Factitious Hypoglycemia in an Infant With Undetectable Exogenous Insulin by a Commercial Insulin Immunoassay: A Diagnostic Pitfall.

Factitious hypoglycemia in infancy is a rare, life-threatening manifestation of Munchausen syndrome by proxy (MSBP). The hallmark of such presentation is the detection of low c-peptide combined with high insulin at the time of hypoglycemia. We report the case of a male infant who presented with recurrent severe unexplained hypoglycemic episodes since the age of six months. Two of his siblings had similar unexplained hypoglycemia episodes at a young age. He was extensively investigated, and all were normal, for endocrine and metabolic etiologies. He underwent fundoplication and insertion of a gastrostomy tube with multiple lengthy hospital admissions. His mother had diabetes and was on insulin treatment; she also had mental health issues with family-related social stressors. His hypoglycemic attacks resolved once separated briefly from his mother on the ward, raising our suspicion of MSBP. The exogenous administration of insulin was only confirmed following a scheduled change of our local Insulin assay in our laboratory when his insulin was detectable with low C-peptide on one of his typical attacks. Apparently, our previous insulin immunoassay lacked sensitivity for his mother's long-acting insulin. We are reporting this case to raise awareness about this potential diagnostic pitfall.

Readiness to change among parents of overweight/obese children in Saudi Arabia and influencing factors.

Background: Pediatric overweight/obesity is a major health problem worldwide. Accurate parental perception of children's weight status is crucial in preventing and tackling this issue. Despite the consistent increase in prevalence of the childhood obesity in Saudi Arabia, the role of the parents is not well described. This study aims to explore Saudi parents' readiness to change the lifestyle of their overweight/obese children and the barriers facing it. Individuals and Methods: Through a cross-sectional design, 362 parents of overweight/obese children attending King Abdulla Specialized Children's Hospital were selected and requested to fill a predesigned questionnaire reflecting their perception about their children's weight status and their preparedness to change their lifestyle. A Chi-square test was used to verify significance. A P value of <0.05 was considered an indication of significance. Results: Among all overweight/obese children (n = 362), obese children formed 39.5 and 22.7% had morbid obesity. Only one half of the parents (49.7%) had correct perception about their children's weight. Correct perception increases significantly with an increase age of the child and in the presence of family history of diabetes, P < 0.05. Only 68.9% were worried about body weight of their children, the percentage was significantly higher in younger parents; parents with obese children and with a positive family history of hypertension P < 0.05. In total, 83.1% of the worried parents proceeded to preparation and action stages; the percentage was significantly higher among parents whom their children were free from identified comorbidities, P < 0.05. Conclusion: Misconception about real weight status of overweight/obese children is common in Saudi parents. Parents who have correct perception and worried about health status of their children are more likely to take actions. The first step in controlling children's obesity is to educate parents about how to recognize the real weight status of their children and to be aware about the health-related problems of obesity.

Congenital Intrathoracic Ectopic Kidney in Association With Bochdalek Hernia.

Thoracic ectopic kidney is the rarest type of ectopic kidney with a reported finding of one in every 15,000 autopsies. The diagnosis of this anomaly is often incidental. Children may be symptomatic with recurrent respiratory symptoms. We present a case of an infant with a thoracic ectopic kidney associated with a congenital diaphragmatic hernia that was initially misdiagnosed as unresolved pneumonia due to persistent well-demarcated opacity in the left lower lobe. Our aim is to increase awareness about this rare entity.

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

PURPOSE: We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause. METHODS: Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed. RESULTS: We identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. We confirmed aberrant AGR2 transcripts caused by an intronic variant and complete absence of AGR2 transcripts caused by the large gene deletion, resulting in loss of function (LoF). Furthermore, transcriptome analysis identified significant downregulation of components of the mucociliary machinery (intraciliary transport, cilium organisation), as well as upregulation of immune processes. CONCLUSION: We describe a previously unrecognised autosomal recessive disorder caused by AGR2 variants. AGR2-related disease should be considered as a differential diagnosis in patients presenting a CF-like phenotype. This has implications for the molecular diagnosis and management of these patients. AGR2 LoF is likely the disease mechanism, with consequent impairment of the mucociliary defence machinery. Future studies should aim to establish a better understanding of the disease pathophysiology and to identify potential drug targets.

Further delineation of HIDEA syndrome.

Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of the prolyl 4-hydroxylases (P4Hs) family of enzymes. We report seven patients from four new families in whom HIDEA was only diagnosed after whole-exome sequencing (WES) revealed novel disease-causing variants in P4HTM. We note the variable phenotypic expressivity of the syndrome except for cognitive impairment/developmental delay, and hypotonia, which seem to be consistent findings. One patient only presented with hypotonia, developmental delay, and abnormal eye movements, which highlights the challenge in diagnosing milder cases with this new syndrome. Other notable features include mild facial dysmorphism, obesity, and brain dysmyelination and atrophy. We conclude that HIDEA is a highly variable syndrome and suspect that a large fraction of patients will be diagnosed via reverse phenotyping after recessive P4HTM variants are identified by agnostic genomic sequencing assays.

Suspected Oseltamivir-induced bradycardia in a pediatric patient: A case report from King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.

In recent years, influenza infection in the pediatric population has been a widescale issue that physicians face during the winter season. Medications used to treat and prevent such infections include Oseltamivir, an anti-viral neuraminidase inhibitor developed for both influenzas A and B. The most commonly well-known and manifesting adverse effects are nausea, vomiting and gastrointestinal upset. There is paucity of reports on other potential serious side effects of Oseltamivir in the pediatric population. One of the rarely reported adverse reactions in adult population is sinus bradycardia. This case reports the development of sinus bradycardia in a pediatric patient after administration of Oseltamivir. The previously healthy five-year-old patient was started on Oseltamivir after a positive polymerase chain reaction for influenza. The patient developed sinus bradycardia but remained hemodynamically stable. This finding led to consultations and investigations to determine the cause of bradycardia. It is pivotal to increase the awareness of the potential link between Oseltamivir and bradycardia in pediatric and adult populations to avoid unnecessary clinical investigations and to enhance physician decisionmaking. A prospective cohort study on Oseltamivir is needed for better understanding of its adverse effects in the pediatric population.

Fatal Meningitis in a 14-Month-Old with Currarino Triad.

We report a case of a 14-month-old girl with undiagnosed Currarino triad presenting acutely with meningitis caused by enteric commensals. Head CT demonstrated a large pneumocephalus. A fistulous neurenteric tract through a presacral mass was present on spine MRI and abdominal CT. The patient had a history of constipation for the last three months. However, an underlying diagnosis of Currarino triad had not been suspected. In retrospect, a sickle-shaped sacral anomaly was present on a previous abdominal radiograph. The patient succumbed to complications of meningitis. The purpose of the case report is to highlight the potentially fatal complication of Currarino triad and sensitize radiologists to look actively for sacral anomalies on abdominal radiographs, especially of children with chronic constipation.