International Journal of Pediatrics and Adolescent Medicine最新文献

Abdominal pain is a frequent complaint in children, leading them to seek medical attention. It can have several causes, though acute appendicitis is the most feared diagnosis when pain is localized in the right iliac fossa. We report a case of an 8-year-old boy with the complaint of acute abdominal pain, initially referred by his family doctor to a radiologist for an abdominal ultrasound (US) for suspected acute appendicitis. A fortuitous diagnosis of giant hydronephrosis (GH) was made upon admission, which showed the palpation of a huge poorly delineated abdominal mass that was probably missed at the previous examination by the general physician (GP). Uroscan confirmed the diagnosis of GH secondary to obstruction at the ureteropelvic junction. A renal MAG3 (mercaptuacetyltriglycine) scan showed revealed differential renal function (15%) on the right side, normal on the left side. Robot-assisted right pyeloplasty with the transposition of right lower polar vessels via trans-peritoneal laparoscopy was performed, and JJ probe left in-situ for a month. The boy is doing well and is under active follow-up. GH is rare; its diagnosis requires both meticulous examination and a high index of suspicion. Its management is uncodified but in children, pyeloplasty is preferred to nephrectomy.

Embryonal tumor with multilayered rosettes (ETMR), C19MC-altered is a newly designated entity of the embryonal tumors of the central nervous system (CNS) according to the 2016 WHO classification system of CNS. Characteristically, these tumors are newly defined based on their specific molecular genetic amplification in chromosome 19q13.42 found at locus C19MC. To the best of our knowledge, we present the first reported case of ETMR in Saudi Arabian pediatric population. A 2-year-old boy presented to the hospital with generalized tonic-colonic seizure, vomiting, irritability, and inability to walk. Computed tomography (CT) scan showed a large left thalamic supratentorial brain tumor. The tumor measured 6.1 × 5.6 × 5.6 cm and was characterized by cystic changes, prominent vasculature, and calcifications. Histopathology, immunohistochemistry examination, and fluorescence in situ hybridization (FISH) analysis confirmed the diagnosis of ETMR. In addition to reporting this rare case, we provide a brief literature review, treatment options, patient outcome, and disease prognosis.

Background

Sickle cell disease (SCD) is a wide prevalence disease worldwide. It has a spectrum of clinical manifestations. However, SCD patients are more susceptible to have a serious bacterial infection (SBI) as compared to other individuals.

Objective

The main objective of this study was to investigate the prevalence rate of serious bacterial infection (SBI) in febrile children with sickle cell disease (SCD), whose vaccinations are up to date and are on regular penicillin prophylaxis, presented to the emergency department (ED) to assist in the management approach of such patients.

Methods

A retrospective study included febrile SCD children under 12 years of age between 2014 and 2019 at King Saud Medical City (KSMC) in Riyadh, Saudi Arabia. Patients were stratified according to the true culture result of each febrile event. Descriptive statistics were used to report data from the patient's medical records.

Results

From 833 febrile events, 40 events were assessed for eligibility with positive culture results. Of these, 10 were excluded due to contamination. The rest, 30 children with confirmed SBI (3.6%, 30/833) (95% CI = 2.4%–5.1%) were recruited. The highest prevalence rate of SBI was for urinary tract infection (UTI) (2.2%, 19/833) (95% CI = 1.4%–3.5%), followed by bacteremia (1.3%, 11/833) (95% CI = 0.7–2.4), osteomyelitis (0.24%, 2/833) (95% CI = 0.03–0.86) and meningitis (0.12%, 1/833) (95% CI = 0.00–0.67). Pneumococcal was the most common isolate among children with bacteremia (46%, 5/11) followed by Salmonella species (36%, 4/11). All the children fully recovered.

Conclusion

As the prevalence of SBI, particularly bacteremia, continues to decline with a favorable outcome in our population, ambulatory management practices for well-presented febrile SCD children should be encouraged, for there are no further reasons for admission and the patient can return soon to their hospital if his condition worsens or there is growth in the blood culture. Further effort is needed to determine whether blood culture and empiric antibiotics are necessary for each febrile event in the probable highly active vaccination era.

Background and objective

Clinical, laboratory and outcome data were reviewed for pediatric patients who were diagnosed with chronic myeloid leukemia (CML) and managed at two tertiary care hospitals in Saudi Arabia, between January 2011 and December 2017 to assess the response to tyrosine kinase inhibitors (TKI) focusing on the monitoring of BCR-ABL fusion gene transcript levels and to look at the overall outcome.

Methods

CML patients were identified based on the cytogenetic and molecular results.

Results

Twelve pediatric patients diagnosed with CML at a median age of 8.4 year; treated with TKI as first-line therapy, 11 (91.7%) patients were started with imatinib (first-generation TKI), while one received dasatinib (second-generation TKI) due to his three-way Philadelphia chromosome sensitivity. Eight patients (72.7%) starting on imatinib were switched to dasatinib (six patients due to drug resistance, and two patients due to intolerance of Imatinib) and two patients (25%) of whom had already achieved major molecular response (MMR) on Imatinib. Response rate to imatinib in terms of achieving MMR as first-line therapy was achieved in five out of 11 patients (45.5%) and only three of them continued to maintain their MMR. Six out of eight patients who were switched to dasatinib achieved MMR. Two patients underwent hematopoietic stem cell transplant (SCT): one due to blast crisis and one due to the side effects of TKI. With a median follow-up time of 78 months (range, 40.5–108), all of our patients were alive at last update.

Conclusion

We report an excellent outcome with an overall survival (OS) of 100% at 5-year and disease-free survival (DFS) of 91.7% (8.0%). All our patients achieved MMR and only one patient had loss of MMR on follow-up. Eight patients (66.7%) achieved complete molecular response (CMR).

Mycophenolic acid [MPA] is a powerful inhibitor of lymphocyte proliferation. Although this drug has been used across the globe for various maternal comorbidities, multiple concerns have been raised regarding its teratogenic effects. The Food and Drug Administration has changed its category to drug category D (evidence of fetal risk) in 2007. A wide range of congenital malformations in infants born to a mother using this medication have been described in the literature, but there is no specific set pattern of these malformations. We report a case of a female infant who had exposure to mycophenolate by maternal use during the initial phase of 1st trimester of her pregnancy and ended up having multiple congenital malformations. She was managed with multidisciplinary approach and was finally discharged home on respiratory support, after two months of hospital stay. The fact that our patient shared a pattern of congenital malformations with other reported cases who were exposed to mycophenolate in utero strongly suggests that mycophenolate had a causal role and that there might be an emerging fetal mycophenolate mofetil syndrome (FMMS).

Laryngeal web is a rare congenital or acquired disease that results in airway stenosis. Depending on the severity of atresia, patients with laryngeal web show a wide variety of symptoms ranging from asymptomatic to life-threatening respiratory dysfunction that may require emergency tracheostomy immediately after birth. We report a neonatal case of laryngeal web with 22q11.2 deletion syndrome. Post-delivery, the infant showed dysphonia and had a ventricular septal defect with characteristic craniofacial features. The infant underwent an endoscopic incision of the web and cardiac surgery. Among patients with laryngeal web, 30% have 22q11.2 deletion syndrome. 22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome and the second most common chromosomal abnormality associated with congenital heart disease. Therefore, if an infant has laryngeal web with comorbidities such as congenital heart disease, 22q11.2 deletion syndrome should be considered in differential diagnosis.

Objective

To assess the attitudes of pediatricians working at the Ministry of National Guard-Health Affairs (MNGHA) to report cases of child sexual abuse (CSA) and to determine the association between the demographic, cultural characteristics, and the attitude toward reporting.

Participants and Settings

The participants included all pediatricians, from consultants to residents, employed at the Pediatric Department of the King Abdulaziz Medical City and King Abdullah Specialist Children's Hospital, Riyadh. Additional inclusion criteria were females and males, Saudis and non-Saudis, and age 20–60 years.

Methods

A self-administered, hard copy questionnaire was distributed to 277 pediatricians, and the response rate was 58.48%. The sensitivity/specificity emphasis mean score was calculated. Categorical variables were tested against the sensitivity/specificity emphasis mean score using an ANOVA and an independent sample t-test. The reliability of the questionnaire was measured with Cronbach's alpha.

Results

In total, 153 completed questionnaires were analyzed. The responses were inclined toward balanced (indecisive toward reporting) and high specificity (favors the decision not to report suspected CSA). No significant difference was found in the sensitivity/specificity mean score between the different levels of professionals, experience, age, gender, and number of prior child abuse-related courses. The skepticism scale showed, for the different professional levels, that the staff physician/resident believed the 3- to 5-year-old girls and boys to be genuine. The consultants/associate consultants believed 6- to 12-year and 13- to 17-year-old girls and boys to be true most of the time. Nearly half of the participants indicated that their reporting decision was affected by the possible consequences of reporting suspected CSA for the children's families and the social perceptions of sexually abused children as adults.

Conclusion

The results highlight the low reporting rates of CSA cases. The findings suggest a lack of training and experience of the professionals in this area of assessing, detecting, and reporting CSA cases.

Introduction

Bacterial infections in CF patients are common and start early in life. The prognosis of the disease is substantially dependent on chronic respiratory infection and inflammation. Pseudomonas aeruginosa (PA) infection or chronic colonization have been established to cause a chronic decline in pulmonary function (PFT), and/or increase CF mortality.

Objectives

To obtain the prevalence of all bacterial pathogens in our CF patients and assess their evolution over time.

Method

A retrospective review of 327 patients with confirmed CF of all age groups, who had respiratory culture samples at the first visit and on a regular follow-up between January 1, 1990 and December 2018, was conducted.

Results

A total of 327 patients had a respiratory culture obtained at presentation. Two hundred and sixteen (66%) of 327 patients are alive, while 111 (34%) have died. Respiratory cultures were taken from nasopharyngeal aspiration (NPA) in 199 patients (61%), tracheal aspirate in 9 (3%), bronchoalveolar lavage (BAL)in one (0.29%), and in 124 patients (38%), sputum was induced. The eastern province contributed to the highest number of patients (122, 37.7%). There is a persistent increase in the prevalence of the common bacteria over the follow-up period of 7 years, namely Hemophilus influenzae (H. influenzae), Staphylococcus aureus (S. aureus), and all Pseudomonas (P. aeruginosa) culture types.

Comparing cultures from the first and last follow-up visits, there was an increase in the prevalence of all (P. aeruginosa) cultures from 120 (34%) to 137 (53%), and a decrease in the prevalence of (S. aureus) and (H. influenzae) during the same follow-up period.

Conclusion

There is a progressive increase in the number of patients with the most pathogenic types of bacteria because of the advanced age at presentation. As more adult patients are enrolled, there is a need for improved awareness regarding the early eradication of pathogenic bacteria to prevent progressive pulmonary damage.

A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs more than the upper limbs, severe joint contractures with restricted movement, failure to thrive, hypertonia, and camptodactyly of the index fingers. During infancy, the baby is noted to have sucking and swallowing difficulties necessitated nasogastric tube feeding, and recurrent respiratory distress episodes with frequent admissions due to respiratory failure required intensive care admission and mechanical ventilation. The skeletal survey demonstrated dysplasia of long bones and spine. To investigate a suspect genetic syndrome, a whole-exome sequencing test was performed, which identified a novel homozygous mutation in the LIFR gene.

Background

Lavender essential oil and tea tree essential oil have become popular ingredients in personal care and household products in recent decades. Questions regarding the safety of these oils in pediatric populations have been raised, proposing a link between these essential oils and endocrine disruption in children, specifically prepubertal gynecomastia. To date, no epidemiological studies have been conducted to evaluate this proposed link.

Methods

This is a cross sectional study conducted among parents of children in the United States to identify the prevalence of endocrine disruption in children aged 2–15 years old. This study also evaluates the potential for a relationship between the exposure of lavender essential oil and tea tree essential oil products and endocrine disrupting outcomes.

Results

In 556 children with a mean age of 6.33 (SD = 3.92), prevalence of endocrine disruption was .016 (SD = 0.13). No cases of prepubertal gynecomastia were identified in either group, and prevalence of precocious puberty, delayed puberty, growth hormone deficiency, and hypothyroidism were all consistent with population norms. Total risk of endocrine disorders among those exposed (0.0194) did not differ from the risk of those unexposed (0.0069). The risk ratio was 2.796 (95% CI: 0.352, 22.163, P = .458).

Conclusion

Children who were regularly exposed to lavender or tea tree essential oils experienced the same risk of endocrine disorders as those who were not exposed.