The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

Background: Carbonic anhydrase type II deficiency (CAII-D) syndrome is a rare autosomal recessive genetic disorder characterized by osteopetrosis, renal tubular acidosis, and brain calcifications. Understanding the clinical and radiological features of CAII-D is key to effective management.

Aim: This study aimed to comprehensively analyze and measure intracranial parenchymal calcium score in pediatric CAII-D in relation to the severity of neurological clinical presentation.

Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.

Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic presentations.

Methods: A retrospective chart review was conducted among children presented with epilepsy in one center in Saudi Arabia between 2015 and 2018.

Syncopal attacks in children: Is it cardiac or epilepsy related?

Background: Transient loss of consciousness (TLOC) may be mistaken for other disorders like epilepsy. Our objectives were to identify symptoms that could help differentiate epilepsy from syncope among children with TLOC and to validate previously suggested criteria.

Methods: We retrospectively reviewed the charts of patients aged 18 years or younger who presented with TLOC attacks from January 2008 to December 2018 at King Saud University Medical City, Riyadh, Saudi Arabia.

The impact of vitamin D food fortification and health outcomes in children: a systematic review and meta-regression.

Objective: Vitamin D (vitD) deficiency is a global childhood health problem. Food fortification is a promising strategy to curb vitD deficiency. We aimed to assess the effectiveness of utilizing vitD fortification in staple foods to improve 25hydroxyvitamin D (25(OH)D) concentration and to reduce the prevalence of vitD deficiency among healthy children.

A journey from being preterm to pediatric neurology.

This article highlights the story of two pediatric neurology residents (identical twin sisters Rana and Rawan) who work at the Division of Pediatric Neurology, Department of Pediatrics, College of Medicine and King Khalid University Hospital (KKUH), King Saud University, Riyadh, Saudi Arabia. They were born in October 1990 in the same hospital (KKUH), following preterm delivery at 33 weeks. Their birth weight was 2,000 and 1,900 g, respectively.

Validity and feasibility of the Arabic version of distress thermometer for Saudi cancer patients.

Background: The distress thermometer (DT) has been studied and validated as an effective screening instrument for identifying distress among cancer patients worldwide. This study aims to evaluate the validity of the Arabic version of the DT in Saudi cancer patients, to define the optimal cutoff point of the Arabic DT for detecting clinically significant distress and to determine whether there is any correlation between clinically significant distress and other demographic and Problem List variables.

Methods: The original form of the DT was translated to Arabic using a forward and backward translation method.