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Background: On December 2019, a novel coronavirus disease (COVID-19) spread worldwide and became a pandemic. Multisystem inflammatory syndrome in children (MIS-C) due to cytokine release syndrome following COVID-19 presents with various manifestations. We hypothesize that one of the rare manifestations is acute abdomen. Case Presentation . In this case series, eight cases (five girls and three boys) of gastrointestinal (GI) involvement and acute abdomen were reported to be associated with the cytokine storm due to COVID-19 infection. All patients were of Iranian nationality (Caucasian ethnicity), with a mean age of 8.9 years (range 3.5-14). They all presented with fever and acute abdominal pain. Additionally, maculopapular rash and edema of the extremities were common presentations. Free fluid on abdominal ultrasound or computerized tomography (CT) scan was observed in all patients. All cases tested positive for COVID-19. In six cases, laparotomy or abdominal surgery was performed for a diagnosis of acute abdomen, but appendicitis was confirmed in only one case. None of the cases presented with phlegmon. Elevated serum lipase and amylase levels were noted in two cases. Seven patients received corticosteroid pulse therapy. Clinical symptoms improved after one or two doses, and all patients were discharged after 4 weeks of follow-up with no mortality or morbidity., Conclusion: Patients experiencing unexplained acute abdominal pain along with fever, skin rash, and peripheral edema, who had a history of COVID-19 infection prior to or during the episode of acute abdomen symptoms, should be considered to have MIS-C. Furthermore, methylprednisolone pulse therapy could be a safe treatment option, reducing hospitalization duration in this patient population., Competing Interests: The authors declare they have no competing interests., (Copyright © 2024 Elmira Hajiesmaeil Memar et al.)

Necrotizing pneumonia (NP) is the destruction of the interstitial part of the lung due to severe infection. One cause of this rare and fatal condition in pediatrics is Acinetobacter. Severe infections, especially pneumonia, can prone pediatric patients to ischemic stroke. This study reports an 8-year-old girl presented to the emergency department complaining of shortness of breath, fever, and fatigue. She was admitted to the intensive care unit due to respiratory distress and pericardial effusion. Swab and respiratory secretion tests for COVID-19 and Acinetobacter were positive. In her admission course, her condition deteriorated, and on the fifth day, she underwent a craniotomy due to the signs of increased intracranial pressure (ICP). The computed tomography (CT) scan showed an ischemic stroke. Despite all efforts and medical efforts, the patient's clinical condition got worse, and she died 10 days after the surgery. COVID-19 can lead to vulnerability to severe bacterial infections such as NP in pediatrics. Severe infections are a significant risk factor for ischemic stroke. The presentation might be different in intubated unconscious patients, such as detecting increased ICP signs. In severe and extensive cases of NP and ischemia, the destruction of the lungs and brain tissue might be irreversible and even lethal. Doctors and parents should consider neurologic complaints in children with infectious diseases as a serious issue since infections make children vulnerable to complications such as stroke., Competing Interests: The authors declare no conflict of interest in preparing this case presentation., (© 2024 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd.)

Background: Whole-exome sequencing (WES) provides a powerful diagnostic tool for identifying primary immunodeficiency diseases (PIDs). This study explores the utility of this approach in uncovering previously undiagnosed PIDs in children with community-acquired sepsis (CAS), with a medical history of recurrent infections or a family history of PIDs., Methods: We performed WES on DNA samples extracted from the blood of the 34 enrolled patients, followed by bioinformatic analysis for variant calling, annotation, and prioritization. We also performed a segregation analysis in available family members to confirm the inheritance patterns and assessed the potential impact of the identified variants on protein function., Results: From 34 patients enrolled in the study, 29 patients (85%) with previously undiagnosed genetic diseases, including 28 patients with PIDs and one patient with interstitial lung and liver disease, were identified. We identified two patients with severe combined immunodeficiency (SCID), patients with combined immunodeficiency (CID), six patients with combined immunodeficiency with syndromic features (CID-SF), four patients with defects in intrinsic and innate immunity, four patients with congenital defects of phagocyte function (CPDF), and six patients with the disease of immune dysregulation. Autoinflammatory disorders and predominantly antibody deficiency were diagnosed in one patient each., Conclusion: Our findings demonstrate the potential of WES in identifying undiagnosed PIDs in children with CAS. Implementing WES in the clinical evaluation of CAS patients with a warning sign for PIDs can aid in their timely diagnosis and potentially lead to improved patient care., (© 2023 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

Introduction: In late February 2020, after we had informed about the presence of some cases of COVID-19 in Iran and its rapid spread throughout the country, we decided to make the necessary arrangements for patients with critical conditions in Pediatric Intensive Care Unit (PICU) at Children's Medical Center. There are a little data on critically ill children with COVID-19 infection with ICU requirements. The aim of this study was to describe clinical characteristics, laboratory parameters, treatment, and outcomes of the pediatrics population infected by SARS-CoV-2 admitted to PICU., Materials and Methods: This study was performed between February 2020 and May 2020 in the COVID PICU of the Children's Medical Center Hospital in Tehran, Iran. Patients were evaluated in terms of demographic categories, primary symptoms and signs at presentation, underlying disease, SARS-CoV-2 RT-PCR test result, laboratory findings at PICU admission, chest X-ray (CXR) and lung CT findings, and treatment. Moreover, the need to noninvasive ventilation (NIV) or mechanical ventilation, the length of hospital stay in the PICU, and outcomes were assessed., Results: In total, 99 patients were admitted to COVID PICU, 42.4% (42 patients) were males, and 66 patients had positive SARS-CoV-2 real-time reverse transcriptase-polymerase chain reaction (RT-PCR). There was no statistically significant difference in the frequency of clinical signs and symptoms (except for fever) among patients with positive SARS-CoV-2 RT-PCR and negative ones. Among all admitted patients, the presence of underlying diseases was noticed in 81 (82%) patients. Of 99 patients, 34 patients were treated with NIV during their admission. Furthermore, 35 patients were intubated and treated with mechanical ventilation. Unfortunately, 11 out of 35 mechanically ventilated patients (31%) passed away., Conclusion: No laboratory and radiological findings in children infected with COVID-19 were diagnostic in cases with COVID-19 admitted to PICU. There are higher risks of severe COVID-19, PICU admission, and mortality in children with comorbidities., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2022 Masoud Mohammadpour et al.)

This is a case report of Methenyl Tetrahydrofolate synthetase deficiency (MTHFS deficiency) characterized by global developmental delay, cerebral hypomyelination, severe spastic tonicity in extremities, and microcephaly. Mutation in the MTHFS gene was reported in the Whole Exome Sequencing (WES) and confirmed with Sanger sequencing of parents. It is of great significance to report since it would be the first case of MTHFS mutation reported from Iran and the fourth throughout the world with novel mutation and brain imaging., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Background: A safe and effective rubella vaccine is available and prescribed in IRAN., Objective: This is a survey of CRS cases collected based on WHO criteria one decade after the MR vaccination campaign (2003)., Methods: This Multi-stage prospective/cross-sectional study was carried out in three stages in 3 educational hospitals in Tehran (Rasoul Aram, Akbar Abadi, and Firoozabadi), In the first stage of the study between 2011 and 2012 total of 186 infants were evaluated, and in the second stage of the study, total 163 blood samples of infants with suspected INTRA UTERINE INFECTION were compared with a group of healthy matched infants. In the first and second stages, Rubella immunity (IgG&IgM) in cord blood was evaluated by the Eliza method., Results: Despite MR vaccination in Iran, after one decade"confirmed CRS" and " compatible CRS" was diagnosed in 5 and 31 from 89 CRS suspected cases., Conclusion: The incidence of "confirmed CRS" in every 100 CRS suspected infants (after campaign) is 5.6 %, and 31 CRS Compatible cases are so important. Without active CRS surveillance, mild infection such as IUGR, hearing loss, heart abnormalities, impaired vision, and mental retardation even in the developed country might be missed. Fetal infection is persistent, which imposes additional costs on the country. Another mass vaccination in women and girls is needed. Also, the anti-rubella IgG testing before pregnancy in women who were not vaccinated; vaccination of women before marriage /pregnancy should be obligatory in order to prevent the CRS., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Objective: Febrile seizure is the most common worrisome neurologic disorder in children in terms of parental point of view. The purpose of this study was to answer distressing parents' questions about the prevalence and possibility of febrile seizure recurrence., Materials & Methods: 140 patients who were admitted due to the first febrile seizure in the six months (March up to September) of the year 2015 were enrolled to this study. Exclusion criteria include central nervous system infection, non-confirmed febrile seizure and lack of parental acceptance forlong-term inclusion in this study. All children were followed in terms of second febrile seizure during one year follow-up from the time of first febrile seizure. (3 sentences were deleted)., Results: Recurrence of febrile seizure was 25.7 % during one-year follow-up. Significant risk factors for recurrence include: age less than one year old, male gender, seizure with low level of fever, family history of epilepsy, family history of febrile seizure, complex febrile seizure (focal and repeated in 24 hours), seizure duration more than 15 minutes and parental indifference to the onset of fever in their children before seizure occurrence. Although duration of fever before seizure, failureto thrive, positive history of admission in neonatal period, dystocia at birth delivery and children with day care staying were associated with greater febrile seizure recurrence; but, they did not have significant relationship with recurrence rate. Prophylaxis with benzodiazepine reduced the recurrence rate., Conclusion: Chance of febrile seizure recurrence in one-year follow-up increased in presence of risk factors expressed in finding part. Parental indifference to the onset of fever in their children that is starting before seizure was a considerable risk factor in terms of recurrence prevalence. We recommended to emphasis on parental education about this new finding as a risk factor for febrile seizure in order to prevent its future recurrence ., Competing Interests: The authors declare that there is no conflict of interest, (© 2022 The Authors. Published by Shahid Beheshti University of Medical Sciences.)

Background: Giant axonal neuropathy (GAN) is a very rare fatal neurodegenerative disorder with clinical and allelic heterogeneity. The disease is caused by mutations in the GAN (gigaxonin) gene. Herein, we reported the clinical presentations and results of genetic analysis of the first Iranian GAN case. Methods: Phenotypic data were obtained by neurologic examination, brain magnetic resonance imaging (MRI), electromyography (EMG), electroencephalography (EEG), and sonography from the proband. Deoxyribonucleic acid (DNA) was isolated from peripheral blood leucocytes and whole exome sequencing (WES) was performed. The candidate variant was screened by Sanger sequencing in the proband and her family members. Results: The proband was a 7-year-old girl who was admitted with a chief complaint of ataxia, muscle weakness, delayed developmental milestones, and history of psychiatric disorders. She was very moody and had clumsy gait, decreased deep tendon reflexes (DTRs) of lower limbs, and kinky hair. The brain MRI revealed white matter abnormality. The EMG revealed that her disease was compatible with the chronic axonal type of sensorimotor polyneuropathy; however, her EEG was normal. Results of the WES revealed a homozygous variant; c.G778T:p.E260 * in the GAN gene, indicating the GAN disorder. Conclusion: The present study affirmed GAN allelic heterogeneity and resulted in the expansion of the phenotypic spectrum of GAN pathogenic variants. Identification of more families with mutations in GAN gene helps to further understand the molecular basis of the disease and provides an opportunity for genetic counseling especially in the populations with a high degree of consanguineous marriage such as the Iranian population., (Copyright © 2020 Iranian Neurological Association, and Tehran University of Medical Sciences Published by Tehran University of Medical Sciences.)

Background: Cancer, a common disease in adulthood, is a rare albeit slowly increasing condition among children. Currently, limited data are available on the incidence, prevalence, and mortality of these diseases in many regions, including developing countries. Herein, we are reporting national and sub-national estimates on deaths due to childhood cancers between 2000 and 2015 in Iran., Methods: Cancer mortality rates were estimated using the national death registration system's data after addressing its incompleteness and misclassification, using demographic (complete birth history and summary birth history) and statistical analysis (spatiotemporal, Gaussian process regression, and generalized linear mixed models). We included data from cemeteries of two cities (Tehran and Isfahan) that were not included in the death registration system. We used census data and household expenditure and income surveys for data on population and other covariates used in the modeling., Results: The overall age-standardized death rate (ASDR) of childhood cancers have decreased by 69.52% (80.67-49.71) in Iran (equal to an annual percent change of -3.63 [-4.53- -2.24]), declining from 12.24 (95% UI: 10.52-14.49) in 2000 to 3.73 (2.8-5.29) deaths per 100000 in 2015. This decrement was equal to an annual percent change of 4.35% over these years. Leukemia, brain, and nervous system malignancies accounted for about 66% of all cancer-related mortalities among children and adolescents in 2015, which had a 10% increase compared to 2000. Moreover, trends at the sub-national level showed that the highest and lowest ASDR of childhood cancers ranged from 2.12 to 4.99 across provinces of Iran in 2015., Conclusion: Although the overall mortalities have decreased, there is still inequality in the distribution of the recorded deaths. This inequality should be addressed with the improvement of the quality of care and better access to pediatric hospitals and oncologists in these areas., (© 2019 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)

Background: Home mechanical ventilation is a promising option for children requiring long-term mechanical-assisted ventilation, while data on cost-effectiveness of this approach is limited., Aims: To investigate the cost-effectiveness of home mechanical ventilation in children requiring long-term mechanical-assisted ventilation., Methods: A retrospective cohort was conducted on 67 children (32 girls, 47.7%) requiring mechanical-assisted ventilation. Underlying diseases of children were congenital airway malformations in 24, cystic fibrosis in 4, severe laryngomalacia in 16, poly neuropathy syndrome in 6, mitochondrial myopathy in 5, hypoxic ischemic encephalopathy in 6, and cerebral palsy in 2. Children were admitted in pediatric intensive care units (ICU) for 2 weeks. After discharge, they were on home mechanical ventilation and were followed for 1 year. Data on daily costs of admission at ICU, rehospitalizations, weaning, educational performance and muscle strength were gathered., Results: Mean age of children at time of initiation of mechanical-assisted ventilation was 5.8 years (ranged from 2 months to 15 years). Mean number of re-hospitalizations was 3.4&#95;4.9 times with mean duration of 9.44&#95;2.53 days. Of children on mechanical ventilation, 1 attended school, 2 were weaned, and 21 experienced improvement in muscle strength. No fatal or serious complications were observed while children were on home mechanical ventilation. Mean costs of daily ICU admission was 912&#95;1028 $, while the mean daily cost of home mechanical ventilation was 60.86&#95;4.95 $ (p < 0.001)., Conclusions: Home mechanical ventilation is more cost-effective compared to ICU admission for only mechanical-assisted ventilation. < p > < /p >.

Background: Any mismatch between the production and absorption of CSF results in hydrocephalus. In most cases, the selected choice of treatment is the ventriculoperitoneal shunt insertion. Although, the surgery could have complications such as infection, shunt malfunction, subdural hematoma, seizure and Shunt immigration; so, the early and proper detection of these complications could result in better prognosis. The aim of this study was to evaluate and compare the efficacy of CT scan, CSF analysis and X-ray radiography in detection of shunt complications and problems in shunt placement and further follow-up in hospitalized children., Methods: The medical records of children in Rasul Akram hospital in Tehran were reviewed retrospectively in the last 10 years, from 2006 to 2016. All data were recorded in the prepared form including the age, sex, shunt complication, CT scan and CSF characteristics., Results: The total number of 95 patients were interfered in this study including 56 males (58.9%) and 39 females (41.1%). The mean age at the onset of complications were 2.8±2.2 years-old. The shunt obstruction (60%) and infection (25.3%) were the most common complications. The CT scan was able to detect 36.5% of shunt complications. The CT scan had the sensitivity and specificity of 50 and 87%, respectively in detection of shunt obstruction. The all cases of brain hematoma and hemorrhage were revealed by CT scan. On the other hand, the CT scan had 20% of sensitivity and 60% of specificity in the detection of shunt infection. The CSF evaluation in shunt infection revealed 92% hypoglycemia, 87.5% pleocytosis, and 62.5% positive CSF culture. CSF had the sensitivity, specificity, positive predictive value and negative predictive value of 92, 82, 63 and 97%, respectively. The patient's symptoms and signs were helpful in obtaining higher test accuracy., Conclusion: The CT scan was not a good sensitive and specific study in the detection of shunt obstruction and infection, but it was very accurate in detection of hemorrhage and hematoma. On the other hand, CSF evaluation was a reliable test in shunt infection disclosure.

Background: Systemic lupus erythematosus (SLE) is a frequent rheumatology disorder among children. Since hepatic involvement is a common systemic manifestation in lupus, the frequency and type of hepatic involvement were determined in pediatric cases of SLE admitted to Children's Medical Hospital from 2005 to 2014., Methods and Patients: In this observational case-series study, 138 pediatric cases of SLE were admitted in Children's Medical Center (a pediatric rheumatology referral center in Tehran, Iran) enrolled from 2005 to 2014 and the outcomes, frequency, and type of hepatic involvement were assessed among them., Results: Hepatic involvement was reported in 48.55% of total SLE patients. Aspartate aminotransferase (AST), alanine aminotransferase (ALT), and both enzymes higher than normal upper limits were detected in 8.7%, 5%, and 34.7% of lupus patients, respectively. Increased level of liver enzymes was categorized as less than 100, between 100 and 1000, and more than 1000 levels in 23.1%, 23.1%, and 2.1% of cases. The only gastrointestinal involvement in lupus patients contributing to hepatic involvement was gastrointestinal bleeding. Rising in liver enzymes was detected mostly in lupus patients without gastrointestinal bleeding (52.2% without versus 25.8% with gastrointestinal bleeding, P = 0.007)., Conclusion: Approximately half of the pediatric patients suffering from SLE have hepatic involvement. No significant correlation was observed between various organs involvement and abnormal level of liver enzymes.