Pediatric Reports

Introduction: Lymphedema is a specific type of edema that affects regions of the body in a chronic, progressive manner. Aim: The aim of the present study was to describe the therapeutic evolution of more than ten years of treatment for primary congenital lymphedema using the Godoy and Godoy method. Method: Ten children with primary congenital lymphedema with more than ten years of treatment at the Godoy Clinic were evaluated. Children with a clinical diagnosis of primary congenital lymphedema in treatment for more than 10 years with the Godoy Method. Cervical stimulation is the first treatment option of the method and is performed as monotherapy. The patients were reevaluated with weekly, bi-weekly and monthly frequencies and then every three months or when the family was able to return to the clinic. Results: For cases in which cervical stimulation was not possible, grosgrain stockings as monotherapy was the second therapeutic option. Conclusion: The Godoy and Godoy Method is effective at reducing edema in cases of primary congenital lymphedema, with the maintenance of the results throughout the treatment period. Full article

Epstein–Barr virus (EBV) is estimated to infect more than 98% of adults worldwide and is one of the most common human viruses. Acute acalculous cholecystitis (AAC) of the gallbladder is an atypical complication of infectious mononucleosis caused by EBV. Conservative management has been described in the context of AAC caused by EBV. A surgical approach must be considered in the case of acute complications such as perforation or gallbladder gangrene. We present the case of a 10-year-old female patient with AAC due to infectious mononucleosis syndrome caused by primary EBV infection. Full article

Reversible lesions involved in the splenium of corpus callosum (RESLES) are a rare clinic-radiological condition, whose pathogenesis could be related to infectious events (such as in mild encephalopathy with reversible splenial lesion—MERS), epilepsy or metabolic/electrolyte disorders. MERS is characterized by an acute mild encephalopathy associated with lesions in the splenium of corpus callosum on brain magnetic resonance imaging. Viral infections are commonly associated with this condition and type A influenza is the most common cause. The prognosis is generally favorable with spontaneous resolution of clinical and radiological abnormalities. We report a case report of type B influenza MERS in an 8-year-old unvaccinated girl with complete clinical and radiological recovery. Full article

The 14-3-3η (eta) protein was evaluated as a biomarker in a cohort of patients with juvenile idiopathic arthritis (JIA), as well as disease- and healthy-controls, to determine its potential clinical utility. In this case-control study, levels of 14-3-3η protein were evaluated in archival specimens from patients with JIA, systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA), as well as healthy pediatric controls. Just over 200 patients were evaluated, using specimens banked between 1990 and 2011. Comparisons were made to complete blood cell count (CBC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibodies, and anti-nuclear antibody (ANA) positivity. 14-3-3η at levels 0.2 ng/mL or higher was considered positive. Fisher’s exact tests, odds ratios, 95% confidence intervals, and p-values were reported. 14-3-3η positivity was seen in all included JIA subtypes. The rate of positivity was the highest in RF-positive (pos) polyarticular JIA. In the disease and healthy controls, lower rates of positivity were observed. The frequency of 14-3-3η positivity among RF-positive and RF-negative (neg) polyarticular JIA patients, especially at values ≥0.5 ng/mL (associated with poor outcomes in adults), was also highest. Several JIA patients with 14-3-3η positivity developed RF and anti-CCP positivity later in their disease. Significant levels of 14-3-3η can be found in approximately 30% of RF-pos and RF-neg patients with polyarticular JIA. This protein may represent a new biomarker for polyarticular JIA, particularly RF-neg polyarticular JIA. Full article

Congenital pericardial cysts are rare anomalies caused by the failure of fetal lacunae to coalesce into pericardial coelom. In this article a 9-year-old boy admitted with complain of palpitation in daily activities. The electrocardiography detected sinus tachycardia of 150 beats per minute with normal axis. Although chest X ray were normal, echocardiography showed an abnormal mass that compressed the posterior wall of left ventricle. The mass was extrinsic and confined to the pericardium. After midsternotomy, a huge cyst was found and totally excised. The complications of pericardial cyst can be significant, and the diagnosis relies on a careful examination and radiographic findings. Full article

Congenital anomalies may have an increased risk of noncommunicable diseases (NCDs) We performed a clinical exome analysis in an infant affected by “Vertebral, Anorectal, Cardiac, Tracheoesophageal, Genitourinary, and Limb” (VACTERL) malformation association to identify potential biomarkers that may be helpful for preventing malignancy risk or other chronic processes. Among the variants, six variants that may be linked with VACTERL were identified in the exome analysis. The variants c.501G>C on OLR1 and c.-8C>G on PSMA6 were previously associated with myocardial infarction. The variants c.1936A>G on AKAP10 and c.575A>G on PON1 are linked to defects in cardiac conduction and artery disease, respectively. Alterations in metabolism were also suggested by the variants c.860G>A on EPHX2 and c.214C>A on GHRL. In addition, three variants associated with colon cancer were discovered. Specifically, the reported variants were c.723G>A on CCND1 and c.91T>A on AURKA proto-oncogenes as well as c.827A>C in the tumor suppressor PTPRJ. A further inspection identified 15 rare variants carried by cancer genes. Specifically, these mutations are located on five tumor suppressors (SDHA, RB1CC1, PTCH1, DMBT1, BCR) and eight proto-oncogenes (MERTK, CSF1R, MYB, ROS1, PCM1, FGFR2, MYH11, BRCC3) and have an allele frequency lower than 0.01 in the Genome Aggregation Database (GnomAD). We observed that the cardiac and metabolic phenotypic traits are linked with the genotype of the patient. In addition, the risk of developing neoplasia cannot be excluded a priori. Long-term surgical issues of patients with VATER syndrome could benefit from the clinical exome sequencing of a personalized risk assessment for the appearance of further disease in pubertal timing and adult age. Full article

While numerous treatments for ASD are available, intervention based on the principles and procedures of Applied Behavior Analysis (ABA) has garnered substantial scientific support. In this study we evaluated the effects of the lockdown during the COVID-19 pandemic outbreak, followed by quarantine provisions and during the three months after the resumption of activities. The study was conducted on a group of children taking part on a ABA-based intervention funded by the Local Health Authority (ASL) of the province of Caserta. In this study we considered a sample of 88 children who had been diagnosed with Autism Spectrum Disorder, aged between 18 and 30 months. The following inclusion criteria were observed: age at the time of diagnosis less than 30 months, absence of other neurological, genetic, or sensorineural pathologies, and severity level 1 measured by symptoms evaluation based on the ADOS 2 module T (used for diagnosis). During the lockdown children experienced improvements in communication, socialization, and personal autonomy. During the three months after the ABA treatment, the acquired skills were maintained but no significant improvement was demonstrated. In this study, we describe how parent training was significant in avoiding delays in the generalization of socially significant behaviors, following the drastic interruption of the treatment in this group of children. Full article

The confirmed cases with COVID-19 in children account for just 1% of the overall confirmed cases. Severe COVID-19 in children is rare. Case Presentation: Our patient was 16 years old with a severe case of COVID-19 and did not survive due to the presence of Granulomatosis with polyangiitis and being treated with immunosuppressive drugs. We used lopinavir, ritonavir, hydroxy chloroquine, intravenous immunoglobulin and continuous veno-venous hemodialysis for treatment. Conclusion: In this patient, an underlying disease and delayed admission to the hospital were two factors complicating his condition. Full article

Since the earliest stages of the Corona Virus Disease-19 (COVID-19) spread, the elderly has been identified as the most vulnerable and health authorities have rightly focused on that population. Minor attention was paid to pediatric populations and their emotional reactions. Actually, children and adolescents faced severe anxiety, fear and stress conditions. An efficient management of the pandemic, therefore, must take into account the pediatric population which cannot be neglected as a minor matter compared to the elderly, the economy and health care. Since the lockdown time is over, children and adolescents must recover sociality, return to living in the open air, rediscover playing, free time, aiming for the beauty of their everyday life. In order to mitigate the long-term impact of COVID-19, the key response is the reassuring presence of the adult as ‘a secure base’. The current study aimed to collect an overview of the recent references that report evidence on the role of adults in containing pandemic anxiety COVID-19 in pediatric populations, suggesting the need to ensure a reassuring presence of the adult, an effective child-parent communication, a child-friendly day and a long-lasting shared time with parents. Full article

About 2–5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations. Full article

Objective: To assess the magnitude and associated factors of timely initiation of breastfeeding among cesarean section delivered mothers. Methods: A health facility-based cross-sectional study was employed among 421 systematically selected mothers from February to June, 2017. Data were collected by a structured questionnaire. Data entry and analysis was done using Epi Data and SPSS version 24. Binary logistic regression was computed to identify factors. Adjusted odds ratio with a 95% confidence interval was used to declare statistical significance. Result: The magnitude of timely initiation of breast feeding (among mothers who gave birth by cesarean section was 57%. Counseling during antenatal care (AOR = 3.32; 95% CI: 1.80, 6.13), facility where cesarean section (CS) was performed (AOR = 2.55; 95% CI: 1.57, 4.14), and post-CS counseling (AOR = 6.93; 95% CI: 3.99, 12.02) were factors that contributed for the practice of timely initiation among cesarean section delivered mothers. Conclusions: The magnitude of TIBF was good. Counseling during ANC, the facility where CS was performed and post-natal advice were factors associated with TIBF. Implementation of baby-friendly hospital initiatives should be strengthened in order to promote timely initiation of breast feeding. Full article

Allogeneic hematopoietic stem-cell transplantation is a well-known curative treatment for patients with chronic granulomatous disease. We present our experiment regarding ten patients with chronic granulomatous disease who underwent a reduced intensity conditioning regimen consisting of melfalan, fludarabine, and antithymocyte globulin. Donor lymphocyte infusion was used in three representative patients who developed mixed donor chimerism. After at least 2 years of median follow-up, 8 of the 10 patients are alive and well. Full article

We describe a case of Pediatric Inflammatory Multisystem Syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in an 8-year-old child. The patient developed multiorgan dysfunction, including mixed shock, cardiac dysfunction with myocarditis, pneumonia, acute kidney failure, and gastrointestinal involvement characterized by inflammation of the wall of the bowel and pancreatitis. After treatment with Tocilizumab and corticoid therapy, he presented clinical improvement and normalization of inflammatory markers. PIMS-TS is a new disease developed in a small percentage of patients, so a high degree of suspicion is necessary to establish the diagnosis. Supportive care is of paramount importance. The use of Tocilizumab to control the inflammatory response is likely to be beneficial, but the best immunotherapeutic agent has not yet been established. Randomized clinical studies should be run to determine the best treatment. Full article

Background: While parental education and family socioeconomic status (SES) are associated with an increase in children’s cognitive functioning, and less is known about racial variation in these effects. Minorities’ Diminished Returns (MDRs) suggest that, under racism and social stratification, family SES and particularly parental education show weaker effects on children’s tangible outcomes for marginalized, racialized, and minoritized families, particularly Blacks, compared to Whites. Aim: We conducted this study to compare the effect of parental education on children’s mental rotation abilities, as an important aspect of cognitive function, by race. Methods: This cross-sectional study included 11,135 9–10-year-old American children. Data came from baseline of the Adolescent Brain Cognitive Development (ABCD) study. The independent variable was parental education. The dependent variable, mental rotation, was measured by the Little Man Task. Ethnicity, gender, age, marital status, and household income were the covariates. Results: Parental education was positively associated with mental rotation. However, parental education showed a weaker association with mental rotation in Black than in White families. This was documented by a significant interaction between race and parental education on children’s efficiency score. Conclusion: Parental education shows a weaker correlation with mental rotation of Black rather than White children, which is probably because of racism, social stratification, and discrimination. This finding is in line with the MDRs phenomenon and suggests that marginalization and racism may interfere with the influences of parental assets and resources and Black American children’s development. Full article

Pyomyositis is a rare condition in temperate climates. We present a case of Methicillin Resistant Staphylococcus aureus pyomyositis of the shoulder complicated by multifocal lung infiltrations, treated successfully with antibiotic therapy. After excluding shoulder septic arthritis, a low threshold of suspicion for the diagnosis of shoulder pyomyositis should be applied to patients with persistent fever, pain, and decreased range of shoulder motion. A prompt diagnosis and a rapid rise in antibiotic therapy are important to avoid local and systemic complications. Full article

During the coronavirus disease of 2019 (COVID-19) emergency, in the pediatric surgical setting, it has been essential to avoid and contain infections as well as to protect both the patients and the surgical team. During this emergency, procedures and workflow were adapted to provide the safest possible environment for both the surgical team and the patients. Pediatric surgical activities were reorganized during the COVID-19 pandemic at the “Vittore Buzzi” Children’s Hospital, which is a pediatric/maternal hospital located in Milan (Lombardy Region), Italy. Resources were optimized in order to maintain high levels of care and quality of assistance. During the COVID-19 emergency, the pediatric surgical department at the “Vittore Buzzi” Children’s Hospital became an acute care surgical service. For the reorganization of surgical activities, institutional protocols were adapted in order to preserve the pediatric-specific characteristics of our service; five crucial points were specifically addressed. The pediatric surgical procedures carried out during the initial two months of the Italian lockdown are also reported. Continuity of care was maintained for children affected by severe diseases, such as tumors and neurosurgical conditions, whose treatment could not be deferred. Telemedicine and telecommunication were adopted as quick-support modalities for pre- and post-operative care. This reorganization allowed us to preserve the “pediatric specificity” and all care-related procedures offered at this high-quality/high-volume surgical care referral center. Full article