A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children.

Congenital myasthenic syndrome (CMS) is an uncommon inherited neuromuscular junction disease. The clinical presentation of this disorder is diverse. Typically patients with this disorder present with early-onset swallowing difficulty and apnea in infancy, fluctuating ocular palsies and fatigable proximal muscle weakness during childhood, and late-onset form involving progressive weakness in adulthood. Difficulty in performing neurophysiology studies in children and the absence of a pathognomonic investigation marker increase the challenges in diagnosis of this disorder. The emergence of next-generation sequencing technology has circumvented these challenges somewhat, and has contributed to the discovery of novel mutations. We present here diagnostic odyssey of three CMS patients from two unrelated Kadazandusun kinships and their follow-up treatment. A rare homozygous mutation c.916G > C (p.Val306Leu) in CHAT gene was found in two siblings born of a consanguineous marriage. Third patient had compound heterozygous mutations c.406G > A (p.Val136Met) and c.916G > C (p.Val306Leu) in CHAT gene. We postulate that p.Val306Leu may be a founder mutation in the Kadazandusuns, an indigenous ethnic minority of Borneo Island.

Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients.

Sanjad-Sakati syndrome (SSS) (Online Mendelian Inheritance in Man 241410) is a rare autosomal recessive disorder also known as hypoparathyroidism-retardation-dysmorphism syndrome. It is characterized by congenital hypoparathyroidism, growth retardation, typical facial features, and variable developmental delay. SSS is caused due to mutations of the tubulin-specific chaperone E ( TBCE ) gene. In this article, we reported the first Libyan child of first parental consanguinity with SSS and whole exome sequencing results identified the homozygous missense variant c.155-166del and it encodes p.(Ser52-Gly55del) (chr1:235564867) located in the TBCE gene , chromosome 1q42.3. In addition, the patient was also diagnosed with congenital hypothyroidism and presented with acquired bilateral cataract in the first year of life. Most likely, all Arab patients with SSS syndrome have the same TBCE gene mutation.

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis.

Introduction: Congenital disorders of glycosylation (CDG) refer to monogenetic diseases characterized by defective glycosylation of proteins or lipids causing multi-organ disorders. Here, we investigate the clinical features and genetic variants of SSR4-CDG and conduct a preliminary investigation of its pathogenesis. Methods: We retrospectively report the clinical data of a male infant with early life respiratory distress, congenital diaphragmatic eventration, cosmetic deformities, and moderate growth retardation. Peripheral blood was collected from the case and parents, genomic DNA was extracted and whole-exome sequencing was performed. The mRNA expression of SSR4 gene was quantified by Real-time Quantitative PCR. RNA sequencing analysis was subsequently performed on the case and a healthy child. Results: Whole-exome sequencing of the case and his parents' genomic DNA identified a hemizygous c.80_96del in SSR4, combined with the case's clinical features, the diagnosis of CDG was finally considered. In this case, the expression of SSR4 was downregulated. The case were present with 1,078 genes downregulated and 536 genes upregulated. SSR4 gene expression was significantly downregulated in the case. Meanwhile, gene set enrichment analysis (GSEA) revealed that SSR4-CDG may affect hemostasis, coagulation, catabolism, erythrocyte development and homeostatic regulation, and muscle contraction and regulation, etc. Improvement of growth retardation in case after high calorie formula feeding and rehabilitation training. Conclusion: Our study expanded the SSR4-CDG variant spectrum and clinical phenotype and analyzed pathways potentially affected by SSR4-CDG, which may provide further insights into the function of SSR4 and help clinicians better understand this disorder.

Associations between oxygen saturation Index and oxygenation index in neonates with congenital diaphragmatic hernia.

Objective: To explore the relationship between Oxygenation Index (OI) and Oxygen Saturation Index (OSI) among infants with Congenital Diaphragmatic Hernia (CDH), both within the first 24 h after birth and in extended observations in those who survived until their surgical intervention. Methods: Seven- years retrospective review of CDH cases at a single Level III neonatal intensive care unit. The correlations of various combinations of OI-OSI pairs were assessed using the Spearman's rho Correlation Coefficient. Additionally, during the initial 24 h, the correlations between admission (first), best (lowest), highest, and mean OI and OSI values were determined. The predictive ability of the first 24 h oxygen and oxygen saturation indices for mortality and other adverse outcomes were assessed using the Area Under the Curve (AUC) analysis. Results: Thirty-seven infants with CDH were included in the analysis. A strong correlation was observed between all pairs of OI/OSI (2,289) (Spearman's rho = 0.843), matched pairs of Postductal OI/OSI (1,232 pairs) (Spearman's rho = 0.835) and the unmatched pairs of Postductal OI and Preductal OSI (1,057 pairs) (Spearman's rho = 0.852). Using the regression equations for all pairs, matched and unmatched OI/OSI pairs, we deduced that for clinically pertinent OI thresholds of 10, 15, 20 and 40, the corresponding OSI values were 5, 8, 11, and 23, respectively. Furthermore, in the first 24 h, strong correlations were evident between OI/OSI: at admission (Spearman's rho = 0.783), best OI/OSI (Spearman's rho = 0.848), and highest OI/OSI (Spearman's rho = 0.921). The most robust correlation was observed between the mean OI/OSI with a Spearman's rho of 0.928. First (AUC = 0.849), best (AUC = 0.927), highest (AUC = 0.942) and mean day 1 OI (AUC = 0.946) were all predictive of mortality. Similarly, first (AUC = 1.00), best (AUC = 0.989), highest (AUC = 1.00) and the mean OSI in day 1 (AUC = 0.978) were all predictive of mortality. All of the OIs and OSIs in day 1 except for the admission OSI (AUC = 0.683) were predictive of pulmonary hypertension. Additionally, all of OI and OSI indices in the first 24-hour except for the best day 1 OI (AUC = 0.674) were predictive of the need for rescue HFOV. Conclusion: There were a strong correlation between the OI and OSI in infants with CDH. Oxygenation indices and OSI in the first 24 h were predictive of mortality and other adverse outcomes in infants with CDH.

Congenital epulis of the newborn; A case report.

INTRODUCTION: Congenital epulis, also known as Neumann's tumor, is an uncommon benign tumor of the oral mucosa that occurs in newborns. It is a rare condition, with fewer than 250 reported cases worldwide. The exact cause or underlying mechanism of this tumor is still not well understood. CASE PRESENTATION: We present a three-day-old male neonate who presented with a swelling on the gingiva that had been present since birth. The infant did not encounter any difficulties with feeding or breathing. The patient had a single, round, pink swelling measuring 2 × 2 × 1 cm on the right maxillary alveolar ridge. The swelling was surgically removed under general anesthesia. Microscopic examination revealed large polygonal cells with abundant granular cytoplasm, centrally located nuclei indicating a diagnosis of congenital epulis. CLINICAL DISCUSSION: Clinical manifestation could vary from no symptoms to feeding difficulty and rarely airway obstruction. It usually tends to grow on anterior alveolar ridge of the newborns, more on the maxilla than on the mandible. Confirmation of the diagnosis is by histopathology, which commonly shows proliferation of polygonal round cells with eosinophilic granular cytoplasm and round central nucleus. Congenital epulis can be approached using different management techniques depending on the size, site of the tumor, and presenting symptoms of the newborns. CONCLUSION: Congenital epulis is rare, but it has to be considered as a differential diagnosis for gingival swelling among neonates.

Clinical and histopathological spectrum of congenital pulmonary airway malformations: A case series.

BACKGROUND: Congenital pulmonary airway malformations (CPAM) are a spectrum of cystic and non-cystic anomalies arising from abnormal airway development in utero, with an incidence of 1 in 25,000 to 35,000 births. CPAM can present prenatally or postnatally with respiratory distress, recurrent infections, or occasionally as an incidental finding. This case series aims to highlight the clinical, radiological, and histopathological characteristics of CPAM through three pediatric cases, which include types 1, 2, and 3 CPAM. CASE PRESENTATION: Case 1: A four-month-old male presented with cough, cold, and respiratory distress. Imaging revealed hypoattenuation and overinflation of the left upper lobe with mediastinal shift. Left upper lobectomy confirmed CPAM type 2. Case 2: A one-month-old female presented with recurrent respiratory distress and infections. Imaging showed a large cystic lesion in the right middle lobe. Right middle lobectomy confirmed CPAM type 3. Case 3: A two-month-old male presented with dyspnea. Imaging showed a large bullae in the right chest with mediastinal shift. Right upper lobectomy confirmed CPAM type 1. CLINICAL DISCUSSION: CPAM is a rare congenital lung malformation characterized by abnormal bronchial development and localized glandular overgrowth. Management involves surgical resection, with the timing of surgery dependent on symptomatology. Early identification and intervention are crucial for preventing complications such as pulmonary hypoplasia and recurrent infections. Histopathological examination post-resection is essential for accurate classification and management of CPAM. CONCLUSION: This case series provides valuable insights into the clinical, radiological, and histopathological features of CPAM, including the types encountered in each case. It underscores the importance of early diagnosis and timely surgical intervention, advocating for routine prenatal and postnatal screenings to effectively identify and manage CPAM.

Large Right Atrial Size on Cardiac MRI is Associated with Post-operative Right Ventricular Dysfunction After the Cone Operation for Ebstein Anomaly.

The cone operation has revolutionized care for patients with Ebstein anomaly; however, acute post-operative right ventricular dysfunction (RVD) is common in this patient population. A single-center, retrospective review of 28 patients with Ebstein anomaly who underwent cardiac MRI (CMR) prior to cone reconstruction of the tricuspid valve was conducted. Measurements of atrial and ventricular size/function were assessed. Post-operative RVD was defined as the presence of moderate or severe systolic dysfunction on discharge echo. A two-tail t test was employed to compare the two groups. The average age at operation was 21.4 years (range 1.6-57.8) and 14 (50%) had RVD at discharge. Patients with post-operative RVD had significantly larger pre-operative right atrial (RA) maximum volume (p = 0.016) and RA minimum volume (p = 0.030). Patients with RVD had smaller pre-operative left atrial (LA) minimum volume (p = 0.012). Larger pre-operative right ventricular (RV) end-systolic volume (p = 0.046), lower RV ejection fraction (0.029), and smaller left ventricular (LV) end-diastolic volume (p = 0.049) were significantly associated with post-operative RVD. Post-operative RVD was associated with longer milrinone duration (p = 0.009) and higher maximum milrinone dose (p = 0.005) but was not associated with intensive care or hospital length of stay (p = 0.19 and 0.67, respectively). Increased RA and RV dilation and decreased LA and LV volumes are associated with the development of post-operative RVD following cone operation for Ebstein anomaly. Post-operative RVD affects milrinone dose and duration but is not associated with increased length of stay.

Error traps in patients with congenital heart disease undergoing noncardiac surgery.

Patients with congenital heart disease are living longer due to improved medical and surgical care. Congenital heart disease encompasses a wide spectrum of defects with varying pathophysiology and unique anesthetic challenges. These patients often present for noncardiac surgery before or after surgical repair and are at increased risk for perioperative morbidity and mortality. Although there is no singular safe anesthetic technique, identifying potential error traps and tailoring perioperative management may help reduce morbidity and mortality. In this article, we discuss five error traps based on the collective experience of the authors. These error traps can occur when providing perioperative care to patients with congenital heart disease for noncardiac surgery and we present potential solutions to help avoid adverse outcomes.

The effects of khat (Catha edulis) use on the genitourinary system: A systematic review and meta-analysis.

The objective of the current study is to conduct a meta-analysis of the existing literature concerning the potential impact of khat on the reproductive systems. Five international databases, Embase, Medline/PubMed, Scopus, Web of Knowledge (ISI), and ProQuest, were searched from inception up to the end of January 2024. The Joanna Briggs Institute (JBI) Critical Appraisal Checklist was used for quality assessment of included studies. After several screening phases,10 articles were included in the final analysis. The pooled meta-analysis showed that women who use khat during pregnancy had a significantly higher chance of having low birth weight (LBW) (OR= 2.51, 95% CI: 1.61-3.95, p-value < 0.001) and congenital anomalies (OR= 3.17, 95% CI: 1.31-7.73, p-value = 0.011) compared to nonusers. The obtained results of the meta-analysis showed that the consumption of khat significantly reduces semen volume (standardized mean difference = -0.903, 95% CI: -1.801 to -0.007, p = 0.048). In conclusion, our study show that significant associations with LBW, congenital anomalies, and reduced semen volume underscores the necessity for additional research to delve deeper into the intricate complexities of how khat affects reproductive health in both women and men.

Review - Renal transplantation for congenital urological diseases.

INTRODUCTION: Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are structural disorders originating prenatally and present at birth. Affecting 4.2 to 1000 per 10,000 births globally, CAKUT includes conditions like posterior urethral valves, cloacal anomalies, and reflux nephropathy. These anomalies can lead to chronic kidney disease (CKD) or end-stage kidney disease (ESKD) in children, necessitating renal replacement therapy or transplantation. OBJECTIVES: This article aims to provide an updated perspective on pediatric kidney transplantation for children with CAKUT, emphasizing pre-transplant evaluation and management to optimize long-term outcomes. METHODS: A comprehensive urologic evaluation is essential for children with ESKD being considered for kidney transplantation. Key pre-transplant investigations include kidney/bladder ultrasound (US), voiding cystourethrogram (VCUG), uroflowmetry, and urodynamics (UDS)/video-urodynamics (VUDS). Non-operative interventions such as pharmacotherapy and clean intermittent catheterization (CIC) are also considered. Surgical interventions, like augmentation cystoplasty or continent catheterizable channels, are evaluated based on individual patient needs. RESULTS: Kidney/bladder US and VCUG provide essential anatomical information. UDS offers comprehensive functional data, identifying hostile bladders needing pre-transplant optimization. Non-surgical measures like anticholinergics and CIC improve bladder function, while surgical options enhance compliance and capacity. Concurrent interventions during transplantation are feasible but require careful consideration of risks and benefits. DISCUSSION: Children with CAKUT undergoing kidney transplantation exhibit comparable or better graft survival rates than those without CAKUT. However, those with lower urinary tract obstructions (LUTO) may have poorer long-term outcomes. UDS is crucial for evaluating bladder function pre-transplant, guiding the need for interventions. Long-term monitoring for urinary tract infections (UTIs) and bladder dysfunction is essential. CONCLUSION: Optimal outcomes in pediatric kidney transplantation for CAKUT patients require thorough pre-transplant evaluation and management, particularly for those with LUTO. Multidisciplinary approaches ensure careful monitoring and timely interventions, improving graft survival and quality of life for these patients.

Clinical presentation and surgical outcomes in patients with Shone's complex: a systematic review.

OBJECTIVE: Shone's complex comprises of a combination of congenital cardiac anomalies causing obstructions in the left ventricle's inflow and outflow tracts. This systematic review aims to evaluate the clinical features and surgical outcomes of Shone's complex. METHODS: An electronic literature search of PubMed and Scopus was performed to identify relevant studies related to the presentation, management, and outcomes of Shone's complex. Two reviewers independently performed selection. Data on study characteristics, participant demographics, interventions, outcomes, and follow-up durations were extracted and analyzed. RESULTS: A total of 691 papers were identified, with 18 studies included in the final analysis. The majority of the studies (n = 12) focused on the pediatric age group. The most common clinical presentations were coarctation of the aorta (n = 17) and mitral stenosis (n = 12). Surgical interventions often involved staged approaches, prioritizing outflow before inflow obstructions. Mitral valve repair was preferred over replacement due to better long-term outcomes (n = 8). Biventricular repair was recommended due to improved postoperative outcomes, but often needed reoperations. Reoperations were common, primarily due to recurrent coarctation (n = 10), subaortic stenosis (n = 8), and mitral valve dysfunction (n = 7). Pulmonary hypertension (n = 10) and arrhythmias (n = 11) were significant complications. Most patients were in modified Ross/NYHA functional class 1 on follow-up. Mortality rates ranged from 4 to 28%, with better outcomes associated with early and strategic surgical interventions. CONCLUSION: Early diagnosis and biventricular repair were associated with better outcomes while transplantation was often an eventuality. Standardized diagnostic criteria, long-term follow-up, and consensus guidelines are needed to improve the management of this congenital heart disease.

Pregnancy and Infant Outcomes After Prenatal Exposure to Golimumab in Denmark, Finland, and Sweden 2006-2019.

PURPOSE: To present the main findings of a post-authorization safety study assessing pregnancy and infant outcomes after prenatal golimumab exposure in a real-world setting. METHODS: This observational population-based cohort study included data from pregnancies ending in 2006-2018 (Finland) or 2019 (Denmark, Sweden). Infants born to women with rheumatic diseases or ulcerative colitis diagnoses were identified. Based on prescription fills from 90 days prior to pregnancy until delivery, infants were assigned to one of the four drug-exposure cohorts: golimumab, other anti-TNF biologics, other biologics, and nonbiologic systemic therapy, and the general population. Prevalence of adverse pregnancy outcomes, mortality, diagnoses of major congenital anomalies (MCA), and inpatient infections in the infants' first year of life were assessed. Odds ratios and 95% CIs were calculated for MCA and infection. RESULTS: Among 134 infants in the golimumab cohort, none were stillborn or died in the first year of life. MCA were diagnosed in 4.5% of the infants in the golimumab cohort, versus 6.8%, 10.9%, 5.5%, and 4.6% in the other anti-TNF biologics, other biologics, nonbiologic systemic therapy and general population cohorts, respectively. Inpatient infections were diagnosed in 11% of golimumab-exposed infants, compared with 9%-11% of infants in the other cohorts. Unadjusted and selected adjusted comparisons showed no association between prenatal golimumab exposure and MCA or infection compared with the other exposure cohorts or general population. CONCLUSIONS: The number of infants with prenatal golimumab exposure was low, but results are reassuringly consistent with the evidence available for other anti-TNF biologics. Continued monitoring is needed.

Lung-protective ventilation in the management of congenital diaphragmatic hernia.

Prioritizing lung-protective ventilation has produced a clear mortality benefit in neonates with congenital diaphragmatic hernia (CDH). While there is a paucity of CDH-specific evidence to support any particular approach to lung-protective ventilation, a growing body of data in adults is beginning to clarify the mechanisms behind ventilator-induced lung injury and inform safer management of mechanical ventilation in general. This review summarizes the adult data and attempts to relate the findings, conceptually, to the CDH population. Critical lessons from the adult studies are that much of the damage done during conventional mechanical ventilation affects normal lung tissue and that most of this damage occurs at the low-volume and high-volume extremes of the respiratory cycle. Consequently, it is important to prevent atelectasis by using sufficient positive end-expiratory pressure while also avoiding overdistention by scaling tidal volume to the amount of functional lung tissue rather than body weight. Paralysis early in acute respiratory distress syndrome improves outcomes, possibly because consistent respiratory mechanics facilitate avoidance of both atelectasis and overdistention-a mechanism that may also apply to the CDH population. Volume-targeted conventional modes may be advantageous in CDH, but determining optimal tidal volume is challenging. Both high-frequency oscillatory ventilation and high-frequency jet ventilation have been used successfully as 'rescue modes' to avoid extracorporeal membrane oxygenation, and a prospective trial comparing the two high-frequency modalities as the primary ventilation strategy for CDH is underway.

Factors associated with signs of congenital syphilis in newborns.

OBJECTIVE: To analyze risk factors (maternal, obstetric and demographic) associated with congenital syphilis and the clinical characteristics of the newborns. METHOD: A cross-sectional study carried out in ten public maternity hospitals in Fortaleza, Ceará, Brazil that included cases of live births reported with congenital syphilis in 2015. RESULTS: 469 cases were analyzed; 199 (42.4 %) showed some sign or symptom suggestive of congenital syphilis; of these, 65 (32.7 %) were preterm, 87 (43.7 %) had low birth weight, 116 (58.3 %) had jaundice that required phototherapy, 13 (6.5 %) had hepatomegaly, 10 (5 %) had skin lesions, eight (4.0 %) had splenomegaly and one (0.5 %) had limb pseudoparalysis. Records of other clinical changes were identified in 36 (7.7 %) children. Children whose mothers were not treated or who received a drug other than penicillin and those whose mothers had a VDRL titer ≥ 1:16 at birth were 3.7 and 3.2 times more likely to be born with signs of congenital syphilis (p < 0.001- 95 % CI 2.41-5.58; p < 0.001 - 95 % CI 2.41-5.58) respectively. CONCLUSIONS: The findings of this study draw attention to the importance of improving the quality of prenatal care and the development of studies aimed at finding alternative drugs for the treatment of syphilis in pregnant women and the prevention of congenital syphilis.

Beyond the otoscope: an imaging review of congenital cholesteatoma.

Congenital cholesteatoma (CC) is a non-neoplastic lesion of keratin debris lined by epithelium found in the temporal bone. It is the lesser-known sibling of the acquired cholesteatoma and may be classified as congenital middle ear cholesteatoma and congenital petrous bone cholesteatoma. The incidence is rising, probably owing to increased recognition and advances in imaging modalities. Cone beam CT provides detailed anatomical information, highlighting quadrant location, ossicular involvement, and mastoid extension. MRI aids in lesion characterization and detection of complications. The classification systems for congenital middle ear and petrous bone cholesteatoma are helpful in the preoperative workup and have a role in predicting postoperative recurrence rates. Management almost invariably involves surgical intervention aimed at preserving middle and inner ear function. Follow-up of CC is mainly based on MRI together with otoscopic examination. Non-echo planar diffusion-weighted imaging, especially, has proven essential for detecting residual disease. This review article emphasizes the significance of imaging in the timely diagnosis and management of CCs. CLINICAL RELEVANCE STATEMENT: This article underscores the crucial role of imaging for prompt detection, preoperative assessment, and postoperative follow-up of CCs, a condition with rising incidence associated with potentially severe complications. KEY POINTS: Timely diagnosis of CCs is imperative for avoiding complications. Imaging is key in detection, preoperative evaluation, and postoperative management. Cone Beam CT and non-echo planar DWI represent state-of-the-art imaging techniques.

Echocardiographic estimation of pulmonary arterial and right atrial pressures in children with congenital heart disease: a comprehensive prospective study and introduction of novel equations.

BACKGROUND: Pediatric pulmonary hypertension (PH) is characterized by a mean pulmonary arterial pressure exceeding 20 mmHg. There is limited research on the suitability of adult-based methods for estimating PH in pediatric populations. Using established formulas for adults, this study aimed to evaluate the correlation between echocardiographic estimates of systolic, diastolic, and mean pulmonary arterial pressures, and mean right atrial pressures in children with congenital heart disease (CHD). METHODS: A prospective study was conducted involving children with CHD undergoing cardiac catheterization without prior cardiac surgery. We used echocardiography to estimate pulmonary and right atrial pressures and compared these with invasively measured values. Four reliable regression equations were developed to estimate systolic, diastolic, and mean pulmonary arterial pressures, and mean right atrial pressures. Cutoff values were determined to predict the occurrence of PH. Linear regression, Bland-Altman analysis, and receiver operating characteristic curve analysis were performed to assess the accuracy of echocardiography and establish diagnostic thresholds for PH. RESULTS: The study involved 55 children (23 with normal pulmonary arterial pressure and 32 with PH) with acyanotic CHD aged 1 to 192 months. Four equations were developed to detect high pulmonary arterial pressures, with cutoff values of 32.9 for systolic pulmonary arterial pressure, 14.95 for diastolic pulmonary arterial pressure, and 20.7 for mean pulmonary arterial pressure. The results showed high sensitivity and moderate specificity but a tendency to underestimate systolic and mean pulmonary arterial pressures at higher pressures. CONCLUSIONS: The study provides valuable insights into the use of adult-based echocardiographic formulas for estimating PH in pediatric patients with acyanotic CHD.

Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy.

Neurodevelopmental disorders have been linked to numerous genes, particularly pathogenic variants in genes encoding postsynaptic scaffolding proteins, like SHANK3. This study aims to provide insights into the cardiovascular profile of patients with pathogenic SHANK3 variants, expanding beyond the well-established associations with neurodevelopmental disorders and epilepsy. We conducted a prospective study involving patients affected by neurodevelopmental disorders with pathogenic SHANK3 variants. Comprehensive cardiovascular assessments were performed and molecular genetic testing included chromosomal microarray followed by clinical exome sequencing. We identified five patients with de novo SHANK3 variants, all of whom exhibited cardiac involvement, including myocardial dysfunction, congenital heart disease (patent ductus arteriosus), and a case of postictal atrial fibrillation. Our findings emphasize an elevated risk of cardiovascular abnormalities in patients with SHANK3 pathogenic variants compared to prior reports. Despite their young age, these patients displayed significant cardiac abnormalities. The study highlights the necessity of integrating cardiac evaluation and ongoing cardiovascular monitoring into multidisciplinary care, facilitating early detection of heart failure and assessment of the risk of sudden unexpected death in epilepsy (SUDEP). Further research is needed to elucidate the underlying mechanisms of cardiac manifestations in SHANK3 mutation carriers.

Mature congenital intraventricular intracranial teratoma: A case report and literature review.

Background: Intracranial teratomas represent a rare subset of neoplasms characterized by tissues derived from multiple germ layers within the cranial cavity. These tumors, originating from primordial germ cells, exhibit diverse clinical presentations and histopathological features. While predominantly located along the midline axis, including the suprasellar cistern and pineal region, they can also manifest in less common areas such as ventricles and hypothalamic regions. Histopathologically, they are classified as mature, immature, or malignant based on the degree of tissue differentiation. Case Description: Male patient with prenatal care for congenital hydrocephalus born at 38 weeks gestation with a bulging fontanelle. Postnatal imaging revealed an intraventricular lesion, later diagnosed through magnetic resonance imaging as a mature teratoma invading the lateral ventricle and extending to the hypothalamus. Surgical resection achieved total macroscopic removal followed by successful postoperative ventriculoperitoneal shunting due to evolving hydrocephalus. Conclusion: Teratomas are uncommon tumors, and prognosis depends on tumor size and location, especially considering the rarity of mature teratomas. Complete surgical resection is paramount for treatment, leading to a better prognosis and quicker recovery. In cases where complete removal is challenging, adjuvant therapies and cerebrospinal fluid diversion may be required to enhance therapeutic outcomes and ensure successful resection.