Pediatr. Rep., Volume 12, Issue 3 (December 2020) – 15 articles

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

Supraventricular tachyarrhythmia (SVT) is the most common type of arrhythmia in childhood. Management can be challenging with an associated risk of mortality. A female neonate was diagnosed with episodes of SVT, controlled antenatally with digoxin. Flecainide was commenced prophylactically at birth. Despite treatment, the infant developed a narrow complex tachycardia at 5 days of age. The electrocardiogram features were suggestive of either re-entry tachycardia or of automatic atrial tachycardia (AAT). Following several unsuccessful treatments, a wide complex tachycardia developed. A transesophageal electrophysiological study led to a diagnosis of AAT. Stable sinus rhythm was finally achieved through increasing daily administrations of flecainide up to six times a day, in association with nadolol. The shortening of intervals to this extent has never been reported before and supports the evidence of a personal, age-specific variability in pharmacokinetics of flecainide. Larger studies are needed to better define the appropriate dose and timing of administration. Full article

Accidental swallowing of foreign bodies is a common problem among the pediatric population (6 months to 3 years), especially if the foreign body (FB) presents a sharp end that could potentially lead to perforation of the gastrointestinal (GI) tract, resulting in infection and complications. We report the case of a 2-year-old, admitted to the Emergency Department of our hospital after ingesting two FBs classifiable as sharp objects, specifically two metal nails, both approximately 4-cm long, which had been swallowed in one go, as reported by the parents. The patient had been previously admitted to another hospital in the same region, where the Emergency Department (ED) doctors took an X-ray to confirm the ingestion. The foreign bodies ingestion was thus confirmed, and they were, according to their report, located in the GI tract over the stomach. The patient has been monitored through all of his stay in the hospital and the progression of the foreign bodies has been documented with serial X-rays. Since neither clinical nor radiological signs of perforation were present, putting the FBs in the small bowel, a non-operative expectant management was followed. After 4 days of admission, the patient had passed one of the two FBS and later on the second one, without any complication. Thereafter the patient was discharged. The management of sharp gastrointestinal foreign objects ingestion is still debated, and the data of the current literature are poor. A number of case reports and small case series describe successful conservative management for the majority of ingested sharp objects. According to the literature data, our report confirms that the ingestion of sharp objects and relatively big objects in a baby can be successfully non-operatively managed, even despite the age of the patient and though the FBs are multiple. Full article

Pustular abscess formation in the parotid gland is a rare complication following mumps virus infection. This is the second case report of pediatric parotid pustular abscess accompanied with mumps virus infection. Continuous antibiotics prescription without surgery is an eligible treatment for this patient. Full article

Trichohepatoenteric syndrome is an autosomal recessive genetic disease with an estimated prevalence of 1:100,000. The mutation of the disease is placed either in SKIV2L or TTC37 genes. The onset of presentation is variable, but symptoms usually start with intractable diarrhea associated with woolly hair abnormality, immune dysfunction, and sometimes hepatic abnormality. This case is of a 10-month-old girl who was born at 37 + 2 weeks due to symmetrical intrauterine growth restriction (IUGR), with a low birth weight (1320 g). It was noticed during her stay in NICU that she had excessive diarrhea on day 8. Gastroenterology suggested starting an extensively-hydrolyzed formula, but no improvement noticed. The multidisciplinary teams decided to order whole-exome sequencing analysis after excluding diarrhea causes. The analysis detected a new variant mutation (c.1297C > T) p. (Arg433Cys). To our knowledge, this is the first time detected in a homozygous state in the SKIV2L gene, as this variant mutation has not been described in any previous literature. Our case was managed mainly by total parenteral nutrition. The patient responded to the treatment appropriately. Full article

Leydig cell tumor (LCT) is an infrequent stromal neoplasm of the testis with an incidence of less than 3% of all gonadal tumors in the general male population. Only 25% is found in prepubertal children, where Leydig cell tumors are always reported benign. The hospital records of two prepubertal male children, who underwent organ sparing surgery for testicular LCT the last five years, were retrospectively reviewed. In both of them, the lesion was incidentally found during a scrotal ultrasonography for testicular pain. The diagnosis of a benign LCT was based on the pre-operative physical examination and imaging (Ultrasound-US, Magnetic Resonance Imaging-MRI) as well as the negative tumor markers. A testicle-sparing procedure was decided and the pathologic examination of the surgical specimen confirmed the diagnosis. No tumor recurrence was noted on follow-up. Testis-sparing surgery provides the possibility of complete excision of such lesions and should be considered as the treatment of choice. Full article

The urea cycle is a series of metabolic reactions that convert ammonia into urea in order to eliminate it from the body. Urea cycle disorders are characterized by hyperammonemia, which can cause irreversible damages in central nervous system. We report a series of three newborns presenting irritability, poor feeding and tachypnea. Their first gas analysis revealed respiratory alkalosis. Hyperammonemia was confirmed, and three different enzymatic blocks in the urea cycle were diagnosed. Immediate treatment consisted in the removal of ammonia by reduction of the catabolic state, dietary adjustments, use of nitrogen scavenging agents and ultimately hemodiafiltration. Hyperammonemia is a medical emergency whose treatment should not be delayed. This report aims to highlight the importance of suspecting urea cycle disorders in newborns with aspecific signs of hyperammonemia and respiratory alkalosis, and to sum up the broad lines of hyperammonemia management. Full article

Smith–Magenis syndrome (SMS) is a complex disorder characterized by variable mental retardation, sleep disturbances, craniofacial and skeletal anomalies, self-injurious and attention-seeking behaviors, and speech and motor delays. The case of a 14-month-old girl with SMS who was experiencing spasm clusters and sleep disturbances with sleep–wake intervals of 1.5 to 2 h persisting from the neonatal period was examined. The patient’s spasms stopped and interictal electroencephalography did not show epileptic discharges after undergoing a high-dose adrenocorticotropic hormone (ACTH) therapy. Moreover, the patient’s sleep cycle stabilized 1 month after receiving the ACTH therapy. Dramatic reductions in the patient’s self-injurious behaviors were also noted. At 1 year following ACTH treatment, the patient’s improved sleep was maintained. High-dose ACTH treatment was considered to contribute to the normal adaptation of the hypothalamic–pituitary–adrenal axis by regulating the release of corticotropin-releasing hormone, resulting in improvement of the patient’s infantile spasms and sleep disturbances. Full article

An umbilical hernia, although considered a benign condition of childhood, may rarely manifest with serious complications such as incarceration and viscous organ strangulation. One such case is presented in this report in an attempt to enrich the current literature, due to the relative lack of data in regard to complicated umbilical hernias in children and definite guidelines regarding the monitoring and management of uncomplicated cases. In addition, we discuss some of the latest advancements concerning the matter at issue. Full article