World journal of clinical pediatrics最新文献

Background: Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000) girls due to de novo mutations in the methyl-CpG binding protein 2 (MECP2) gene mapped to chromosome Xq28. The disease-causing gene was identified as a mutation in the MECP2 gene, which is found in approximately 80% of patients diagnosed with Rett syndrome. Although chromosomal changes resulting in del(15)(q11q13) are usually associated with Angelman and Prader-Willi syndrome, very few cases, if any, of Rett syndrome with terminal 15q22-qter deletion have been published in English literature.

Case summary: In this study, we report an unusual and rare clinical presentation of Rett syndrome in a 12-year-old Sudanese girl. The patient was brought in by her parents, complaining of gradual onset of abnormal walking, abnormal hand movement, loss of speech, and mental retardation for ten years. There was no reported history of convulsions or loss of consciousness. Clinical examination revealed microcephaly with no other apparent dysmorphic features, intact cranial nerves, and abnormal gait. She showed repetitive and stereotyped behaviors, including hand flapping, stimming, and chest pounding, which were concomitant with autism spectrum disorder. Magnetic resonance imaging and electroencephalography investigations were normal, and cytogenetic analysis showed 46,XX, del(15)(q22qter). Further molecular analysis using whole sequencing of MECP2 revealed an alteration cytosine > thymine at nucleotide 401, leading to phenylalanine replacing a serine at amino acid position 134.

Conclusion: This case, the first reported instance of Rett syndrome in Sudan, is of significant interest. The patient carries both the MECP2 gene mutation and the chromosome 15q22-qter deletion, which may explain the autistic behavior with atypical presentation of Rett syndrome. This report expands the genetic diversity of Rett syndrome, demonstrating how co-occurring 15q22-qter deletions can reshape MECP2-associated phenotypes in Rett syndrome.

Background: Due to non-specific and overlapping features, particularly in infants, and a lack of awareness of important signs and symptoms, early diagnosis of sepsis is difficult.

Aim: To identify the determinants for bacterial infection based on clinical evidence and point-of-care (POC) investigations in children at admission to a pediatric emergency medicine (PEM) unit.

Methods: This prospective observational study was conducted in a PEM unit of a tertiary care hospital in Central India. A scoring system based on these determinants for initiation of antibiotics in the golden hour (i.e. the first 60 minutes) was developed, termed as the Children's Antibiotic Requirement Evaluation Score (CARES) Index.

Results: Out of a total of 1419 children presenting to the PEM, 802 children were enrolled. The best predictors of infection were found to be abnormal color, fever, features of fluid overload, altered sensorium, cellulitis, use of antibiotics, and C-reactive protein. These parameters were amalgamated to form the CARES Index, which showed moderate accuracy for determinants of infection for initiation of antibiotics in a pediatric emergency. Among the POC investigations, the sensitivity of the erythrocyte sedimentation rate (80.00%) was maximum, while specificity was highest for procalcitonin (75.31%).

Conclusion: We highlighted the association of clinical parameters, symptoms, and POC investigations in pediatric bacterial infections. Some parameters emerged as strong predictors of sepsis, and no single factor was sufficient for a definitive diagnosis.

Kawasaki disease (KD) is an acute, self-limited systemic vasculitis that primarily affects children. Treating nonresponding KD with intravenous immunoglobulin (IVIG) presents numerous challenges. This article comprehensively reviews the basic theory, clinical manifestations and diagnosis, treatment strategies, disputes and challenges, historical evolution and current situation, and future research directions of immunoglobulin unresponsive KD. In terms of basic theory, the epidemiological characteristics of KD, the mechanism of IVIG action, and the pathophysiological mechanism of the nonresponsive type are elaborated. In the clinical manifestation and diagnosis section, symptoms, diagnostic criteria, and imaging applications are analyzed. The treatment strategy encompasses drug, nondrug and individualized therapy. Controversies and challenges focus on diagnostic difficulties, treatment disputes, and long-term prognosis research. The historical evolution and current situation review the changes in treatment strategies and the current state of affairs. Future research directions anticipate the role of new therapeutic drug research and development, breakthroughs in basic research, and international cooperation, aiming to provide a comprehensive reference for research and clinical practice in this field.

Sleep disturbances and disorders are commonly associated with attention-deficit/hyperactivity disorder (ADHD), with affected children frequently experiencing delayed sleep onset, frequent nighttime awakenings, morning fatigue, and excessive daytime sleepiness. A bidirectional relationship exists between ADHD and sleep disturbances: Sleep deprivation is linked to increased inattention and emotional dysregulation, while evening hyperactivity and impulsivity may contribute to difficulty falling asleep. Central nervous system stimulants remain the first-line treatment for managing ADHD symptoms; however, insomnia can be a common side effect. Notably, newer and long-acting stimulants formulations have demonstrated extended benefit into evening with limited impact on sleep in recent studies. This narrative review summarizes the various sleep disorders associated with ADHD, outlines clinical approaches for sleep assessment, and evaluates the impact of ADHD treatments on sleep. It also highlights both non-pharmacological and pharmacological interventions for managing sleep problems in children with ADHD. Finally, the review offers practical recommendations to help clinicians optimize both sleep and daytime functioning in patients with ADHD. ADHD should be conceptualized as a 24-hour disorder, requiring integrated treatment strategies that address both daytime symptoms and nighttime sleep challenges.

Gestational alloimmune liver disease (GALD), previously known as neonatal hemochromatosis, is a rare antenatal immune condition in which maternal antibodies target the fetal liver, leading to a spectrum of liver injury. Although GALD in the leading cause of neonatal liver failure, recent evidence highlights its association with milder phenotypes. A maternal history of miscarriages or stillbirths may be present. GALD is characterized by hepatic and extrahepatic iron overload sparing the reticuloendothelial system. The transferrin saturation coefficient is the most reliable marker of iron overload, and salivary gland biopsy may assist in diagnosis. Early recognition is crucial, as GALD is treatable. Management involves both acute neonatal treatment and preventive strategies for future pregnancies. Recurrence may reach 90% but can be effectively prevented with antenatal intravenous immunoglobulin therapy. We report four cases of GALD managed in gastroenterology unit of the Sainte-Justine center in Montreal, Canada. A literature review was also conducted to explore the etiopathogenesis, diagnosis, treatment options, and outcomes of the GALD. A total of 39 studies published between 2008 and 2024 were identified through PubMed, Google Scholar, and EMBASE using the terms "gestational alloimmune liver disease" and "neonatal hemochromatosis".

Background: Juvenile arthritis damage index (JADI) is a tool that measures the degree of aggressiveness of the juvenile idiopathic arthritis (JIA) course and assesses articular [JADI - articular damage (JADI-A)] and extraarticular [JADI - extraarticular damage (JADI-E)] damage. While aggressive JIA often requires early biologic disease-modified antirheumatic drugs (bDMARDs), the utility of JADI as a predictor of treatment response remains underexplored.

Aim: To evaluate the potential of JADI as a predictor of bDMARD treatment response in JIA patients.

Methods: This prospective study included 112 highly active non-systemic JIA biologic-naïve patients with a mean age of 12.2 ± 4.6 years and a median disease duration of 2.5 (interquartile range: 1-5) years. Their clinical and radiological assessment, juvenile arthritis disease activity score 71, JADI-A, and JADI-E, were evaluated twice: Before the biologic initiation (baseline) and 12 months after (end of study). At baseline, 50% had any damage, with 43% with articular damage and 23% with extraarticular damage.

Results: During the study, JADI-A/JADI-E improved (33.9%/9.8%), worsened (8.9%/5.4%), or remained unchanged (57.1%/84.8%). Patients with baseline damage had higher markers of JIA activity: Polyarticular course, earlier onset age, ANA-positivity, and more active joints. Patients without initial structural damage (JADI"-") were more likely (odds ratio = 3.8, 95% confidence interval: 1.6-9.0, P < 0.004) to achieve a low degree of activity or remission (46.2%), while on biological therapy, their scores were comparable to JADI-positive (18.3%). Pre-biological joint damage according to the JADI-A index (P = 0.003), wrist (P = 0.035), elbow (P = 0.027), cervical spine limitation of motion (P = 0.051), and erosions confirmed by magnetic resonance imaging (P = 0.002), were associated with poor response to biological treatment and follow-up JIA activity.

Conclusion: Baseline structural damage in JIA is associated with diminished bDMARDs efficacy, increased disability, and shorter remission duration. JADI enhances conventional clinical risk stratification by facilitating timely initiation of bDMARDs, adherence to treat-to-target strategy and tailored patient care.

Background: In this case report, we aimed to raise awareness regarding arrhythmogenic cardiomyopathy (ACM) with inflammatory "hot phase" episodes in pediatric patients, which is often misdiagnosed as myocarditis. This condition, caused by aseptic intracellular inflammation, can be misdiagnosed as acute coronary syndrome or myocardial viral infection, with the latter being particularly common in children. Here, we report two pediatric cases of ACM with "hot phase" episodes and discuss the molecular mechanisms leading to aseptic myocardial inflammation due to desmosome and cytoskeletal damage.

Case summary: The first patient (aged 13 years) was hospitalized after experiencing a single episode of syncope, chest pain, and palpitation. Clinical examination revealed elevated troponin levels, complete right bundle branch block, right ventricular dilation, and normal coronary arteries. Cardiac magnetic resonance imaging (MRI) revealed extensive fibrotic changes in the right ventricle, which was consistent with ACM, and a pathogenic variant in DSG2 confirmed the diagnosis. The second patient (aged 4 years) presented with chest pain and elevated troponin levels. Electrocardiography revealed a left bundle branch block, while echocardiography showed reduced left ventricular contractility. Cardiac MRI demonstrated left ventricular dilation and subepicardial fibrosis. The phenotypic features, such as curly-wool hair, hyperkeratosis, and onychodystrophy, suggested a genetic nature of the disease. Two mutations identified in DSP confirmed the diagnosis of Carvajal syndrome with intermittent "hot phase" episodes.

Conclusion: ACM in children can present with nonspecific inflammatory symptoms, which may be misdiagnosed as myocarditis or coronary artery pathology.

Background: Delayed umbilical cord separation (UCS) defined as failure of umbilical cord fall beyond 3 weeks is seen in up to 10% of newborns. Since delayed UCS can be associated with leukocyte adhesion deficiency (LAD) or coagulation factor XIII deficiency, these children are commonly referred to hematology/oncology for further investigation. Although the incidence of urachal remnants (UR); also associated with delayed UCS, is more common (1.16%) than LAD (1:1000000 births), and coagulation factor XIII deficiency (1:5000000 births) it's less commonly investigated.

Case summary: Two otherwise healthy infants, a 6-week-old female and a 4-week-old male were seen at our hematology/oncology clinic for delayed UCS. In both cases the umbilical cords looked healthy, with no signs of infection or pus, but appeared to show small Umbilical Granulomas. They were both investigated for LAD type I and one was investigated for XIII deficiency, but both tests were negative. These infants however, were investigated via abdominal ultrasound which showed UR in both cases. These infants required no intervention.

Conclusion: This report demonstrates an often overlooked association between delayed UCS and UR and suggests abdominal ultrasound if necessary for diagnosis.

Background: Visual impairment during early childhood can hinder motor, language, and social development, yet data on its developmental impact across common pediatric ocular diseases remain limited.

Aim: To investigate the developmental impact of low vision and blindness on children under six with common ocular diseases.

Methods: This retrospective study reviewed records of new patients under six with visual impairment at Siriraj Hospital's low vision rehabilitation center (January 2017-October 2022). We collected ocular, systemic, and developmental data; recorded visual acuity in the better-seeing eye after refractive correction; and assessed developmental domains with the Denver II. Univariable and multivariable logistic regression identified factors associated with developmental delay.

Results: A total of 161 pediatric patients (mean age 24.9 ± 18.9 months) were enrolled and evaluated based on their ability to fix on and follow an object or light source. Some were further assessed using the Allen picture chart and all had visual acuity worse than 1.07 ± 0.58 LogMAR, and 83.2% were identified as having global developmental delay (GDD). The three most common ocular causes were cortical visual impairment (CVI), optic neuropathy/atrophy, and optic nerve hypoplasia. Extremely poor visual acuity (inability to fixate and follow) was significantly associated with GDD [adjusted odds ratio (AOR) 41.0] and delays in all developmental domains: Gross motor (AOR 10.0), fine motor (AOR 12.8), language (AOR 5.3), and personal-social skills (AOR 13.4) (P ≤ 0.002). Multiple disabilities, most often visual impairment with cerebral palsy, were also significantly associated with gross motor delays (AOR 7.7) and fine motor delays (AOR 4.0) (P < 0.05). CVI was also related to delays in language and personal-social skills (AOR 9.1 each) (P < 0.05).

Conclusion: This study underscores the developmental issues in children with visual impairment, especially those with poorer acuity, CVI, and multiple disabilities. Significant delays were observed in all domains, including GDD. A timely referral to specialists is strongly recommended.

Background: Respiratory syncytial virus (RSV) is a leading cause of lower respiratory tract infections in neonates. While typically associated with bronchiolitis and pneumonia, RSV can rarely cause extrapulmonary complications such as myocarditis, which may present with life-threatening symptoms if not promptly recognized.

Case summary: We describe the case of a 26-day-old male neonate who presented with respiratory distress, poor feeding, and irritability. Initial evaluation revealed an RSV infection confirmed via nasopharyngeal swab. As the clinical course progressed, the infant developed cardiac arrhythmias, elevated cardiac enzymes, and echocardiographic findings consistent with myocarditis. Management included mechanical ventilation, corticosteroid therapy, L-carnitine, and vitamin D supplementation. The patient responded well to treatment and was successfully extubated and discharged in stable condition after nine days of hospitalization.

Conclusion: This case highlights the importance of early recognition and multidisciplinary management of RSV-associated myocarditis in neonates.