenting signs and symptoms and disease severity, including early detection and treatment, is pivotal to prevent a tragic outcome.

Type 2 diabetes associated variants of KCNQ1 strongly confer the risk of cardiovascular disease among the Saudi Arabian population.

Genome-wide association studies have identified several loci associated with an increased risk for cardiovascular disease (CVD) and type 2 diabetes (T2D). Polymorphisms within the KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) gene are consistently associated with T2D in a number of populations. The current study was undertaken to evaluate the association of 3 polymorphisms of KCNQ1 (rs2237892, rs151290 and rs2237895) with T2D and/or CVD. Patients diagnosed with either T2D (320 patients), CVD (250 patients) or both (60 patients) and 516 healthy controls were genotyped by TaqMan assay run on a real time PCR thermocycler. A statistically significant association was found for SNPs rs151290 (OR = 1.76; 95%CI = 1.02-3.05; p = 0.0435) and rs2237895 (OR = 2.49; 95%CI = 1.72-3.61; p < 0.0001) with CVD. SNP rs151290 (OR = 7.43; 95%CI = 1.00-55.22; p = 0.0499) showed a strong association in patients with both T2D and CVD. None of the SNPs showed any significant association with T2D. Haploview analysis showed that the ACC (rs151290, rs2237892 and rs2237895) haplotype is the most significant risk allele combination for CVD, while CCA is the most significant risk haplotype for co-morbidity with T2D. KCNQ1 polymorphism at SNPs rs151290 and rs2237895 is strongly associated with CVD in this population, but presented no association with T2D.

Type 2 diabetes associated variants of KCNQ1 strongly confer the risk of cardiovascular disease among the Saudi Arabian population

Abstract Genome-wide association studies have identified several loci associated with an increased risk for cardiovascular disease (CVD) and type 2 diabetes (T2D). Polymorphisms within the KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) gene are consistently associated with T2D in a number of populations. The current study was undertaken to evaluate the association of 3 polymorphisms of KCNQ1 (rs2237892, rs151290 and rs2237895) with T2D and/or CVD. Patients diagnosed with either T2D (320 patients), CVD (250 patients) or both (60 patients) and 516 healthy controls were genotyped by TaqMan assay run on a real time PCR thermocycler. A statistically significant association was found for SNPs rs151290 (OR = 1.76; 95%CI = 1.02-3.05; p = 0.0435) and rs2237895 (OR = 2.49; 95%CI = 1.72-3.61; p < 0.0001) with CVD. SNP rs151290 (OR = 7.43; 95%CI = 1.00-55.22; p = 0.0499) showed a strong association in patients with both T2D and CVD. None of the SNPs showed any significant association with T2D. Haploview analysis showed that the ACC (rs151290, rs2237892 and rs2237895) haplotype is the most significant risk allele combination for CVD, while CCA is the most significant risk haplotype for co-morbidity with T2D. KCNQ1 polymorphism at SNPs rs151290 and rs2237895 is strongly associated with CVD in this population, but presented no association with T2D.