Pediatric Patients Research Articles

Retrospective analysis of veno-occlusive disease/sinusoidal obstruction syndrome in paediatric patients undergoing hematopoietic cell transplantation -a multicentre study

BackgroundSinusoidal obstructive syndrome is a potentially fatal complication following hematopoietic cell transplantation, high-intensity chemotherapies and increasingly seen with calicheamicin based leukaemia therapies. Paediatric specific European Society for Blood and Marrow Transplantation (pEBMT) diagnostic criteria have demonstrated benefit in single centre studies compared to historic criteria. Yet, the extent to which they have been universally implemented remains unclear. MethodsWe conducted a retrospective multi-centre study to examine the potential impact of the Baltimore, modified Seattle and pEBMT criteria on the incidence, severity, and outcomes of sinusoidal obstructive syndrome among paediatric hematopoietic cell transplantation patients. FindingsThe incidence of sinusoidal obstructive syndrome in this cohort (n=488) was higher by pEBMT (21·5%) versus historic modified Seattle (15·6%) and Baltimore (7·0%) criteria (p<0·001). Application of pEBMT criteria identified 44 patients who were not previously diagnosed with sinusoidal obstructive syndrome. Overall, 70·5% of all patients diagnosed with sinusoidal obstructive syndrome ultimately developed severe/very severe disease and almost half of diagnosed patients required critical care support. Overall survival was significantly lower in patients who were diagnosed with sinusoidal obstructive syndrome versus those who were not. InterpretationTaken together, pEBMT criteria may be a sensitive method for prompter diagnosis of patients who subsequently develop severe/very severe sinusoidal obstructive syndrome. To our knowledge, this is the first multi-centre study in the United States (US) to demonstrate that pEBMT guidelines are associated with earlier detection of sinusoidal obstructive syndrome. Since early initiation of definitive treatment for sinusoidal obstructive syndrome has been associated with improved survival in paediatric patients and implementation of pEBMT criteria appears feasible in the US, universal adoption should facilitate prompter diagnosis and lead to improved outcomes of children with sinusoidal obstructive syndrome.Funding: None

A novel approach to reducing hepatotoxicity related to fungal prophylaxis in pediatric lung transplant recipients.

Pediatric lung transplant patients are at risk for developing invasive fungal infections post-transplant. No consensus exists on optimal antifungal regimens and voriconazole, a common first-line agent, has been shown to cause hepatotoxicity. We describe a single-center experience utilizing a novel antifungal regimen of intravenous micafungin and nebulized amphotericin B immediately post-transplant with conversion to an azole at the time of hospital discharge and compare it to a historical cohort of patients who received voriconazole monotherapy throughout their immediate post-operative course. This is a retrospective review of patients in the age 0-18 who received a lung transplant from June 2016-May 2021. Data points collected included: demographic data, transplant date and discharge date, Aspergillus colonization, type of lung transplant, hospitalization and level of care information, induction and antifungal medication regimen; AST, ALT, GGT, bilirubin, and direct bilirubin at various timepoints; and respiratory and blood culture results. The two patient groups were compared by assessment of changes in LFTs and culture results. Forty-two patients were included in the analysis, with 24 patients receiving micafungin and nebulized amphotericin and 18 patients receiving voriconazole. All patients in both groups experienced a post-operative elevation in at least one transaminase or bilirubin. More patients in the micafungin/amphotericin group had resolution of all abnormal LFTs by 1 month post-transplant (p = .036). Additionally, patients in the micafungin/amphotericin group experienced faster normalization of their LFTs compared with the voriconazole group (p < .001). Ten patients in the micafungin/amphotericin group and five patients in the voriconazole group were found to have fungal growth on culture post-transplant, but this difference was not found to be statistically significant (p = .507). An antifungal regimen of micafungin and nebulized amphotericin B liposomal may be useful at decreasing the duration of elevated liver enzymes in pediatric patients in the immediate post-lung transplant period when compared with voriconazole monotherapy. Larger prospective studies looking at antifungal regimens in pediatric patients post-lung transplant are warranted.

A new method to predict venous complications in pediatric liver transplantation: Evaluation of splenic parameters by ultrasonography.

Venous complications after pediatric liver transplantation seriously affect the survival rate of patients and grafts. At present, the diagnostic indicators have not been unified. Venous complications may cause portal hypertension, which may lead to splenomegaly and splenic vein dilatation. Therefore, the changes in spleen may be closely related to the venous complications. The purpose of this study was to explore the relationship between ultrasonic splenic parameters and venous complications and to study whether these splenic parameters can be used for the diagnosis of venous complications. We retrospectively included pediatric patients who underwent liver transplantation and collected ultrasonic spleen parameters before, and then 1-3 days, 1-3 weeks, 1-3 months, and 4-12 months after liver transplantation. We observed whether there were portal vein or hepatic vein complications within 1 year after liver transplantation. Among 109 pediatric patients after liver transplantation included in our study, 11 of them suffered from portal vein complications and nine hepatic vein complications. Spleen transverse diameter, spleen longitudinal diameter, spleen portal vein diameter, spleen index, spleen transverse diameter ratio, spleen longitudinal diameter ratio, and spleen index ratio were independent risk factors of venous complications. The accuracy of spleen transverse diameter (AUROC: 0.73), spleen index (AUROC: 0.70), spleen transverse diameter ratio (AUROC: 0.71), and spleen index ratio (AUROC: 0.72) in predicting venous complications were higher than other ones. Ultrasonic examination is a common follow-up method for pediatric patients after liver transplantation and the application of ultrasonic spleen parameters may be helpful to monitor venous complications.

Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy.

We investigated the safety and efficacy of haploidentical stem cell transplantation (SCT) in pediatric patients with X-linked adrenoleukodystrophy (ALD). A retrospective analysis of transplantation data from 29 cases of ALD, treated between December 2014 and April 2022, was conducted. Neurologic function scores (NFS) were assessed. The conditioning regimen was busulfan 9.6 mg/kg, cyclophosphamide 200 mg/kg, and fludarabine 90 mg/m2 (BFC). Graft-versus-host disease prophylaxis consisted of anti-human thymocyte globulin, cyclosporine A, mycophenolate mofetil, and short course of methotrexate. Among the 29 cases, 14 cases (NFS = 0) were asymptomatic, and 15 (NFS ≥ 1) were symptomatic. The median age at SCT was 8 years (range: 4-16 years); the median follow-up time was 1058 days (range: 398-3092 days); 28 cases were father donors and 1 case was a grandfather donor. Hematopoietic reconstitution was successful in all patients, and all of them achieved complete donor chimerism at the time of engraftment. The leading cause of death was still primary disease progression (n = 4). Survival free of major functional disabilities was 100% in asymptomatic patients versus 66.67% in the symptomatic group (p = .018). BFC regimen used in haploidentical SCT was administered safely without major transplant-related complications even in symptomatic patients, and neurological symptoms were stabilized after SCT.

The Nurse Practitioner’s Role in Safeguarding Children from Physical Abuse

Child physical abuse (CPA) is among the leading causes of morbidity and mortality in young children. Nurse practitioners are ideally positioned to institute prevention strategies against CPA and need to be able to recognize the often subtle or nonspecific features of CPA. Early identification of CPA allows for more prompt intervention, which can ameliorate health outcomes among these highly vulnerable patients. All nurse practitioners, even those with only 1 pediatric patient under their care, need to have basic CPA competencies, including identification of red flags, knowledge of risk factors, provision of appropriate screening, and facilitation of early intervention strategies.

Fast dissolving tablet

Fast dissolving tablets have emerged as a popular dosage form, particularly beneficial for pediatric and geriatric patients facing challenges such as dysphagia or hand tremors. These tablets dissolve quickly in saliva without needing water, enhancing compliance and effectiveness of therapy. They offer advantages like easy portability, accurate dosing, and improved bioavailability. Various technologies, including spray drying and melt granulation, have been developed for their manufacturing. This review provides comprehensive information on fast dissolving tablets, covering their definition, advantages, limitations, challenges, and available formulations. The design of an oral drug delivery system prioritizes convenience in administration and improved patient compliance, making it the preferred route of drug delivery despite certain drawbacks. Over the last decade, there has been a growing demand for Fast Disintegrating Tablets (FDTS), turning this field into a rapidly expanding area within the pharmaceutical industry. The formulation’s popularity and effectiveness have led to the development of various FDT technologies. These technologies aim to achieve rapid tablet disintegration and mouth dissolution within five seconds, eliminating the need for chewing or water intake. This characteristic is particularly advantageous for populations such as pediatrics, geriatrics, and patients facing difficulties in swallowing conventional tablets and capsules. The formulation of an easily administrable dosage form, considering challenges like swallowing difficulties and low patient compliance, has driven the creation of orally disintegrating tablets. Traditional preparation methods include spray drying, freeze drying, direct compression, molding, and sublimation. In addition, new technologies have been devised to enhance the production of orodispersible tablets.

Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study

ABSTRACT Purpose To evaluate the corneal endothelial cell morphology in children with autosomal recessive Alport syndrome (ARAS). Methods This is a longitudinal, prospective cohort study that evaluated pediatric patients with genetically diagnosed ARAS. Fifty-eight eyes of 29 pediatric patients (12 patients, 17 controls) underwent a full ophthalmic examination. Corneal endothelial cell density (ECD) (cells/mm²), coefficient variation (CV) of cell area (polymegathism), the percentage of hexagonal cells (HEX) (pleomorphism), and central corneal thickness (CCT) were analyzed automatically using a noncontact specular microscopy. Results The mean ECD was 2904 ± 355.48 cell/mm² in the ARAS group and 3263.20 ± 261.71 cell/mm² in the control group (p = 0.004). In the ARAS group, the mean CV was 46.53 ± 10.43, which was significantly higher than that in controls (p = 0.026). The mean HEX was 48.86 ± 14.71 in the ARAS group and 59.06 ± 10.64 in the control group (p = 0.038). The mean CCT was 565.26 ± 39.77 µm in the ARAS group and 579.66 ± 31.65 µm in the control group (p = 0.282). The comparison of endothelial cell characteristic of the ARAS group with 1-year follow-up is as follows: The mean ECD decreased from 2904 ± 355.48 cell/mm² to 2735 ± 241.58 cell/mm² (p = 0.003). The mean CV increased from 46.53 ± 10.43 to 47.93 ± 10.50 (p = 0.471). The mean HEX decreased from 48.86 ± 14.71 to 48.50 ± 10.06 (p = 0.916). The mean CCT decreased from 565.26 ± 39.77 µm to 542.86 ± 40.39 µm (p = 0.000). Conclusion Measurement of ECD and percentage of hexagonality can also be used as an indicator of the health of the corneal endothelium. In this study, the mean ECD and HEX were significantly lower in ARAS group than in age-matched pediatric controls. Polymegathism, which reflects cellular stress, was statistically significantly higher in ARAS group. The mean ECD and CCT decreased significantly at 1-year follow-up. This study may demostrated that endothelial damages and stress in ARAS patients appear in childhood and show a rapid increase with age.

Correlating neighborhood-level deprivation and pediatric metabolic dysfunction-associated steatotic liver disease.

The primary objective of this study is to further explore associations between social influencers of health and markers of disease severity at the time of presentation of patients with pediatric metabolic dysfunction-associated steatotic liver disease (MASLD) using neighborhood-level Area Deprivation Index (ADI) scores. A retrospective cross-sectional study was conducted among 344 pediatric MASLD patients. Each patient received an ADI score based on their 9-digit zip code. Groups were defined as low (≤5) and high (6≥) ADI. Associations between ADI and symptomatology and laboratory values at presentation, as well as initial liver biopsy pathology were tested via analyses of covariance, χ2 testing, and logistic regressions. The mean ADI was 6.54 (SD = 2.09). ADI groups did not significantly differ in age of presentation, type of presentation, or associated conditions, except for the higher ADI group having on average lower vitamin D levels (26.70 vs. 29.91, p = 0.02) and being two times more likely to also be diagnosed with low HDL levels (p = 0.04, 95% CI1.04-3.89). Mean transaminases and histopathologic nonalcoholic fatty liver disease (NAFLD) Activity Scores did not significantly differ between ADI groups. Pediatric patients with MASLD in this study span the entire spectrum of neighborhood deprivation. There were no differences in presentation characteristics or severity of MASLD, aside from lower HDL-cholesterol and vitamin D values in the high ADI group. Area deprivation was not predictive of more severe disease as assessed by serum transaminases and liver biopsy NAFLD activity scores.

[Guide for the treatment of acute altered mental status. Iberoamerican Academy of Pediatric Neurology].

In pediatric patients, an acute altered mental status refers to a sudden and significant change in a child's brain function and level of consciousness. It may manifest as confusion, disorientation, agitation, lethargy or even a loss of consciousness. This condition is a medical emergency, and requires immediate evaluation and attention. There are several causes of acute altered mental status in children, including infections of the central nervous system such as meningitis or encephalitis, traumatic brain injury, metabolic disorders, seizures and poisoning, among others. The aim of this study was to analyse, prepare and classify the current literature in order to determine the best recommendations for the treatment of cases of acute altered mental status with various causes in pediatric patients. The study was based on opinions from experts in the field in order to classify the recommendations, and was submitted to the scientific committee of the Iberoamerican Academy of Pediatric Neurology for review. Our guide is an aid for the treatment of this non-specific symptom based on a basic and advanced approach, which can be applied by any pediatric neurologist.

[Analysis of efficacy and prognosis of allogeneic hematopoietic stem cell transplantation for the treatment of combined immunodeficiency].

Objective: To evaluate the efficacy of allogeneic hematopoietic stem cell transplantation for the treatment of combined immunodeficiency (CID) and explore prognostic risk factors. Methods: In this retrospective cohort study, clinical characteristics, laboratory tests and prognosis of 73 CID children who underwent allogeneic hematopoietic stem cell transplantation from February 2014 to April 2022 in the Children's Hospital of Fudan University were analyzed. Based on the subtypes of diseases, all patients were divided into severe combined immunodeficiency disease (SCID) group and other CID group. Based on the types of donors, all patients were divided into matched sibling donor group, matched unrelated donor group, unrelated cord blood group, and haploidentical donor group. Kaplan-Meier method and Log-Rank test were used to analyze the survival data. Cox regression was used to analyze prognostic factors. Results: Among the 73 patients, there were 61 (84%) males and 12 (16%) females. Fifty-five (75%) patients were SCID, and 18 (25%) patients were other CID. Donor source included 2 (3%) matched sibling donors (MSD), 3 (4%) matched unrelated donors (MUD), 64 (88%) unrelated cord blood (UCB), and 4 (5%) haploidentical donors. The age at transplant was 10.7 (5.9, 27.5) months, and the follow-up time was 36.2 (2.5, 62.9) months. The 3-year overall survival rate of 73 patients with CID was (67±6) %. No significant difference was found in the 3-year overall survival rates between patients with SCID (55 cases) and other CID (18 cases) ((64±7) % vs. (78±10) %, χ2=1.31, P=0.252). And no significant difference was found in the 3-year overall survival rates among patients who received MSD or MUD (5 cases), UCB (64 cases), and haploidentical donor (4 cases) transplant (100% (66±6)% vs. (50±25) %, χ2=2.30, P=0.317). Cox regression analysis showed that the medical history of sepsis (HR=2.55, 95%CI 1.05-6.20, P=0.039) and hypoalbuminemia at transplant (HR=2.96, 95%CI 1.14-7.68, P=0.026) were independent risk factors for the prognosis of allogeneic hematopoietic stem cell transplantation in pediatric patients with CID. Conclusions: Allogeneic hematopoietic stem cell transplantation is an effective treatment for CID. The medical history of sepsis and hypoalbuminemia at transplant were risk factors for prognosis. Enhancing infection prevention and nutritional intervention before transplant can improve patient prognosis.

3D printing: a useful tool for safe clinical practice in children with complex vasculature

Background3D printing has been used in different medical contexts, although it is underutilised in paediatrics. We present the first use of 3D printing in the management of three paediatric patients...

Clinical Epidemiological Characteristics and Risk Factors for Severity of SARS-CoV-2 Pneumonia in Pediatric Patients: A Hospital-Based Study in Vietnam

Clinical Epidemiological Characteristics and Risk Factors for Severity of SARS-CoV-2 Pneumonia in Pediatric Patients: A Hospital-Based Study in Vietnam

Esophago-gastric junction findings on high resolution impedance manometry in children with esophageal atresia.

Using high resolution impedance manometry (HRIM), this study characterized the esophago-gastric junction (EGJ) dynamics in children with esophageal atresia (EA). Esophageal HRIM was performed in patients with EA aged less than 18 years. Objective motility patterns were analyzed, and EGJ data reported. Controls were pediatric patients without EA undergoing investigations for consideration of fundoplication surgery. Seventy-five patients (M:F = 43:32, median age 1 year 3 months [3 months-17 years 4 months]) completed 133 HRIM studies. The majority (64/75, 85.3%) had EA with distal tracheo-esophageal fistula. Compared with controls, liquid swallows were poorer in patients with EA, as evident by significant differences in distension pressure emptying and bolus flow time (BFT). The integrated relaxation pressure for thin liquid swallows was significantly different between EA types, as well as when comparing patients with EA with and without previous esophageal dilatations. The BFT for solid swallows was significantly different when compared with EA types. We have utilized HRIM in patients with EA to demonstrate abnormalities in their long-term EGJ function. These abnormalities correlate with poorer esophageal compliance and reduced esophageal peristalsis across the EGJ. Understanding the EGJ function in patients with EA will allow us to tailor long-term management to specific patients.

Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.

Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria. Of these, 10 patients (mean age 11.2 ± 7.4 years) completed the study. Patients were prescribed a personalized high-protein, high-fat diet, comprising 3.0-3.5 g/kg/day of protein and 3.0-4.5 g/kg/day of fat, constituting 18.5%-28% and 70.5%-75.7% of daily energy, respectively. Dietary compliance was ensured and assessed via the regular administration of questionnaires. Our results revealed consistent and significant decreases of 22%, 54%, and 30% in the creatinine kinase, creatine kinase-myocardial band, and lactate dehydrogenase levels, respectively. Echocardiography revealed improvements in the Z-scores of the left ventricular mass and interventricular septum thickness. A significant increase in body muscle mass was observed, and a higher score was achieved using the Daily Activity Questionnaire. Growth monitoring revealed an arrest in the height-SDS at the 6th and 12th months, followed by subsequent improvement at the end of the second year. A gradual and persistent decline in the periods of hypo- and hyperglycemia has been reported. Biotinidase activity decreased, whereas hepatosteatosis increased and then decreased by the end of the study. Implementing a high-protein, high-fat diet and monitoring key parameters in patients with type IIIa GSD can lead to myopathic and cardiac improvements and increased physical activity.

Ultrasound Assessment in Children With Suspected Appendicitis: Time to Revise Diagnostic Criteria: A Prospective Cohort Study.

Background: Although ultrasound is considered the gold standard for the evaluation of children with suspected appendicitis, there is still much debate about the most accurate ultrasound findings. The purpose of this study was to define the best ultrasound signs that could ultimately improve the diagnostic accuracy of ultrasound for diagnosing pediatric acute appendicitis, and to differentiate between simple appendicitis and complicated appendicitis. Patients and Methods: After approval by our Institutional Review Board, a prospective study was carried out from January 1, 2022, to July 31, 2023, in a pediatric emergency department. We included all patients aged under 14 years with suspected appendicitis and ultrasound-visualized appendix. Results: A total of 550 patients presented with suspected appendicitis during the study period. Of these children, 411 had an ultrasound-visualized appendix. Our patients' mean age was 9.4 years. The best positive predictive value of ultrasound was found for appendiceal diameter ≥7.5 mm. The combination of an appendiceal diameter <6 mm and the lack of peri-appendiceal free fluid on ultrasound rules out the diagnosis of appendicitis. The best diagnostic accuracy of ultrasound, which was 92%, was achieved for appendix diameters ≥6.5 mm. The sonographic sign giving the best ultrasound accuracy for diagnosing complicated appendicitis was an appendix diameter ≥9 mm. Conclusions: In conclusion, our present study demonstrated that appendiceal diameter ≥6.5 mm is the gold standard for diagnosing appendicitis in pediatric patients. The combination of an appendiceal diameter <6 mm and the lack of peri-appendiceal free fluid on ultrasound would rule out appendicitis.

Migration of the anal distal end due to ventriculoperitoneal shunt placement: an atypical case report of a 9-month-old infant with tuberculous meningitis and review of the literature.

Ventriculoperitoneal shunt (VPS) represents one of the most classic and widely used treatments for hydrocephalus in pediatric patients. Migration and externalization of the distal end of the catheter through the rectum are extremely rare complications of intestinal perforation with devastating consequences such as meningitis or peritonitis due to enteric bacteria that are significantly life-threatening. Besides, one of the biggest topics with that is that it can happen without producing symptoms, like the patient we present in this case report, which further masks the condition and puts the patient's life more at risk. We present a case of a 9-month-old infant patient, with a history of prematurity, tuberculous meningitis (TBM), and hydrocephalus, who came to ED with a functional VPS and the distal end of the catheter protruding outside the rectum for 7days, without presenting neurological or intestinal symptoms accompanying. One of the parameters that guided the diagnosis and made us suspicious of asymptomatic intestinal perforation (IP) was the background of TMB. The patient was immediately transferred to the OR where both ends of the shunt were removed: in the first instance, the shunt tube was disconnected through the abdomen, thus withdrawing through the anus, and subsequently, the proximal end of the catheter was exteriorized. In turn, the intestinal fistula was successfully repaired laparoscopically, and prophylactic antibiotic treatment was early administered. On the 6th postop day, a shunt was internalized, and a child was discharged on postop day 15 without complications with alarm guidelines. The authors of this article strongly suggest that (1) anal extrusion of catheters is an uncommon complication but real: for this reason, its development should be considered in all patients with VPS, especially in infants. (2) The patients are often asymptomatic since false tracts can form around the catheter protecting it from spillage, and thus can be removed without complications. (3) Special care should be taken in patients with conditions that increase the risk of developing IP, such as TMB.

Magnetic Resonance Imaging Indirect Signs for Anterior Instability of the Lateral Meniscus in Pediatric and Adolescent Patients.

Anterior instability (AI) of the LM is potentially debilitating in young patients. The use of magnetic resonance imaging (MRI) to diagnose AI is limited due to the lack of reliable and accurate MRI findings. The ability to identify AI preoperatively would potentially improve the diagnosis and treatment of this pathology. This study presents a novel MRI finding ("phantom sign") for the detection of AI of the LM and demonstrates its reliability and accuracy. Three independent blinded reviewers performed retrospective review of preoperative MRI for all patients who underwent LM repair between July 1, 2019, and March 31, 2022, at a single center. Positive phantom sign was defined as abnormal signal intensity on MRI of the anterior horn of the LM on the coronal sequence at the anterior tibial insertion of the anterior cruciate ligament (ACL). Preoperative MRI was also evaluated for other signs of LM anterior instability. Intrarater and inter-rater reliability was assessed for rater scoring of presence of pathology on MRI. Predictive ability of each imaging finding with at least good (ICC 0.6 or above) reliability was also evaluated based on documented intraoperative findings. Fifty-five preoperative MRIs of arthroscopically treated LM tears were reviewed. Median age was 15 years (range 6 to 20), and 21 patients (38.2%) were female. Twenty-seven patients (49.1%) had a discoid meniscus. LM AI was present on arthroscopy for 25 knees (45.45%), and among these, 21 had discoid morphology. Interrater reliability was substantial for phantom sign (ICC 0.71, 97.5% CI: 0.55-0.82), posterior displacement (ICC 0.71, 97.5% CI: 0.55-0.82), and posterior "megahorn" (ICC 0.76, 97.5% CI: 0.62-0.85). On predictive analysis, phantom signs were 98% sensitive and 76.7% specific for LM AI. Posterior displacement and posterior megahorn were specific for AI (both 93.34%), though with limited sensitivity (32% and 28.6%, respectively). Phantom sign is a reliable and sensitive MRI finding for anterior instability, even in the absence of frank displacement on preoperative MRI. A positive finding should prompt a thorough arthroscopic evaluation of the anterior horn of the LM. Level III-case control study.

Characterizing Frontal Lobe Seizure Semiology in Children.

The objective was to analyze seizure semiology in pediatric frontal lobe epilepsy patients, considering age, to localize the seizure onset zone for surgical resection in focal epilepsy. Fifty patients were identified retrospectively, who achieved seizure freedom after frontal lobe resective surgery at Great Ormond Street Hospital. Video-electroencephalography recordings of preoperative ictal seizure semiology were analyzed, stratifying the data based on resection region (mesial or lateral frontal lobe) and age at surgery (≤4 vs >4). Pediatric frontal lobe epilepsy is characterized by frequent, short, complex seizures, similar to adult cohorts. Children with mesial onset had higher occurrence of head deviation (either direction: 55.6% vs 17.4%; p = 0.02) and contralateral head deviation (22.2% vs 0.0%; p = 0.03), ictal body-turning (55.6% vs 13.0%; p = 0.006; ipsilateral: 55.6% vs 4.3%; p = 0.0003), and complex motor signs (88.9% vs 56.5%; p = 0.037). Both age groups (≤4 and >4 years) showed hyperkinetic features (21.1% vs 32.1%), contrary to previous reports. The very young group showed more myoclonic (36.8% vs 3.6%; p = 0.005) and hypomotor features (31.6% vs 0.0%; p = 0.003), and fewer behavioral features (36.8% vs 71.4%; p = 0.03) and reduced responsiveness (31.6% vs 78.6%; p = 0.002). This study presents the most extensive semiological analysis of children with confirmed frontal lobe epilepsy. It identifies semiological features that aid in differentiating between mesial and lateral onset. Despite age-dependent differences, typical frontal lobe features, including hyperkinetic seizures, are observed even in very young children. A better understanding of pediatric seizure semiology may enhance the accuracy of onset identification, and enable earlier presurgical evaluation, improving postsurgical outcomes. ANN NEUROL 2024.

Nationwide hospitalizations of patients with down syndrome and congenital heart disease over a 15-year period.

A younger age at first admission is a predictor for mortality in patients with Down syndrome and congenital heart disease. If patients undergo more than one admission, the risk of further readmissions increases. There is a pivotal role for heart disease in influencing the hospitalization rate and subsequent mortality. • Down syndrome individuals often face an increased risk of congenital heart diseases. • Congenital heart diseases contribute significantly to morbidity and mortality in Down syndrome patients. • This study analyzes nationwide data covering a 15-year period of pediatric and adult patients in Italy with Down syndrome and congenital heart disease. • It identifies a younger age at first admission as a predictor for mortality in these patients, emphasizing the criticality of early intervention. • Demonstrates a correlation between multiple admissions, particularly those related to cardiac issues, and an increased risk of further readmissions, providing insights into the ongoing healthcare needs of these individuals.

Splenic hamartomas in children

Splenic hamartomas (SHs) are uncommon, benign vascular lesions of unclear etiology and are mostly found incidentally on abdominal images, at surgery, or at autopsy. Since the first case description, in 1861, less than 50 pediatric SH cases have been reported in the literature. In this article, we have performed an analysis of all SH cases in children published in the literature to date and presented our case of an 8-year-old male with SH. These lesions in children were shown to cause symptoms more often than in the adult population. The observed SH sizes in children ranged from a few millimeters to 18 cm, and the symptomatic lesions were mostly larger or multiple. The most common clinical finding was splenomegaly. Signs of hypersplenism were present in children with a single SH larger than 4.5 cm (diameter range: 4.5-18.0 cm) and in those with multiple hamartomas, ranging from a few millimeters to 5 cm. Eighty percent of patients with available laboratory findings had hematological abnormalities such as anemia, thrombocytopenia, or pancytopenia. Other symptoms and signs included abdominal pain, recurrent infections, fever, night sweats, lethargy, growth retardation, and weight loss. The use of multiple imaging modalities may suggest the preoperative diagnosis of a splenic mass in children and determine the therapeutic approach. However, the final diagnosis of SH relies on histopathological evaluation. Surgery, including total or partial splenectomy (PS), is the mainstay of SH management. Although total splenectomy carries a greater risk of overwhelming post-splenectomy infection than PS it has remained the most performed surgical procedure in children with SH. In the majority of pediatric patients with symptomatic SH, resolution of symptoms and resolution or improvement of cytopenias occurred after surgical treatment.