COVID-19 infection prevalence in pediatric population: Etiology, clinical presentation, and outcome.

Novel COVID-19 infections caused major morbidity and mortality globally in the adult age group. Likewise, SARS-COV-2 infections in children are highly risky in the selected patient population. We performed a focused literature search of published reports from December 1, 2019, till August 20, 2020.

Practical guidelines for screening and treatment of retinopathy of prematurity in Saudi Arabia.

Retinopathy of Prematurity (ROP) is one of the leading causes of bilateral blindness in childhood. Early detection and effective treatment can prevent blindness. Efficient and timely screening examination of the retina by an experienced ophthalmologist who deals with preterm neonates with ROP is the mainstay in the management of this disease.

Perinatal and neonatal morbidity among infants of diabetic mothers at a university hospital in Central Saudi Arabia.

Objectives: To determine the perinatal and neonatal morbidity related to diabetes associated with pregnancy.

Methods: This is a prospective cohort study conducted at a tertiary university hospital in Central Saudi Arabia. All neonates born to mothers with pregnancy associated diabetes between July 2014 and June 2015 were recruited for the purpose of this study.

Perception, attitude, and satisfaction of paediatric physicians and nurses towards clinical practice guidelines at a university teaching hospital.

Rationale, Aims, And Objectives: To explore perception, attitude, and satisfaction of paediatric clinicians, trainees, and nurses at King Khalid University Hospital towards clinical practice guidelines (CPGs) including the locally adapted diabetic ketoacidosis CPG (DKA-CPG).

Methods: A cross-sectional survey was distributed to 260 doctors and nurses working in the paediatrics department.

Results: The response rate was 95.

Substantial reduction in hospital stay of children and adolescents with diabetic ketoacidosis after implementation of Clinical Practice Guidelines in a university hospital in Saudi Arabia.

Rationale, Aims And Objectives: We aimed to determine the effect of Clinical Practice Guideline (CPG) implementation on length of hospital stay of children and adolescents with diabetic ketoacidosis (DKA).

Methods: This was a 6-year (2008-2014) case-control retrospective study conducted at King Khalid University Hospital, Riyadh, that compared patients with DKA managed using CPG with those treated before CPG implementation.

Results: There were 63 episodes of DKA in 41 patients managed using CPG compared with 40 episodes in 33 patients treated before implementation of CPG.

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia.

Background: The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum of the 46XY (DSD) is so broad. In this study, we reviewed the clinical spectrum of a cohort of patients with 46XY DSD in a tertiary institute in the Middle East over two decades.

A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.

Objectives: The aim of this study is to determine congenital adrenal hyperplasia (CAH) with the pattern of CYP21A2 gene-mutations in Saudi children.

Methods: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and 2 asymptomatic individuals with a history of affected siblings. Additionally, we sequenced the full coding regions of the CYP21A2 gene and screened the gene for deletion(s)/duplication(s) using the multiplex ligation-dependent probe amplification (MLPA) technique.

Infantile Systemic Hyalinosis Complicated with Right Atrial Thrombus and Pericardial Effusion in an Infant.

Infantile systemic hyalinosis (ISH) is a rare multisystem fatal autosomal recessive disorder that involves widespread deposition of hyaline on connective tissues and certain internal organs. The major manifestations include painful articular contractures, hyperpigmentation, subcutaneous nodules, gingival hypertrophy, failure to thrive secondary to protein-losing enteropathy, and osteolytic bone lesions. In this paper, we report a 12-month-old girl with ISH presenting with recurrent diarrhea, failure to thrive, and refractory infections.

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.

Background: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Background: Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare.

Case Presentation: Here, we report on a female infant who presented with fever, convulsions, and polyuria.

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Background: Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms.

Case Presentation: We report two Saudi siblings with TT1.

Benign familial and non-familial infantile seizures (Fukuyama-Watanabe-Vigevano syndrome): a study of 14 cases from Saudi Arabia.

Purpose: Benign infantile seizures [BIS], familial and non-familial, represent a benign, age-related idiopathic syndrome of infancy. The aim of the current paper is to document the presence of the syndrome in Saudi Arabia and in Arab populations and to discuss the characteristic electroclinical features and the benign nature of this syndrome.

Patients And Methods: A case series of 275 patients with epileptic seizures (age range: 2 months-13 years) were followed over a period of 3 years and 7 months.

Rare but fatal complication of umbilical venous catheterization.

Umbilical venous catheterization in neonates is an intravascular infusion route for resuscitation and maintenance fluids, blood and blood products, parenteral nutrition, and hypertonic solutions that can be used as an alternative when peripheral venous access is not possible. When used, special precautions should be taken and guidelines followed to prevent rare but often fatal complications.