COVID-19 in Pediatrics: Demographic, Clinical, Laboratory, and Radiological Characteristics of Infected Patients With SARS-CoV-2

The COVID-19 disease usually leads to mild infectious disease in children, but some develop serious complications. Here, we describe the characteristics of children with COVID-19 in northern Iran, the Golestan province. Ninety-one confirmed cases were enrolled in the study, aged 0–18 years. Demographic, clinical, comorbidity, laboratory, and radiological data were compared based on the disease severity (admitted to intensive care unit (ICU) or not) and disease outcome (recovered or deceased). Sixteen (17.5%) cases were hospitalized in ICU, and 8/91 (8.8%) deceased. Fever and cough were the most common clinical symptoms. Among all symptoms notified there were no significant differences between severe and milder cases, or between those who deceased and recovered. Failure to thrive (FTT), malignant disease and neurological disease were significantly more prevalent in severe cases as was frequently reported comorbidities. Laterality, ground-glass opacity, and lung consolidation were the most common findings in chest computed tomography. The data confirms that the COVID-19 disease has various presentations in children, and clinical, laboratory, and radiological findings may help predict the development of severe forms of COVID-19 among children.

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann–Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann–Pick type C, which certainly leads to neurologic deterioration. Case presentation We report a case of Niemann–Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1 month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient’s Niemann–Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for NPC1 and NPC2 gene examinations. Conclusions In this study, despite the enzymatic study being negative, Niemann–Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann–Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann–Pick type C.

Children’s Adherence to Antiretroviral Therapy and Associated Factors: Multi-center Cross-sectional Study

Background- Sub- optimal adherence to antiretroviral therapy will lead drug resistance, treatment failure, clinical deterioration, death and failure to thrive in children. Studies conducted among children below 15 years old were limited in Ethiopia in general and in study area in particular. Therefore, this study was aimed to assess status of children’s adherence to ART and associated factors in study area. Methods- We conduct a facility-based cross-sectional study by including total of 282 children <15 years, who received Anti retro viral therapy for at least one month. All children/caregivers who were attending ART clinic during data collection period were consecutively recruited to the study. Both bivariate and multivariate logistic regression were performed. Result- Out of 282 caregivers included with their children, 226(80.2%) were females (mean age= 38.6 and SD = 12.35) and out of the total children, half (50%) were female and 246(87.2%) were between the ages 5–14 years (mean age= 8.5 and SD = 2.64). Two hundred forty six (87.2%) children had adherence status of ≥95% in the month prior to interview. Children whose caregivers were residing in urban were 3.3 (95% CI: 1.17, 9.63) times more adherent to ART than those whose caregivers were residing in rural. Children whose caregivers were biological parent were 2.37(95% CI: 1.59, 3.3) times more adherent than those whose caregivers were non biological parent. Also children of caregivers who were knowledgeable about ART treatment, were 4.5(95% CI: 1.79, 9.8) times more adherent to ART than their counter partsConclusion and recommendation- Adherence status of children in our study area was comparable. Being biological caregivers, residing in urban and knowledgeable about ART treatment were facilitate adherence to ART. Ongoing education about treatment and further study with multiple adherence assessment method were recommended.

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

The sodium (Na+):multivitamin transporter (SMVT), encoded by SLC5A6, belongs to the sodium:solute symporter family and is required for the Na+-dependent uptake of biotin (vitamin B7), pantothenic acid (vitamin B5), the vitamin-like substance α-lipoic acid, and iodide. Compound heterozygous SLC5A6 variants have been reported in individuals with variable multisystemic disorder, including failure to thrive, developmental delay, seizures, cerebral palsy, brain atrophy, gastrointestinal problems, immunodeficiency, and/or osteopenia. We expand the phenotypic spectrum associated with biallelic SLC5A6 variants affecting function by reporting five individuals from three families with motor neuropathies. We identified the homozygous variant c.1285 A > G [p.(Ser429Gly)] in three affected siblings and a simplex patient and the maternally inherited c.280 C > T [p.(Arg94*)] variant and the paternally inherited c.485 A > G [p.(Tyr162Cys)] variant in the simplex patient of the third family. Both missense variants were predicted to affect function by in silico tools. 3D homology modeling of the human SMVT revealed 13 transmembrane helices (TMs) and Tyr162 and Ser429 to be located at the cytoplasmic facing region of TM4 and within TM11, respectively. The SLC5A6 missense variants p.(Tyr162Cys) and p.(Ser429Gly) did not affect plasma membrane localization of the ectopically expressed multivitamin transporter suggesting reduced but not abolished function, such as lower catalytic activity. Targeted therapeutic intervention yielded clinical improvement in four of the five patients. Early molecular diagnosis by exome sequencing is essential for timely replacement therapy in affected individuals.

The Severity of Postoperative Pancreatic Fistula Predicts 30-Day Unplanned Hospital Visit and Readmission after Pancreaticoduodenectomy: A Single-Center Retrospective Cohort Study

Background: Unplanned hospital visits (UHV) and readmissions after pancreaticoduodenectomy (PD) impact patients’ postoperative recovery and are associated with increased financial burden and morbidity. The aim of this study is to identify predictive factors related to these events and target the potentially preventable UHV and readmissions. Methods: We enrolled 518 patients in this study. Characteristics were compared between patients with or without UHV and readmissions. Results: The unplanned visit and readmission rate was 23.4% and 15.8%, respectively. Postoperative pancreatic fistula (POPF) grade B or C, the presence of postoperative biliary drainage, and reoperation were found to be predictive factors for UHV, whereas POPF grade B or C and the presence of postoperative biliary drainage were independently associated with hospital readmission. The most common reason for readmission was an infection, followed by failure to thrive. The overall mortality rate in the readmission group was 4.9%. Conclusions: UHV and readmissions remain common among patients undergoing PD. Patients with grade B or C POPF assessed during index hospitalization harbor an approximately two-fold increased risk of subsequent unplanned visits or readmissions compared to those with no POPF or biochemical leak. Proper preventive strategies should be adopted for high-risk patients in this population to maintain the continuum of healthcare and improve quality.

Spontaneous Regression of Tumor in an Optic Pathway Glioma Patient With Diencephalic Syndrome: Case Report and Literature Review

Background: Diencephalic syndrome (DS) can cause failure to thrive in pediatrics, which is mostly found in optic pathway gliomas (OPGs) patients. OPGs patients with DS always show a poor outcome. Case presentation: We present the case of an OPG patient with DS who got a spontaneous regression without any treatment. A 6-month-old girl presented with failure to thrive for two months and visual dysfunction with bilateral horizontal nystagmus. MRI demonstrated a 42mm*37mm*36mm enhanced and lobulated lesion located in the sellar region with a clear boundary with surrounding tissues. OPG and DS was diagnosed according to her radiological examination and manifestation. Conservative follow-up was given. There was a spontaneous decrease in tumor size during follow-up. Symptom improves and the patient continues to have a good quality of life despite a moderate dysfunction of her left eye.Conclusions: Conservative observation can be used as a treatment for some OPG patients, body weight may be a marker of the growth of tumor in OPG patients with DS.

Neonatal Bartter syndrome: A case report from Northern India

Bartter Syndrome is a rare genetic disorder affecting the renal tubular system causing a decreased absorption of sodium and chloride in the thick ascending limb of the Henle loop. Most children present in infancy with complaints of polyuria, polydipsia, vomiting, constipation and failure to thrive while older children present with recurrent episodes of dehydration, muscle weakness and cramps. The present study aimed to demonstrate a case of Bartter syndrome presenting as acute gastroenteritis.

Evaluation of diagnostic factors used to refer children with constipation for rectal biopsies

Purpose Children with constipation and suspected Hirschsprung’s disease are referred for rectal biopsy. Since this is an invasive procedure, appropriate indications should be applied to minimize the number of “unnecessary” biopsies. Methods We reviewed all constipated children who underwent a rectal biopsy to diagnose a possible Hirschsprung’s disease at a tertiary referral hospital over a 6-year period (2013–2018). We registered clinical and demographic factors in these children and conducted correlation and multivariate regression analysis to evaluate the relation between these factors and a diagnosis of Hirschsprung’s disease. Results We identified 225 children, aged 0–17 years. In total, Hirschsprung’s disease was diagnosed in only 49/225 (22%). Among the 49 children with Hirschsprung’s disease, 29 (59%) were diagnosed in the neonatal period. Among girls, HD was confirmed in only 10/101 (10%) children, and only 1 of these 10 girls was older than 6 months at the time of the biopsy. The following factors correlated significantly with Hirschsprung’s disease diagnosis in children older than 1 month: “male sex”, “failure to thrive”, “gross abdominal distention plus vomiting” and “fulfils the Rome 4 criteria for functional constipation”. Conclusion In children referred for rectal biopsy, the factors most indicative of Hirschsprung’s disease were “male sex”, “failure to thrive”, “gross abdominal distention plus vomiting” and “fulfils the Rome 4 criteria for functional constipation”. Notably, the prevalence of Hirschsprung’s disease decreased with the increasing age of the children. Girls referred for a biopsy rarely had Hirschsprung’s disease, especially those older than 1 month.