Characteristics of intestinal microbiota in preterm infants and the effects of probiotic supplementation on the microbiota.

Objective: In this study, we investigated the characteristics of the intestinal microbiota of preterm infants, and then analyzed the effects of probiotics supplementation on intestinal microbiota in preterm infants. Methods: This study enrolled 64 infants born between 26 and 32 weeks gestational age (GA) and 22 full-term infants. 34 premature infants received oral probiotic supplementation for 28 days. Stool samples were obtained on the first day (D1) and the 28th day (D28) after birth for each infant. Total bacterial DNA was extracted and sequenced using the Illumina MiSeq Sequencing System, specifically targeting the V3-V4 hyper-variable regions of the 16S rDNA gene. The sequencing results were then used to compare and analyze the composition and diversity index of the intestinal microbiota. Results: There was no significant difference in meconium bacterial colonization rate between premature and full-term infants after birth (p > 0.05). At D1, the relative abundance of Bifidobacterium, Bacteroides, and Lactobacillus in the stool of preterm infants was lower than that of full-term infants, and the relative abundance of Acinetobacter was higher than that of full-term infants. The Shannon index and Chao1 index of intestinal microbiota in preterm infants are lower than those in full-term infants (p < 0.05). Supplementation of probiotics can increase the relative abundance of Enterococcus and Enterobacter, and reduce the relative abundance of Escherichia and Clostridium in premature infants. The Chao1 index of intestinal microbiota decreased in preterm infants after probiotic supplementation (p < 0.05). Conclusion: The characteristics of intestinal microbiota in preterm infants differ from those in full-term infants. Probiotic supplementation can reduce the relative abundance of potential pathogenic bacteria and increase the abundance of beneficial microbiota in premature infants.

Case report: Metagenomics next-generation sequencing in the diagnosis of septic shock due to Fusobacterium necrophorum in a 6-year-old child.

Fusobacterium necrophorum (F. necrophorum) infection is rare in pediatrics. In addition, the detection time of F. necrophorum by blood culture is long, and the positive rate is low. Infection with F. necrophorum bacilli usually follows rapid disease progression, resulting in high mortality. In previous reports of F. necrophorum-related cases, the most dangerous moment of the disease occurred after the appearance of Lemierre's syndrome. We report an atypical case of a 6-year-old female patient who developed septic shock within 24 h of admission due to F. necrophorum infection in the absence of Lemierre's syndrome. F. necrophorum was identified in a blood sample by metagenomics next-generation sequencing (mNGS) but not by standard blood culture. The patient was finally cured and discharged after receiving timely and effective targeted anti-infection treatment. In the present case study, it was observed that the heightened virulence and invasiveness of F. necrophorum contribute significantly to its role as a primary pathogen in pediatric septic shock. This can precipitate hemodynamic instability and multiple organ failure, even in the absence of Lemierre's syndrome. The use of mNGS can deeply and rapidly identify infectious pathogens, guide the use of targeted antibiotics, and greatly improve the survival rate of patients.

Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review.

Bacille Calmette-Guérin (BCG) is a live strain of Mycobacterium bovis (M.bovis) for use as an attenuated vaccine to prevent tuberculosis (TB) infection, while it could also lead to an infection in immunodeficient patients. M.bovis could infect patients with immunodeficiency via BCG vaccination. Disseminated BCG disease (BCGosis) is extremely rare and has a high mortality rate. This article presents a case of a 3-month-old patient with disseminated BCG infection who was initially diagnosed with hemophagocytic syndrome (HPS) and eventually found to have X-linked severe combined immunodeficiency (X-SCID). M.bovis and its drug resistance genes were identified by metagenomics next-generation sequencing (mNGS) combined with targeted next-generation sequencing (tNGS) in blood and cerebrospinal fluid. Whole exome sequencing (WES) revealed a pathogenic variant in the common γ-chain gene (IL2RG), confirming X-SCID. Finally, antituberculosis therapy and umbilical cord blood transplantation were given to the patient. He was successfully cured of BCGosis, and his immune function was restored. The mNGS combined with the tNGS provided effective methods for diagnosing rare BCG infections in children. Their combined application significantly improved the sensitivity and specificity of the detection of M.bovis.

Analysis of risk factors for acute kidney injury in children with severe wasp stings.

BACKGROUND: Acute kidney injury (AKI) is common in children with sepsis, chronic kidney disease, poisoning or other conditions. Wasp stings are recognized as an important etiology. Several retrospective studies have investigated AKI after wasp stings in adults, but research on children remains limited. METHODS: The study included 48 children with multiple organ dysfunction syndrome after wasp stings. Demographic data, clinical manifestations, laboratory findings, management and clinical outcomes were collected, and analyzed to identify early indicators or risk factors for AKI. RESULTS: 20 children (41.7%) developed AKI, and 28 (58.3%) did not. Serum creatine levels elevated mostly within 24 h from stings in children with AKI (16/20, 80%). Compared with non-AKI group, AKI group exhibited more cases with cola-colored urine, jaundice, and had higher sting numbers/body surface area (BSA) and higher revised sequential organ failure assessment scores (rSOFA) as well as higher levels of C-reactive protein (CRP), alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TBIL), lactate dehydrogenase (LDH), troponin (cTnI), creatine kinase (CK), and longer prothrombin time (PT). Both univariable and multivariable logistic regression analysis identified cola-colored urine as a potential early risk factor for AKI. CONCLUSIONS: The AKI group exhibited higher sting numbers/BSA, higher levels of CRP, ALT, AST, TBIL, LDH, cTnI, and CK, as well as longer PT (p < 0.05). Our findings also suggest that cola-colored urine may serve as an early indicator or potential risk factor for AKI after wasp stings in children, which is very easy to identify for first aiders or pediatricians.

Novel implementation of cardiac magnetic resonance first-pass perfusion imaging for semi-quantitatively evaluating microvascular dysfunction in paediatric patients with Duchenne muscular dystrophy.

OBJECTIVES: The current study aimed to assess myocardial microcirculation dysfunction via cardiac magnetic resonance (CMR) first-pass perfusion imaging in children with Duchenne muscular dystrophy (DMD). METHODS: In total, 67 children with DMD and 15 controls who underwent contrast-enhanced CMR first-pass perfusion imaging were enrolled in this study. CMR first-pass perfusion and late gadolinium enhancement (LGE) sequences were acquired. Further, the global, regional, and coronary artery distribution area perfusion indexes (PI), upslope (%BL), maximum signal intensity (MaxSI), time to maximum signal intensity (TTM), and baseline SI were analysed. The perfusion parameters of the LGE positive (+), LGE negative (-), and control groups were compared. Pearson correlation analysis was performed to assess the association between myocardial microcirculation and conventional cardiac function and LGE parameters. RESULTS: The LGE+ group had a significantly lower global and apical-ventricular MaxSI than the control group (all P < .05). The left anterior descending arterial (LAD), left circumflex coronary arterial (LCX), and right coronary arterial (RCA) segments of the LGE+ group had a lower upslope and MaxSI than those of the control group (all P < .05). The LAD segments of the LGE- group had a lower MaxSI than those of the control group (41.10 ± 11.08 vs 46.36 ± 13.04; P < .001). The LCX segments of the LGE- group had a lower PI and upslope than those of the control group (11.05 ± 2.84 vs 12.46 ± 2.82; P = .001; 59.31 ± 26.76 vs 68.57 ± 29.99; P = .002). Based on the correlation analysis, the upslope, MaxSI, and TTM were correlated with conventional cardiac function and LGE extent. CONCLUSIONS: Paediatric patients with DMD may present with microvascular dysfunction. This condition may appear before LGE and may be correlated with coronary artery blood supply and LGE extent. ADVANCES IN KNOWLEDGE: First-pass perfusion parameters may reveal the status of myocardial microcirculation and reflect the degree of myocardial injury at an earlier time in DMD patients. Perfusion parameters should be analysed not only via global or base, middle, and apical segments but also according to coronary artery distribution area, which may detect myocardial microvascular dysfunction at an earlier stage, in DMD patients with LGE-.

Expert consensus on the diagnosis, treatment, and prevention of respiratory syncytial virus infections in children.

BACKGROUND: Respiratory syncytial virus (RSV) is the leading global cause of respiratory infections and is responsible for about 3 million hospitalizations and more than 100,000 deaths annually in children younger than 5 years, representing a major global healthcare burden. There is a great unmet need for new agents and universal strategies to prevent RSV infections in early life. A multidisciplinary consensus development group comprising experts in epidemiology, infectious diseases, respiratory medicine, and methodology aims to develop the current consensus to address clinical issues of RSV infections in children. DATA SOURCES: The evidence searches and reviews were conducted using electronic databases, including PubMed, Embase, Web of Science, and the Cochrane Library, using variations in terms for "respiratory syncytial virus", "RSV", "lower respiratory tract infection", "bronchiolitis", "acute", "viral pneumonia", "neonatal", "infant" "children", and "pediatric". RESULTS: Evidence-based recommendations regarding diagnosis, treatment, and prevention were proposed with a high degree of consensus. Although supportive care remains the cornerstone for the management of RSV infections, new monoclonal antibodies, vaccines, drug therapies, and viral surveillance techniques are being rolled out. CONCLUSIONS: This consensus, based on international and national scientific evidence, reinforces the current recommendations and integrates the recent advances for optimal care and prevention of RSV infections. Further improvements in the management of RSV infections will require generating the highest quality of evidence through rigorously designed studies that possess little bias and sufficient capacity to identify clinically meaningful end points.

Rediscover the predictive capacity of B-type natriuretic peptide applied to neonatal supraventricular tachycardia.

BACKGROUND: Supraventricular tachycardia (SVT) is one of the most common non-benign arrhythmias in neonates, potentially leading to cardiac decompensation. This study investigated the early risk factors of acute heart failure (AHF) secondary to SVT in neonates, and explored their value in guiding the selection of effective anti-arrhythmic treatment. METHODS: A total of 43 newborns diagnosed with and treated for SVT between January 2017 and December 2022 were analyzed. According to the presence of AHF after restoring sinus rhythm in newborns with SVT, they were divided into SVT with AHF group and SVT without AHF group. Clinical data and anti-arrhythmic therapies were analyzed. Risk factors of AHF secondary to SVT in neonates were determined using logistic regression. The cut-off value for predictors of AHF secondary to SVT and demanding of a second-line anti-arrhythmic treatment was determined through receiver operating characteristic (ROC) analysis. RESULTS: Time to initial control of tachycardia > 24 h, hyperkalemia, anemia, and plasma B-type natriuretic peptide (BNP) were identified as risk factors of AHF secondary to SVT in neonates. BNP exhibited AUC of 0.80 in predicting AHF, and BNP > 2460.5pg/ml (OR 2.28, 95% CI 1.27 ~ 45.39, P = 0.03) was an independent predictor, yielding sensitivity of 70.6% and specificity of 84.6%. Neonates with BNP > 2460.5pg/ml (37.5% versus 7.4%, P = 0.04) had a higher demand for a second line anti-arrhythmic treatment to terminate SVT, with sensitivity and specificity for BNP in predicting at 75.0%, 71.4%, respectively. CONCLUSIONS: BNP could be used to predict an incident of AHF secondary to SVT and a demand of second-line anti-arrhythmic treatment to promptly terminate SVT and prevent decompensation in neonates.

Epidemiology of asthma exacerbation in children before and after the COVID-19 pandemic: a retrospective study in Chengdu, China.

PURPOSE: To examine the numbers and characteristics of children affected by asthma exacerbation in Chengdu, China, before and after the COVID-19 pandemic to inform efforts to manage childhood asthma in the post epidemic era. METHODS: Data were retrospectively collected from children admitted for asthma exacerbation to Chengdu Women and Children's Central Hospital between January 2017 and December 2022. Rates of hospitalization, ages of the affected children, comorbidities and infections, and relationships between hospitalization and seasonal or environmental factors were examined before and after the epidemic. RESULTS: Fewer children were hospitalized for asthma exacerbation, yet more hospitalized children had severe exacerbation after the epidemic than before. Rates of hospitalization varied considerably with time of year, and the timing of peak hospitalizations differed before and after the epidemic. Only before the epidemic, rates of hospitalization for asthma exacerbation were positively correlated with humidity. Infants made up a smaller proportion of hospitalized children after the epidemic than before, with preschool children accounting for most hospitalizations after the epidemic. The proportion of children hospitalized for asthma exacerbation who also had pneumonia was significantly smaller after the epidemic than before. Conversely, the proportion of children hospitalized for asthma exacerbation who also had allergic diseases was significantly greater after the epidemic than before. CONCLUSION: The epidemiology of asthma exacerbation in children changed after the epidemic. Future efforts to manage the condition in the paediatric population should focus on severe asthma exacerbation, prevention and management of allergic diseases, and the influence of meteorological and environmental factors.

A cohort study to investigate the potential indicators for prenatal echocardiographic detection of suspected coarctation of the aorta.

Objectives: Suspected coarctation of the aorta (CoA) is a common fetal echocardiographic presentation. However, the prenatal findings did not indicate a satisfied accuracy in determining the truly CoA after birth, which made the prenatal diagnosis of CoA still as a critical challenge with high false positive rate. Thus, this research is aimed to distinguish the potential prenatal parameters influencing the fetal echocardiographic images and enhance the true positive diagnostic rate of CoA fetuses which require early clinical intervention in postnatal life. Methods: A retrospective study had been designed and fetuses with suspected with CoA had been included from Jan 2016 to Dec 2021 in our center. The fetal echocardiography and related clinical information had been collected. And the postnatal diagnosis had been reached by echocardiography or CTA. Then, all the parameters had been analyzed by univariate analysis, and a multivariate logistic regression analysis was further involved to determine the independent parameters influencing the accuracy of diagnosis CoA fetuses. Moreover, such results had been validated by nomogram analysis and ROC curve. Results: Among the included 44 liveborn infants who presented suspected CoA in fetal cardiac screening, 18 cases had been proved to be CoA postnatally (Group P). The true positive rate for this study was 40.9% (18/44). The abnormal atrial hemodynamic status (AAHs) and the gestational week of delivery (GWoD) were associated with the postnatal CoA confirmation among prenatal suspected fetuses. The ROC curve of predicting probability of the mode combined with two independent factors of absence of AAH and GWoD (AUC = 0.880, 95% CI 0.763-0.997) presented a satisfied efficacy in distinguishing postnatal positive CoA diagnosis. The nomogram plot had been be utilized in CoA prediction (model likelihood ratio test, p < 0.0001). Conclusions: AAH and GWoD had been identified as independent factors of predictive accuracy in detecting postnatal CoA among prenatal suspected fetuses. The prediction mode based on nomogram scores could be used to predict the risk of occurring CoA fetuses.

Metagenomic analysis reveals distinct changes in the gut microbiome of obese Chinese children.

BACKGROUND: The prevalence of obese children in China is increasing, which poses a great challenge to public health. Gut microbes play an important role in human gut health, and changes in gut status are closely related to obesity. However, how gut microbes contribute to obesity in children remains unclear. In our study, we performed shotgun metagenomic sequencing of feces from 23 obese children, 8 overweight children and 22 control children in Chengdu, Sichuan, China. RESULTS: We observed a distinct difference in the gut microbiome of obese children and that of controls. Compared with the controls, bacterial pathogen Campylobacter rectus was significantly more abundant in obese children. In addition, functional annotation of microbial genes revealed that there might be gut inflammation in obese children. The guts of overweight children might belong to the transition state between obese and control children due to a gradient in relative abundance of differentially abundant species. Finally, we compared the gut metagenomes of obese Chinese children and obese Mexican children and found that Trichuris trichiura was significantly more abundant in the guts of obese Mexican children. CONCLUSIONS: Our results contribute to understanding the changes in the species and function of intestinal microbes in obese Chinese children.

Clinical Characteristics and Immune Responses in Children with Primary Ciliary Dyskinesia during Pneumonia Episodes: A Case-Control Study.

OBJECTIVE: This study explored the clinical features and immune responses of children with primary ciliary dyskinesia (PCD) during pneumonia episodes. METHODS: The 61 children with PCD who were admitted to hospital because of pneumonia were retrospectively enrolled into this study between April 2017 and August 2022. A total of 61 children with pneumonia but without chronic diseases were enrolled as the control group. The clinical characteristics, levels of inflammatory indicators, pathogens, and imaging features of the lungs were compared between the two groups. RESULTS: The PCD group had higher levels of lymphocytes (42.80% versus 36.00%, p = 0.029) and eosinophils (2.40% versus 1.25%, p = 0.020), but lower neutrophil counts (3.99 versus 5.75 × 109/L, p = 0.011), percentages of neutrophils (46.39% versus 54.24%, p = 0.014), CRP (0.40 versus 4.20 mg/L, p < 0.001) and fibrinogen (257.50 versus 338.00 mg/dL, p = 0.010) levels. Children with PCD and children without chronic diseases were both most commonly infected with Mycoplasma pneumoniae (24.6% versus 51.9%). Children with PCD had significantly more common imaging features, including mucous plugging (p = 0.042), emphysema (p = 0.007), bronchiectasis (p < 0.001), mosaic attenuation (p = 0.012), interstitial inflammation (p = 0.015), and sinusitis (p < 0.001). CONCLUSION: PCD is linked to immune system impairment, which significantly contributes to our understanding of the pathophysiology of this entity.

Multicenter evaluation of the Acaruiter Respiratory Panel for diagnosis of respiratory tract infections in Chinese children.

IMPORTANCE: Compared to multiplex PCR assays that are available in the Chinese market, the Acaruiter Respiratory Panel (fluorescent PCR) covers a wider range of pathogens including eight viruses, five bacteria, Mycoplasma pneumoniae and Chlamydia pneumoniae, and has high accuracy and effectiveness in the detection of pathogens. This is the first study to evaluate the performance of the Acaruiter Respiratory Panel. This regent may be a promising assay for comprehensive testing for respiratory pathogens from nasopharyngeal swab specimens in Chinese children.

Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.

Oocyte maturation arrest, fertilization failure, and early embryonic arrest are important causes of female infertility, whereas the genetic events that contribute to these processes are largely unknown. Loss-of-function of PABPC1L in mice has been suggested to cause female infertility involved in the absence of mature oocytes or embryos in vivo or in vitro. However, the role of PABPC1L in human female reproduction remains largely elusive. In this study, we identified a homozygous missense mutation (c.536G>A, p.R179Q) and a compound heterozygous mutation (c.793C>T, p.R265W; c.1201C>T, p.Q401*) in PABPC1L in two unrelated infertile females characterized by recurrent oocyte maturation abnormalities and early embryonic arrest. These variants resulted in nonfunctional PABPC1L protein and were associated with impaired chromatin configuration and transcriptional silencing in GV oocytes. Moreover, the binding capacity of mutant PABPC1L to mRNAs related to oocyte maturation and early embryonic development was decreased significantly. Our findings revealed novel PABPC1L mutations causing oocyte maturation abnormalities and early embryonic arrest, confirming the essential role of PABPC1L in human female fertility.

A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.

We describe a fetus from a Chinese family whose parents were both healthy but showed multiple malformations, including clubfoot, camptodactyly, micrognathia, and cleft palate. Genomic DNA was extracted from the peripheral blood of the proband's parents and skeletal muscle tissue from the aborted fetus to determine the diagnosis and underlying cause. Whole-exome sequencing revealed that the fetus was heterozygous for a novel variant of uncertain significance in exon 56 (c.8576G>A; p.Trp2859*) of the Piezo-type mechanosensitive ion channel component 2 gene (PIEZO2) (NM_001378183.1). A diagnosis of Gordon syndrome (GS) was made from the presence of this variant and ultrasonic manifestation. Sanger sequencing of the proband's parents resulted in normal chromatograms, suggesting that this was either a de novo variant in the fetus or, less likely, the result of germline mosaicism in the proband's mother or father. This is the first description of GS caused by a PIEZO2 variant in which the fetus was the proband. A prenatal diagnosis of GS can be established by fetal ultrasound examination combined with genetic testing.

Advances in epigenetic modifications of autophagic process in pulmonary hypertension.

Pulmonary hypertension is characterized by pulmonary arterial remodeling that results in increased pulmonary vascular resistance, right ventricular failure, and premature death. It is a threat to public health globally. Autophagy, as a highly conserved self-digestion process, plays crucial roles with autophagy-related (ATG) proteins in various diseases. The components of autophagy in the cytoplasm have been studied for decades and multiple studies have provided evidence of the importance of autophagic dysfunction in pulmonary hypertension. The status of autophagy plays a dynamic suppressive or promotive role in different contexts and stages of pulmonary hypertension development. Although the components of autophagy have been well studied, the molecular basis for the epigenetic regulation of autophagy is less understood and has drawn increasing attention in recent years. Epigenetic mechanisms include histone modifications, chromatin modifications, DNA methylation, RNA alternative splicing, and non-coding RNAs, which control gene activity and the development of an organism. In this review, we summarize the current research progress on epigenetic modifications in the autophagic process, which have the potential to be crucial and powerful therapeutic targets against the autophagic process in pulmonary hypertension development.

Myeloid-derived suppressor cells and pulmonary hypertension.

Pulmonary hypertension (PH) is a chronic pulmonary vascular disorder characterized by an increase in pulmonary vascular resistance and pulmonary arterial pressure. The detailed molecular mechanisms remain unclear. In recent decades, increasing evidence shows that altered immune microenvironment, comprised of immune cells, mesenchymal cells, extra-cellular matrix and signaling molecules, might induce the development of PH. Myeloid-derived suppressor cells (MDSCs) have been proposed over 30 years, and the functional importance of MDSCs in the immune system is appreciated recently. MDSCs are a heterogeneous group of cells that expand during cancer, chronic inflammation and infection, which have a remarkable ability to suppress T-cell responses and may exacerbate the development of diseases. Thus, targeting MDSCs has become a novel strategy to overcome immune evasion, especially in tumor immunotherapy. Nowadays, severe PH is accepted as a cancer-like disease, and MDSCs are closely related to the development and prognosis of PH. Here, we review the relationship between MDSCs and PH with respect to immune cells, cytokines, chemokines and metabolism, hoping that the key therapeutic targets of MDSCs can be identified in the treatment of PH, especially in severe PH.

Third trimester as the susceptibility window for maternal PM2.5 exposure and preterm birth: A nationwide surveillance-based association study in China.

Maternal PM2.5 exposure has been identified as a potential risk factor for preterm birth, yet the inconsistent findings on the susceptible exposure windows may be partially due to the influence of gaseous pollutants. This study aims to examine the association between PM2.5 exposure and preterm birth during different susceptible exposure windows after adjusting for exposure to gaseous pollutants. We collected 2,294,188 records of singleton live births from 30 provinces of China from 2013 to 2019, and the gridded daily concentrations of air pollutants (including PM2.5, O3, NO2, SO2, and CO) were derived by using machine learning models for assessing individual exposure. We employed logistic regression to develop single-pollutant models (including PM2.5 only) and co-pollutant models (including PM2.5 and a gaseous pollutant) to estimate the odds ratio for preterm birth and its subtypes, with adjustment for maternal age, neonatal sex, parity, meteorological conditions, and other potential confounders. In the single-pollutant models, PM2.5 exposure in each trimester was significantly associated with preterm birth, and the third trimester exposure showed a stronger association with very preterm birth than that with moderate to late preterm birth. The co-pollutant models revealed that preterm birth might be significantly associated only with maternal exposure to PM2.5 in the third trimester, and not with exposure in the first or second trimester. The observed significant associations between preterm birth and maternal PM2.5 exposure in the first and second trimesters in single-pollutant models might primarily be influenced by exposure to gaseous pollutants. Our study provides evidence that the third trimester may be the susceptible window for maternal PM2.5 exposure and preterm birth. The association between PM2.5 exposure and preterm birth could be influenced by gaseous pollutants, which should be taken into consideration when evaluating the impact of PM2.5 exposure on maternal and fetal health.

Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant.

We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was admitted to our hospital after first presenting at the age of 3 months with abnormal facial features that had been noticed within 4 weeks of birth. Echocardiography performed at the age of 3 months showed only slightly accelerated blood flow in the right ventricular outflow tract. At the age of 5 months, echocardiography showed myocardial hypertrophy; this finding combined with the physical characteristics and other examination results led to the consideration of congenital lipodystrophy. Genetic testing at the age of 9 months confirmed type 2 congenital lipodystrophy caused by BSCL2 gene mutation, and dietary modification was initiated. Conventional echocardiography performed at the ages of 5, 8, and 14 months showed no significant changes and a normal ejection fraction. However, two-dimensional speckle-tracking performed between the ages of 5 and 8 months showed cardiac systolic abnormalities that tended to improve after treatment. This case highlights the value of echocardiography in detecting structural and early functional cardiac changes in infants with congenital lipodystrophy.