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. The aim was to explore the etiology, clinical presentations, and outcome of pediatric COVID-19 patients. Viral respiratory infections are associated with high societal costs for children. In addition, children with asymptomatic SARS-COV-2 infections can be a source of COVID-19 spread to parents and caregivers. The major reported risk factors for pediatric COVID-19 cases were close contact with a SARS-COV-2 positive family member, a history of travel, and/or living in endemic areas. Children with COVID-19 who required ICU care had various comorbidities, such as malignancy. As the pandemic evolved, multiple cases of multisystem inflammatory syndrome in children and adolescents temporarily related to covid-19 (MIS-C) were reported. A unique population is neonates born to COVID-19 affected mothers, as there is an urgent need to optimize their management and outcome during this rapidly evolving pandemic. The early identification of SARS-COV-2 infection in infants and children has important direct management effects in these children and public health implications because of the effects on disease transmission control measures.

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 95.4%. The respondents had a positive perception and attitude towards general CPGs and specifically for the DKA-CPG; 98.7% thought CPGs were useful sources of advice, improved safety, and decreased risk, and reduced variation in practice. A total of 99.2% thought CPGs were good clinical tools, 98.3% satisfied with, had confidence in well-developed CPGs, and would recommend them to their colleagues to use, and 94.6% agreed they were cost-effective. The preferred format for CPGs was paper (46.6%) and electronic (42.9%). The DKA-CPG helped in managing patients and respondents were all satisfied and had confidence with it (100%). The rationale and objectives of the DKA-CPG were clear for 99.25%; 98.5% thought the layout was clear and well organized and user-friendly (96.2%). Compared with nurses, physicians had a higher perception towards CPGs in general (P < .05) and the DKA-CPG (P < .05). CONCLUSIONS: The paediatric doctors, and nurses have a great perception and satisfaction and positive attitude towards CPGs in general, towards the paediatric diabetic ketoacidosis CPG in particular, which in turn had a positive impact on the acceptability and implementation of the CPGs. These findings could help in sustaining a safe and high-quality health care environment through implementation of evidence-based CPGs.

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. All neonatologists and pediatricians who care for these at-risk preterm neonates should also be aware of this timing. This practical guideline intends to provide guidance to ophthalmologists, neonatologists and allied health care professionals in Saudi Arabia on current indications for screening and management of retinopathy of prematurity to prevent or minimize subsequent complications. This practical guideline was led by the National Eye Health Program (NEHP) and Neonatology Services Improvement Program at Ministry of Health (MOH), furthermore it has been solicited and endorsed from both Saudi Ophthalmological Society (SOS) and Saudi Neonatology Society (SNS).

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. Infants born at 23 weeks or less, infants who died within 3 hours of delivery, twins, and unbooked pregnant ladies were excluded from the study. RESULTS: A total of 279 ladies and 289 infants were enrolled in the study. Gestational diabetes was observed in 84.5% of study subjects,  type 1 diabetes in 2.8%, and type 2 diabetes in 12.5% of  the females that were examined. A variety of neonatal complications were observed in infants of diabetic mothers including macrosomia, hypoglycemia, hypocalcemia, hyperbilirubinemia, respiratory distress syndrome, and congenital malformations. Macrosomia, hypoglycemia, respiratory distress syndrome, and NICU admission correlate with poor control of diabetes during pregnancy (HbA1c greater than 7%). Moreover, the presence of congenital malformations correlates with poor diabetes control in the first and second trimester, but not in the third trimester. CONCLUSION: Infants of diabetic mothers in this cohort developed a variety of neonatal events that  largely correlates with poor metabolic control during pregnancy.

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 molecular study identified a homozygous missense mutation, c.134T > C; p.L45P, in exon 1 of the anthrax toxin receptor 2 (ANTRX2) gene. Our patient passed through an eventful course that included septic shock, central line infections, right atrial thrombosis, and pericardial effusion. She incurred acute bronchiolitis due to respiratory syncytial virus infection, which led to her death. In conclusion, this case report highlights that severe and life-threatening morbidities and complications can be encountered in ISH, to which some management options can be applied.

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. Baseline characteristics of the 2 groups were similar (age, sex, newly diagnosed patients, recurrent DKA, DKA severity, and mean glycosylated hemoglobin). The mean length of hospital stay (±SD) was 68.6 ± 53.1 hours after implementation of CPG compared with 107.4 ± 65.6 hours before implementation (P < .001). The reduction in length of hospital stay equals to 1700 bed days saved per year per 1000 patients. CONCLUSIONS: Implementation of CPG for DKA decreased the length of hospital stay.

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. OBJECTIVE: To define the clinical spectrum of 46XY DSD in a major teaching hospital, Riyadh, Saudi Arabia. MATERIALS AND METHODS: This is a retrospective, case series hospital-based study. The case notes, laboratory investigations, and imaging studies were reviewed for patients with 46XY DSD over a 20 years period (1989-2010) at King Khalid University Hospital, Riyadh, Saudi Arabia. Molecular genetics were not available in all patients. RESULTS: During the period under review; a total of 56 patients were seen with 46XY DSD due to variable etiologies. Androgen insensitivity syndromes (AIS) and 5-α-reductase deficiency were among the commonest (44.6%), with multiple siblings involvement within the family. Of these, 16 patients were showing variable degrees of insensitivity ranging between complete (n=5, 31.2%) and partial (n=11, 68.8%) insensitivity, whereas in nine patients the diagnosis of 5-α-reductase deficiency was entertained based on hormonal studies. Of interest to see was a high number of patients (n=14, 25%) either with a localized congenital anomalies such as the cloacal anomalies or generalized congenital malformations following the pattern of certain syndromes. CONCLUSION: A wide spectrum of causes were noted. Androgen insensitivity syndrome was the commonest. In Saudi Arabia, where consanguineous mating is high, 5-α-reductase is also a common cause of 46XY DSD.

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. RESULTS: Nine patients had classic CAH and presented with ambiguous genitalia and/or salt losing crisis. Two patients had the non-classic form of CAH and presented with precocious puberty. The remaining 2 subjects were asymptomatic. Screening the CYP21A2 gene, we detected p.Gln318X mutation in 4 patients, c.290 -13 C>G (IVS2-13C>G) in another 4, and a common deletion, involving exons 6 and 8 in 3 patients. CONCLUSION: Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH. 

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. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1. CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory). CONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.

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. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. CONCLUSION: This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

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. Case 1 was a male infant who presented at 2 months old with fever, vomiting and refusal of feeding. Examination revealed a sick-looking infant with signs of severe dehydration and hypovolemic shock. He was jaundiced, and had hepatomegaly and elevated liver enzymes. Echocardiography was performed in light of a lack of response to inotropes, and revealed biventricular and interventricular septal hypertrophies. The ventricular ejection fraction was 65%. Urine organic acid analysis showed elevated succinylacetone, consistent with a diagnosis of TT1. An FAH gene study identified a c.1 A > G homozygous mutation. This patient responded well to intensive cardiorespiratory therapy, tyrosine-free formula, and oral 2-nitro-4- trifluoromethylbenzyl 1, 3 cyclohexanedione (NTBC). Echocardiographic findings reverted to normal after 4 weeks. Case 2 was the younger brother of Case 1, and was born 6 months after his brother had been confirmed with tyrosinemia. Pregnancy and delivery were uneventful. Serum amino acid and organic acid analyses 4 days after birth confirmed tyrosinemia. DNA analysis identified a c.1 A > G homozygous mutation, as in his brother. Echocardiography was normal. Special formula and NTBC were commenced on day 7 of life. The infant remained asymptomatic after 9 months of follow-up. CONCLUSIONS: These cases highlight TT1 as a treatable cause of cardiomyopathy in children. It also supports the idea that early diagnosis and treatment may prevent the development of cardiomyopathy associated with tyrosinemia.

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. The inclusion criteria for BIS were as follows (1) age of seizure onset between 2 and 24 months, (2) normal development before, during and after the onset of seizures, (3) normal interictal EEG, (4) normal brain imaging, and (5) good response to treatment. We analyzed these infants with respect to age at seizure onset, sex, physical and neurological examination, consanguinity, frequency and type of convulsions, associated conditions and laboratory and radiological investigations. A waking and sleeping interictal EEG was performed on all patients, and for one patient (No. 1), ictal EEG and video clips were recorded. RESULTS: Fourteen infants (12.0%) showed electroclinical features consistent with BIS. Eleven patients fulfilled the criteria of benign non-familial infantile seizures (BNFIS), and for three patients, their family pedigrees showed the possibility of benign familial infantile seizures (BFIS). All of the patients responded to anti-epileptic treatment, and 50% of them responded within 3 months. CONCLUSIONS: To our knowledge, this is the first study to document the presence of BIS (Fukuyama-Watanabe-Vigevano syndrome) in Saudi Arabian and Arab populations. We highlighted the characteristic features of BIS and demonstrated the benign nature of the syndrome.

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.