VATER症候群

BACKGROUND: Spinal epidural abscess is a rare but potentially life-threatening infection of the central nervous system. VACTERL association is a rare congenital condition characterized by vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. CASE PRESENTATION: We report a 7-year-old Arab male with VACTERL association presenting with back pain, fever, and gait difficulty. Laboratory studies showed leukocytosis (27 × 10⁹/L) and anemia (Hb 9 g/dL). MRI revealed multiloculated cystic lesions with thick walls and mixed fluid-gas content extending from T4 to L5, forming an extensive epidural abscess with paraspinal extension and vertebral erosions. The patient was treated with intravenous vancomycin, metronidazole, and imipenem, followed by surgical drainage and local vancomycin irrigation. Clinical condition improved markedly, and he was discharged after two months in good health. CONCLUSION: This case highlights the diagnostic challenges of SEA in children with complex congenital anomalies and emphasizes the importance of early recognition and multidisciplinary management.

BACKGROUND: Surgical management of esophageal atresia/tracheoesophageal fistula (EA/TEF) in extremely low birth weight (ELBW) neonates remains challenging and controversial. This study systematically reviews surgical strategies and outcomes in this population. METHODS: Following PRISMA guidelines, Cochrane, Embase, MEDLINE, Scopus, and Web of Science (2004-2024) were searched in February 2025 for studies on surgical management of ELBW neonates with EA/TEF (PROSPERO CRD42025636228). Fatal chromosomal abnormalities were excluded. Demographics, comorbidities, surgical techniques, and complications were analyzed descriptively. Risk of bias was assessed. RESULTS: Eleven publications (five case reports and six case series) comprising 30 patients (Gross type B/C = 1/29) met the eligibility criteria. Mean gestational age was 28.1 (23-34) weeks, and mean birth weight was 760.4 (422-995) g. Twelve primary repairs (PR) and 18 delayed primary repairs (DPR) were performed, including staged repair (n=11), lower esophageal banding (n=4), and other techniques (n=3). Postoperatively, four anastomotic leaks were managed conservatively, six strictures and one recurrent TEF required endoscopic intervention, three fundoplications and two aortopexies were reported (follow-up: 1-198 months, n=19). Overall mortality was 30% (PR: 8.3%; DPR: 44.4%). Mortality was 60% among neonates with major congenital heart defects (CHD) and 40% among those with VACTERL association. EA/TEF-related complications contributed to 33.3% of deaths. CONCLUSIONS: Mortality in this cohort remains high, particularly with major CHD, and is largely unrelated to EA/TEF-specific complications. In selected cases, PR appears feasible as an alternative to DPR, although conclusions are limited by the small sample size and heterogeneous studies.

OBJECTIVES: Congenital anomalies of the kidney and urinary tract (CAKUT) result from embryonic developmental defects and are usually not isolated. We evaluate the functional status of the kidney with Tc-99m renal scintigraphy in CAKUT patients associated with a rare complex systemic syndrome/sequence. MATERIALS AND METHODS: We retrospectively screened 788 Tc-99m EC (ethylenedicysteine) and 187 Tc-99m DMSA (dimercaptosuccinic acid) renal scintigraphies performed between January 2022 and November 2024. Patients were selected based on the presence of congenital systemic syndrome and CAKUT. STATISTICAL ANALYSIS: The Kruskal-Wallis test was used to compare grading of functional impairment of kidneys across different systemic syndromes. The Mann-Whitney U-test was used to compare the functional impairment of the kidney for continuous variables. RESULTS: A total of 38 patients (23 males, 15 females, mean age: 6.7 ± 6.7, range 0.03-33 years) of congenital systemic syndrome with associated CAKUT were identified. The most common systemic syndrome was anorectal malformation in 15 patients (39.5%). A few patients had features of more than one syndrome. The most common CAKUT was an orthotopic or ectopic nonfunctioning kidney in 15 patients (39.5%). The Tc-99m renal scintigraphies showed abnormal findings in 31 patients and normal findings in 7 patients. The proportion of abnormal findings was 81.6% (95% confidence interval: 65.7-92.3%). The difference in proportion of abnormal findings of renal scintigraphy across different syndromes was not statistically significant (Fisher's exact test, p = 0.128). The Kruskal-Wallis H-test revealed significant differences in the grading of functional impairment of kidneys across different systemic syndromes, H(16) = 27.24, p = 0.039. The Mann-Whitney U-test revealed significant difference ( p = 0.007) in serum creatinine of normal Tc-99m scintigraphy (mean = 0.49, n = 7) and abnormal Tc-99m scintigraphy (mean =1.25, n = 31), U = 36.5, z = 2.71, r = 1.65. However, there was no significant difference ( p = 0.097) in the age of patients who showed normal and abnormal Tc-99m scintigraphies. CONCLUSIONS: A complex systemic syndrome may have occult CAKUT that remains silent initially but presents as a complicated case later. Thus, these patients need functional evaluation with Tc-99m EC and Tc-99m DMSA scintigraphies for early diagnosis of renal anomaly and timely management and follow-up, especially after surgical intervention, to avoid future complications.

Background: Esophageal atresia (EA) is a complex congenital anomaly frequently associated with additional malformations and genetic conditions. Despite advances in prenatal imaging and genomic technologies, establishing an etiologic diagnosis and performing accurate risk stratification remain challenging due to marked clinical and genetic heterogeneity. Methods: We conducted a retrospective cohort study of neonates diagnosed with EA and admitted to a level IIIc neonatal intensive care unit between 2005 and 2024. Prenatal findings, associated anomalies, genetic testing results, mortality, and neurodevelopmental outcomes beyond 12 months were analyzed. Results: A total of 105 neonates were included, of whom 10.5% were diagnosed prenatally. Isolated EA was identified in 55.2% of patients, whereas 44.8% had associated anomalies, most commonly congenital cardiac defects. Clinically relevant genetic findings were identified in 10.5% of the total cohort (23.4% of complex EA cases). These findings reflect a clinically selected subgroup and should not be interpreted as diagnostic yields applicable to unselected populations or as a comparison between testing modalities. Overall mortality was 11.4%. Lower birth weight showed the strongest association with mortality in univariable analyses; however, no independent predictors were inferred due to the limited number of events. All deceased patients had complex malformative conditions and/or extreme prematurity. Among children with follow-up beyond 12 months, 88.5% demonstrated age-appropriate neurodevelopment. Conclusions: EA is characterized by substantial etiologic and phenotypic heterogeneity. Prenatal detection remains challenging, although advances in fetal imaging may improve diagnostic accuracy. A phenotype-guided approach integrating clinical evaluation and genetic testing may support etiologic diagnosis, recurrence counseling, and follow-up planning in selected patients. However, because testing was indication-driven and evolved over time, the reported diagnostic yields should not be generalized to unselected EA populations or interpreted as comparative performance across testing modalities.