Pediatric Population Research Articles

Causes of Acquired Methemoglobinemia – a Retrospective Study at a Large Academic Hospital

Methemoglobinemia is a potentially life-threatening condition caused by the formation of methemoglobin, a form of hemoglobin that cannot bind oxygen. While there are some rare congenital causes of methemoglobinemia, most cases are acquired from the effects of specific drugs or environmental exposures. In this retrospective study, we analyzed a large data set of whole blood samples analyzed for methemoglobin at an academic medical center in Midwestern United States that provides both pediatric and adult services. For a 14 year timeframe (May 2009- June 2023), we performed detailed chart analysis of all patients with a methemoglobin concentration of 3.1% or higher. For an earlier 13 year timeframe (January 1996-April 2009), we performed chart review for all patients with a methemoglobin concentration of 10.0% or higher. For the 2009-2023 data, dapsone was the most frequent cause of methemoglobinemia (methemoglobin 3.1% or higher) in both pediatric (73.3%, 115 clinical encounters, 105 unique patients) and adult (65.3%, 195 clinical encounters, 190 unique patients) populations. Inhaled nitric oxide as medical therapy was the next most frequent cause in both pediatric (18.1%) and adult (13.2%) populations. Causes associated with two or more unique episodes with methemoglobin concentrations of 10.0% and higher included the following: dapsone (n=40 episodes), benzocaine (n=10), recreational use of amyl or isobutyl nitrite (n=3), suicide attempt with sodium nitrite (n=3 with 1 fatality; all 3 cases within last 3 years), food contaminated with nitrates (n=2), and sepsis (n=2). A total of 18 patients received treatment with methylene blue including 5 cases associated with benzocaine and all of the cases associated with amyl nitrite, isobutyl nitrite, sodium nitrite, and contaminated food. Only 3 patients with dapsone-associated methemoglobinemia received methylene blue, reflecting primary management by dose reduction or discontinuation of drug. Overall, our data reinforce previous studies showing dapsone, inhaled nitric oxide, and nitrites as common agents causing methemoglobinemia in a patient population seen at a medical center. Our data also are consistent with recent epidemiology trends showing increase in suicide attempts using sodium nitrite.

The Relationship Between the COVID-19 Pandemic and Pediatric Trauma

IntroductionThe COVID-19 pandemic created difficulties in access to care. There was also increased penetrating trauma in adults, which has been attributed to factors including increased firearm sales and social isolation. However, less is known about the relationship between the pandemic and pediatric trauma patients (PTPs). This study aimed to investigate the national incidence of penetrating trauma in PTPs, hypothesizing a higher rate with onset of the pandemic. We additionally hypothesized increased risk of complications and death in penetrating PTPs after the pandemic versus prepandemic. MethodsWe included all PTPs (aged ≤17-years-old) from the 2017-2020 Trauma Quality Improvement Program database, dividing the dataset into two eras: prepandemic (2017-2019) and pandemic (2020). We performed subset analyses of the pandemic and prepandemic penetrating PTPs. Bivariate analyses and a multivariable logistic regression analysis were performed. ResultsOf the 474,524 PTPs, 123,804 (26.1%) were from the pandemic year. The pandemic era had increased stab wounds (3.3% versus 2.8%, P > 0.001) and gunshot wounds (5.5% versus 4.0%, P < 0.001) compared to the prepandemic era. Among penetrating PTPs, the rates and associated risk of in-hospital complications (2.6% versus 2.8%, P = 0.23) (odds ratio 0.90, confidence interval 0.79-1.02, P = 0.11) and mortality (4.9% versus 5.0%, P = 0.58) (odds ratio 0.90, confidence interval 0.78-1.03, P = 0.12) were similar between time periods. ConclusionsThis national analysis confirms increased penetrating trauma, particularly gunshot wounds in pediatric patients following onset of the COVID-19 pandemic. Despite this increase, there was no elevated risk of death or complications, suggesting that trauma systems adapted to the “dual pandemic” of COVID-19 and firearm violence in the pediatric population.

Frequency of Hematologic and Nonhematologic Conditions in Pediatric Patients with Vascular Anomalies: A Pediatric Health Information System Database Study

Background: Vascular anomalies (VA) are a heterogeneous group of diseases which include vascular malformations and vascular tumors. In the pediatric population, there is a sparsity of data on the frequency of associated hematologic and nonhematologic conditions as well as overall outcomes for patients. Objectives: The objective of this study was to determine the rate of certain concurrent hematologic and nonhematologic conditions in patients with VA who underwent procedures and compare those to patients who did not undergo procedures. To examine the rates of intensive care unit admissions and discharge mortality in patients who had a vascular anomaly. Methods: This is a multicenter retrospective cohort study using data from the Pediatric Health Information System. The database was queried for children 0–18 years old with a diagnosis of a VA who had inpatient encounters between January 2016 and September 2021. Results: The most common hematologic conditions were thrombocytopenia, iron deficiency anemia, and venous thrombosis. The most common nonhematologic condition was electrolyte imbalances. Intensive care unit admissions were highest among patients with other congenital malformations of the peripheral vascular system, cerebral cavernous malformations, and sporadic arteriovenous malformations. Discharge mortality was highest in patients with lymphatic malformations and primary lymphedema. Conclusions: This is the largest database study of pediatric patients with VA and their concurrent medical conditions and outcomes to date. While our study could not prove associations, we hope that our results will serve as a foundation for more extensive research regarding the impact of these identified conditions and outcomes and contribute to improved management of patients with VA.

Arterial Limb Complications of Femoral Venoarterial Extracorporeal Life Support in Adult and Pediatric Populations

Arterial Limb Complications of Femoral Venoarterial Extracorporeal Life Support in Adult and Pediatric Populations

Quantitative sensory testing for assessment of somatosensory function in children and adolescents: a scoping review.

Quantitative sensory testing (QST) refers to a group of noninvasive psychophysical tests that examine responses to a range of calibrated mechanical and thermal stimuli. Quantitative sensory testing has been used extensively in adult pain research and has more recently been applied to pediatric pain research. The aims of this scoping review were to map the current state of the field, to identify gaps in the literature, and to inform directions for future research. Comprehensive searches were run in 5 databases. Titles, abstracts, and full texts were screened by 2 reviewers. Data related to the study aims were extracted and analyzed descriptively. A total of 16,894 unique studies were identified, of which 505 were screened for eligibility. After a full-text review, 301 studies were retained for analysis. Date of publication ranged from 1966 to 2023. However, the majority of studies (61%) were published within the last decade. Studies included participants across the developmental trajectory (ie, early childhood to adolescence) and most often included a combination of school-age children and adolescents (49%). Approximately 23% of studies were conducted in healthy samples. Most studies (71%) used only one QST modality. Only 14% of studies reported using a standardized QST protocol. Quantitative sensory testing in pediatric populations is an emerging and rapidly growing area of pain research. Future work is needed using comprehensive, standardized QST protocols to harness the full potential that this procedure can offer to our understanding of pediatric pain.

Staging and Restaging Pediatric Abdominal and Pelvic Tumors: A Practical Guide.

The most common abdominal malignancies diagnosed in the pediatric population include neuroblastoma, Wilms tumor, hepatoblastoma, lymphoma, germ cell tumor, and rhabdomyosarcoma. There are distinctive imaging findings and patterns of spread for each of these tumors that radiologists must know for diagnosis and staging and for monitoring the patient's response to treatment. The multidisciplinary treatment group that includes oncologists, surgeons, and radiation oncologists relies heavily on imaging evaluation to identify the best treatment course and prognostication of imaging findings, such as the image-defined risk factors for neuroblastomas, the PRETreatment EXtent of Disease staging system for hepatoblastoma, and the Ann Arbor staging system for lymphomas. It is imperative for radiologists to be able to correctly indicate the best imaging methods for diagnosis, staging, and restaging of each of these most prevalent tumors to avoid inconclusive or unnecessary examinations. The authors review in a practical manner the most updated key points in diagnosing and staging disease and assessing response to treatment of the most common pediatric abdominal tumors. ©RSNA, 2024 Supplemental material is available for this article.

Nutritional interventions and BMI dynamics: A comprehensive analysis of growth outcomes in pediatric populations

Introduction: This review article emphasizes the significance of Body Mass Index (BMI) and insulin-like growth factor-1 (IGF1) in evaluating pediatric growth outcomes, particularly for those at risk of undernutrition. The review explores the long-term health consequences of early BMI trajectories, especially their association with cardiometabolic profiles in adulthood. The article also examines the correlation between BMI, insulin-like growth factor 1 (IGF-1), and growth velocity, focusing on their complex interactions in malnourished and obese pediatric populations. Methods: A comprehensive literature search was conducted using PubMed, Google Scholar, and Scopus from 1985 to 2024, focusing on BMI, height growth velocity, IGF1 levels, and the effects of nutritional interventions on pediatric growth outcomes. Studies were included if they focused on children aged 0-18 years and evaluated the impact of BMI and/or nutritional interventions on growth outcomes, with English language articles being prioritized. Review Results: A total of 15 studies involving 4737 participants were analyzed. The review highlights significant findings including the normalization of growth hormone (GH)-IGF axis post nutritional rehabilitation in malnourished children, the rapid response of IGF-1 levels to nutritional interventions, and the influence of protein-rich diets on catch-up growth. Studies also showed that early nutritional support, particularly through human milk, significantly affects IGF-1 levels and that dietary protein intake correlates with IGF-I concentrations and growth in toddlers. Long-term studies indicated that severe malnutrition can have enduring metabolic effects, necessitating sustained nutritional strategies. Discussion: The review highlights the significance of early nutritional support and its impact on IGF-1 levels, which are crucial for healthy growth trajectories. The findings advocate for careful monitoring of early growth rates to optimize long-term health outcomes and stress the importance of adequate protein intake during early childhood. Conclusions: A balanced approach to nutrition, focusing on the interplay between BMI, growth velocities, and IGF1 levels, is crucial in pediatric care. Strategic nutritional interventions, especially those rich in protein, can effectively manage growth outcomes across different BMI categories and improve health trajectories in pediatric populations. This review underscores the need for comprehensive strategies to address nutritional deficiencies and manage growth effectively from infancy through adolescence

Distribution and predictors of F-18-FDG uptake values of non-malignant cervical lymph nodes in pediatric patients.

F-18-flurodeoxyglucose (FDG) PET/CT is routinely used for staging, evaluation of response to treatment and follow-up of most pediatric malignancies. Cervical lymph nodes can be involved in some pediatric malignancies, but increased uptake in non-malignant cervical lymph nodes is not exceptional in this population. The aim of the present study is to identify predictors of the maximum uptake in non-malignant cervical lymph nodes in the pediatric population. 191 FDG PET/CT studies of pediatric patients without malignant involvement of cervical lymph nodes were retrospectively reviewed. The maximal Standard Uptake Value in the hottest cervical lymph node (SUVmaxCLN), as well as demographic, technical and imaging variables were recorded. The predictive effect of those variables on SUVmaxCLN was estimated using linear regression models. Increased FDG activity in cervical nodes was observed in 136/191 studies (71%). The mean SUVmaxCLN was 2.2 ± 1.3. Ipsilateral palatine tonsil SUVmax, mean liver uptake, and treatment status were all statistically significant predictors of SUVmaxCLN. However, in multivariate regression analysis, only ipsilateral palatine tonsil SUVmax was found to be significant.In addition, SUVmaxCLN was greater than the mean liver uptake in 50% of all studies.This proportion was higher in younger children, reaching 77% of studies of children younger than six years. SUVmax in ipsilateral palatine tonsil is a strong predictor of the maximal uptake value of non-malignant cervical lymph nodes in children.The intensity of uptake in non-malignant cervical lymph nodes is frequently higher than liver uptake in children, and this tendency increases for younger patients. In the internal hospital registry under TRN 0209-22-HMO on date 23.04.2022.

Evaluation and Management of Chronic Heart Failure in Children and Adolescents With Congenital Heart Disease: A Scientific Statement From the American Heart Association.

With continued medical and surgical advancements, most children and adolescents with congenital heart disease are expected to survive to adulthood. Chronic heart failure is increasingly being recognized as a major contributor to ongoing morbidity and mortality in this population as it ages, and treatment strategies to prevent and treat heart failure in the pediatric population are needed. In addition to primary myocardial dysfunction, anatomical and pathophysiological abnormalities specific to various congenital heart disease lesions contribute to the development of heart failure and affect potential strategies commonly used to treat adult patients with heart failure. This scientific statement highlights the significant knowledge gaps in understanding the epidemiology, pathophysiology, staging, and outcomes of chronic heart failure in children and adolescents with congenital heart disease not amenable to catheter-based or surgical interventions. Efforts to harmonize the definitions, staging, follow-up, and approach to heart failure in children with congenital heart disease are critical to enable the conduct of rigorous scientific studies to advance our understanding of the actual burden of heart failure in this population and to allow the development of evidence-based heart failure therapies that can improve outcomes for this high-risk cohort.

Candida lusitaniae Fungemia in Children: A multicenter case series of emerging pathogen.

Candida lusitaniae fungemia is a serious infection which is rarely reported in children. The aim of this study is to describe a case series of Candida lusitaniae fungemia and review previous publications regarding this rare pathogen. This is a multicenter case series of children diagnosed with Candida lusitaniae fungemia. Eighteen cases which occurred over a 15-year period in 5 tertiary hospitals were included. Additionally, a review of the literature regarding Candida lusitaniae fungemia in children was performed. Eighteen cases were enrolled, 11/18 (61%) were males, with a mean age of 2.3 years. All patients had severe underlying diseases and risk factors for opportunistic infection, most commonly prematurity and malignancies. More than one third of cases occurred during the last two years of the study period. All isolates were susceptible to all tested antifungals. Survival rate following the acute infection was 94% whereas survival rate of 14 previously published cases was 71% with the most common underlying diseases being CGD and malignancies. Candida lusitaniae fungemia is not a common event in the pediatric population, occurring exclusively in children with severe underlying diseases and significant risk factors. This cohort revealed better clinical outcomes than previously reported. All tested isolates were susceptible to all antifungal agents, variability in susceptibility as previously reported was not found in this study. The allegedly higher rate of infection in recent years is in need of further investigation in larger prospective studies in order to conclude if a real trend is at play.

Pediatric schwannoma of the hypoglossal nerve: a case report and narrative literature overview

Schwannomas are benign, slow-growing tumors originating from the Schwann cells of nerve sheaths. Extracranial schwannomas are rare, particularly in pediatric populations. Here, we report the case of a hypoglossal schwannoma in a 15-year-old male who experienced tongue paresthesia and fasciculations and difficulty swallowing two years before hospital admission. Magnetic resonance imaging showed an oval mass with sharp and regular limits of approximately 45 × 29 × 25 mm in the cranial portion of the right carotid adipose space, caudal to the right carotid and lateral foramen. The patient underwent surgery, and a histological examination confirmed a schwannoma of the hypoglossal nerve. Six months after surgery, the patient was symptom-free. The literature on schwannomas of the hypoglossal nerve is scarce, with only a few previously reported cases in the adult population. Despite their rarity, schwannomas should be considered in the differential diagnosis of masses located in the neck that present with lingual and occasionally auditory symptoms, even in pediatric patients. Surgical resection is recommended and has a low risk of long-term recurrence.

Benign transient hyperphosphatasemia in the pediatric population: a single center cohort study.

Alkaline phosphatase (ALP) can be increased in a benign condition known as benign-transient hyperphosphatasemia (BTH). We aimed to evaluate the demographic, and clinical characteristics of infants and children with BTH. In our retrospective study, infants and children diagnosed with BTH between September 2019 and September 2023 were included. Of 249 children with elevated ALP levels, 95 (38.1 %) had BTH. The mean age at diagnosis of children with BTH was 2.4±1.3 years (min 0.6- max 6.2 years). ALP mean value was 2,587±1252 U/L (min 972- max 5757 U/L). ALP value was an average 7.4±3.6 times higher than the corresponding upper limit of normal. The second measurement was made after an average of 13.2±6days, and a statistically significant difference was detected compared to the first value, with a decrease of 61±23 % in the ALP value (p<0.001). ALP value returned to normal in an average of 44±29.2days. Elevated ALP was detected during infection in 49 (51.6 %) children. When the sample was divided into those under 2 years of age and aged 2 and over, no statistical difference was observed in ALP levels in the time it took for ALP levels to return to the normal range (p=0.480). BTH should be kept in mind if high serum ALP is detected in children without clinical or laboratory suspicion of bone or liver disease. In the follow up detecting a significant decrease trend compared to the first value may be guiding for BTH.

Nutraceuticals and Functional Foods: A Comprehensive Review of Their Role in Bone Health

Bone health is the result of a tightly regulated balance between bone modeling and bone remodeling, and alterations of these processes have been observed in several diseases both in adult and pediatric populations. The imbalance in bone remodeling can ultimately lead to osteoporosis, which is most often associated with aging, but contributing factors can already act during the developmental age, when over a third of bone mass is accumulated. The maintenance of an adequate bone mass is influenced by genetic and environmental factors, such as physical activity and diet, and particularly by an adequate intake of calcium and vitamin D. In addition, it has been claimed that the integration of specific nutraceuticals such as resveratrol, anthocyanins, isoflavones, lycopene, curcumin, lutein, and β-carotene and the intake of bioactive compounds from the diet such as honey, tea, dried plums, blueberry, and olive oil can be efficient strategies for bone loss prevention. Nutraceuticals and functional foods are largely used to provide medical or health benefits, but there is an urge to determine which products have adequate clinical evidence and a strong safety profile. The aim of this review is to explore the scientific and clinical evidence of the positive role of nutraceuticals and functional food in bone health, focusing both on molecular mechanisms and on real-world studies.

Prescribing patterns for hyperopia: an insight of the optometrist perspective and practice

BackgroundTo investigate the current prescribing patterns for correcting hyperopia among optometrists in clinical practice in Saudi Arabia and compare those to current international guidelines. And explore the factors that influence practitioners' prescribing decision.MethodThis cross-sectional study employed 30 items online survey that encompass demographic data, current practice and cycloplegia use, numerical response to indicate the minimum level of hyperopia at which optometrists would consider prescribing spectacles to non-strabismic children and determine the diopter value required for prescribing correction for hyperopia if present with other factors.ResultA total of 104 optometrists responded to the survey (52 females and 52 males). They recruited from 35 cities across Saudi Arabia. Out of total, 44% of them considered cycloplegic refraction essential under 12 years and 56% of them extended the range to 18 years. Large variation were found between the optometrists’ responses and current guideline recommendations. Several factors influenced the decision-making of the practicing optometrist including signs and symptoms, bilateral hyperopia, average dioptric value, reading difficulty, and accommodative function.ConclusionThere are some matches between the international guidelines and the practice patterns that followed by optometrists in Saudi Arabia, however, the optometrists did not report that they are following them purposefully. These findings highlight the need to improve optometrists' practice about spectacle prescription in pediatric population.

Education Model for Paediatric Palliative Care

Introduction: Meeting the palliative care needs of children and their families is complex and challenging. For countries such as Australia, whose relatively small paediatric palliative care population is dispersed across a very large geographical area, one challenge is maintaining a skilled workforce in regional, rural, and remote areas, where, when compared to major cities, there are fewer resources, and the workforce is often transient. Methods: The Quality of Care Collaborative Australia (QuoCCA) Pop-up Model of Education was used to provide palliative care education to health professionals across three geographical locations and facilities, to facilitate a 2,500-km transfer of a child with complex palliative care needs from a tertiary hospital to the remote family home on Country. Results: Each Pop-Up provided effective education to facilitate the successful transfer of the child to the next hospital location. Over 18 months, three Pop-Ups occurred. Relational learning and real-time problem solving enabled health professionals to build confidence and capacity to successfully transfer the child from the regional hospital to the remote family home. Implications: The QuoCCA Education Pop-up Model is a feasible method to deliver timely access to speciality education. The model can be successfully applied in multiple settings. Keywords: paediatric, palliative care, integrated health care delivery, learning, rural, education models.

Respiratory viral coinfections in pediatric patients in the primary care setting: a multicenter prospective study within the COPEDICAT network.

Acute respiratory viral infections pose a significant healthcare burden on the pediatric population globally, but data on the dissemination pattern in the community due to the COVID-19 pandemic are scarce. We conducted a two-year prospective multicenter study in Catalonia (Spain) that examined the prevalence and coinfection dynamics of respiratory viruses among 1276 pediatric patients from different age groups attending primary care. Coinfection analysis demonstrated complex patterns and revealed a coinfection rate of 23.8% for SARS-CoV-2, often in association with rhinovirus or influenza A. This study provides valuable data to understand post-pandemic viral interactions, which is imperative for public health interventions.

No COVID-19 pandemic impact on incidence and clinical presentation of celiac disease in Italian children.

We aimed to evaluate the impact of Coronavirus Disease-19 (COVID-19) pandemic on the incidence and clinical presentation of celiac disease (CD) in children. The diagnoses of CD were compared between the COVID-19 pandemic (from April 2020 to March 2022) and the pre-pandemic period (from April 2018 to March 2020) in three Italian Paediatric Gastroenterology centres (Varese, Como, Catanzaro). Electronic patient records were reviewed and additional information were collected through parental interview. The diagnosis of CD was made according to ESPGHAN criteria. SARS-CoV-2 infection was diagnosed based on pre-vaccination positive serum antibodies or nasopharyngeal swabs. Z test and chi-square were used for statistical analysis. The overall number of paediatric diagnosis of CD did not differ between the two years pre-pandemic and pandemic periods (177 and 172 cases) in the three Italian participating centres. Clinical presentation of CD was also similar throughout the study periods. SARS-CoV-2 infection has been documented in 10.6% of children but only in 5.8% of these occurred before CD diagnosis. Different to what reported for other autoimmune diseases, the incidence and presenting symptoms of CD in our paediatric population did not change during the COVID-19 pandemic compared to the previous 2 years.

Synthetic Colors in Food: A Warning for Children’s Health

This study addressed the harmful effects of artificial colors in pediatric populations, including children diagnosed with Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), as well as those without behavioral disorders. There is a consensus that synthetic food colorings have several impacts on consumers, especially pediatrics, due to their influence on sensory appeal, which can encourage preference for certain foods. The results revealed that these color additives are directly linked to a series of health problems, with a greater impact on children, including a predisposition to pathological conditions such as carcinogenic, allergenic, mutagenic, cytotoxic, and clastogenic activities, as well as gastrointestinal and respiratory problems, in addition to behavioral changes in children with and without diagnosed disorders. The harms of synthetic dyes in children with or without comorbidities are worrying and require a careful and proactive approach from parents, caregivers and public authorities.

Single-level laminoplasty approach to selective dorsal rhizotomy with conus localization by rapid spine MRI.

While selective dorsal rhizotomy (SDR) was originally described as a multilevel approach, single-level approaches are now popularized. Conus localization is beneficial for operative planning in single-level selective dorsal rhizotomy. Our approach to SDR involvesminimal exposure for asingle-levellaminoplasty, preserving oneattached interspinous ligament. Pre-operative conus localization is required for this tailored approach to determine the laminoplasty level and dictate rostral or caudal division of the superior spinus ligament. While rapid MRI sequences have been popularized for pediatric cranial imaging, its utility for spinal imagining is less well-described, and specific application for conus localization has not been reported. Illustrate that rapid MRI without sedation is sufficient to identify conus level for tailored single-level laminoplasty SDR. Patients undergoing SDR from 2014 to 2022 at one institution were reviewed for type of pre-operative MRI (rapid vs full), conus level, procedural time for MRI, and radiology report. The typical rapid MRI has four sequences utilizing single-shot technique (scout, sagittal T2, axial T2, and axial T1) that typically take less than 1min each of acquisition time, with non-single-shot sequences added periodically in cooperative patients. To include time for patient positioning, pre-scan shimming, procedural incidentals, and other patient-specific variations, MRI procedure length was recorded as documented in the electronic medical record. N = 100 patients had documentation of an MRI for pre-operative imaging. Seventy-nine of these had a rapid MRI, and 21 required a full MRI with anesthesia for their treatment plan. Mean total procedure time for rapid MRI was 21.5min (median 17). Mean procedure time for MRI under general anesthesia was 91.2min (median 94). Of patients with rapid MRI imaging, 2/79 had an ambiguous conus level (1 from motion artifact, 1 from spinal hardware) vs 1/21 with a full MRI under anesthesia (due to spinal hardware). Rapid spinal MRI without sedation can be used for conus localization in a pediatric population. This may be routinely used as pre-operative imaging for a single-level approach to selective dorsal rhizotomy, without sedation or intubation procedures.

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins

Pathogenic variants in LMNA have been associated with a wide spectrum of muscular conditions: the laminopathies. LMNA-related congenital muscular dystrophy is a laminopathy characterised by the early onset of symptoms and often leads to a fatal outcome at young ages. Children face a heightened risk of malignant arrhythmias. No established paediatric protocols for managing this condition are available. We review published cases and provide insights into disease progression in two twin sisters with LMNA-related muscular dystrophy. Our objective is to propose a cardiac surveillance and management plan tailored specifically for paediatric patients. We present a family of five members, including two twin sisters with LMNA-related muscular dystrophy. A comprehensive neuromuscular and cardiac work-up was performed in all family members. Genetic analysis using massive sequencing technology was performed in both twins. Clinical assessment showed that only the twins showed diagnoses of LMNA-related muscular dystrophy. Follow-up showed an early onset of symptoms and life-threatening arrhythmias, with differing disease progressions despite both twins passing away. Genetic analysis identified a de novo rare missense deleterious variant in the LMNA gene. Other additional rare variants were identified in genes associated with myasthenic syndrome. Early-onset neuromuscular symptoms could be related to a prognosis of worse life-threatening arrhythmias in LMNA related muscular dystrophy. Being a carrier of other rare variants may be a modifying factor in the progression of the phenotype, although further studies are needed. There is a pressing need for specific cardiac recommendations tailored to the paediatric population to mitigate the risk of malignant arrhythmias.