Cloacal exstrophy is the most severe form of the bladder exstrophy–epispadias complex and one of the rarest congenital anomalies encountered in pediatric surgery. The investigators used a prospectively maintained database of patients with the bladder exstrophy–epispadias complex to review the clinical characteristics, surgical management and early- to mid-term outcomes of the four consecutive neonates. They assessed renal function, vesicoureteral reflux, continence-related indicators, orthopedic outcomes, growth, postoperative complications and quality of life.

Clinical management began with neonatal stabilization and proceeded to staged abdominal reconstruction, with simultaneous or delayed pelvic osteotomy selected according to each child’s anatomical and clinical characteristics. Two patients underwent primary bladder closure with simultaneous pelvic osteotomy during the first week of life, while two received delayed staged reconstruction. The patients managed with early pelvic osteotomy showed trends toward better preservation of renal function, earlier reflux regression and more favorable orthopedic findings. Because the series included only four children and treatment was not assigned experimentally, these observations remain associations rather than evidence that early osteotomy caused the outcomes.

Continence-related results were mixed across the group. Three patients achieved daytime dry intervals, while one experienced limited nighttime dryness. One patient developed short bowel syndrome requiring prolonged parenteral nutrition and also experienced recurrent catheter-related sepsis and growth impairment. Follow-up measurements showed that children with a more stable clinical course had higher scores on the Pediatric Quality of Life Inventory, an instrument used to assess quality of life. The report did not establish that surgical treatment or continence outcomes alone produced those score differences.

The case series concludes that cloacal exstrophy management must extend beyond anatomical reconstruction to coordinate urinary function, orthopedic outcomes, nutrition, infection prevention, growth and quality-of-life assessment. It also identifies the need for larger multicenter studies using standardized long-term follow-up to evaluate the apparent advantages associated with early pelvic osteotomy. Until such evidence is available, the trends reported in these four patients should be interpreted cautiously rather than treated as proof of superior or definitive surgical management.

Subject of Research: A four-neonate retrospective case series of surgical management and early- to mid-term outcomes in cloacal exstrophy.

Article Title: Surgical management and early outcomes of cloacal exstrophy: a single-center experience

Article References: Ural, D. A., Cömert, H. S. Y., & Saruhan, H. (2026). Surgical management and early outcomes of cloacal exstrophy: a single-center experience. BMC Pediatrics. https://doi.org/10.1186/s12887-026-07517-8

Image Credits: AI Generated

DOI: 10.1186/s12887-026-07517-8

Keywords: cloacal exstrophy, pelvic osteotomy, bladder reconstruction, pediatric surgery, renal function, vesicoureteral reflux, continence outcomes, short bowel syndrome, case series, multidisciplinary care, Surgical, management

The review, led by Han Yao, Xuejiao Li, Zhao Na, Xin Yi, and Chenghao Zhanghuang, synthesizes literature from PubMed/MEDLINE and Google Scholar published between January 2019 and March 2026, prioritizing pediatric-specific reviews, systematic analyses, consensus papers, and key original studies. Its central message is deliberately nuanced: CEUS is not one technology with one evidence base, but a family of techniques whose maturity varies dramatically by indication. The authors propose a three-tier framework—mature, center-dependent, and emerging—designed as a pragmatic organizing tool rather than a formal evidence-grading system, and they are candid that the framework itself has not been validated.

Technically, intravenous pediatric CEUS typically uses sulfur hexafluoride microbubbles administered at weight-based doses, often around 0.03 mL/kg, followed by a saline flush and continuous low-mechanical-index imaging. The bubbles remain strictly intravascular, which means they do not cross into tissue or the interstitium, and they carry no nephrotoxic burden. Safety data in children are reassuring: a comprehensive pediatric safety review found a very low frequency of adverse events, most mild and self-limited. Because the examination is portable, repeatable, and frequently feasible without sedation, it is especially attractive when serial perfusion assessment is needed or when avoiding computed tomography is a priority.

The strongest evidence, according to the review, clusters around three applications. First is contrast-enhanced voiding urosonography (ceVUS), which detects and grades vesicoureteral reflux without radiation. A systematic review and meta-analysis reported excellent diagnostic performance relative to radiographic standards, and modern protocols can also assess the urethra in boys—addressing a historic criticism of ultrasound-based reflux imaging. A prospective series of 1,010 children receiving intravesical second-generation contrast reported no serious adverse events, with minor events more likely attributable to catheterization than to the agent itself.

Perhaps the most intriguing finding in the ceVUS literature is the detection of intrarenal reflux—urine flowing backward into the kidney parenchyma itself. The review argues this is more than a technical curiosity: identifying intrarenal reflux may flag a subgroup of children at elevated risk of renal parenchymal injury, adding risk-stratification information beyond a simple present-or-absent reflux classification. For children with recurrent febrile urinary tract infections or suspected reflux nephropathy, this could reshape follow-up strategies that previously depended on voiding cystourethrograms, which require radiation and catheterization.

The second mature application is focal liver lesion characterization. Dynamic arterial, portal venous, and late-phase enhancement patterns help distinguish focal nodular hyperplasia, hemangioma, hepatoblastoma, and other lesions. A pilot pediatric criterion developed by Wang and colleagues improved differentiation of benign from malignant lesions, particularly hepatoblastoma versus hemangioma. CEUS has also proven useful for surveilling liver lesions in childhood cancer survivors, where serial follow-up without repeated CT is a meaningful advantage. Interpretation, the authors stress, must always be integrated with age, alpha-fetoprotein levels, oncologic history, and underlying liver disease.

Third is targeted CEUS for hemodynamically stable blunt abdominal trauma. In children with isolated low- to moderate-energy abdominal trauma, CEUS can detect and monitor solid-organ injury—lacerations, infarcts, and hematomas appear as nonenhancing regions within otherwise enhancing parenchyma—while avoiding additional radiation. The review is careful to delineate boundaries: CEUS does not replace whole-body trauma CT and cannot exclude retroperitoneal, thoracic, or osseous injuries. Its defensible role is targeted evaluation and follow-up in stable children when repeated CT is undesirable.

Beyond these three pillars, the picture becomes murkier. Renal, adrenal, splenic, pancreatic, and gallbladder applications are expanding but remain operator-dependent and less standardized. Bowel perfusion imaging shows promise in inflammatory bowel disease, particularly Crohn disease, where qualitative enhancement patterns and quantitative contrast kinetics may support treatment monitoring. But applications in necrotizing enterocolitis, appendicitis, neonatal bowel disorders, and intensive care remain emerging rather than routine. Hydrosonographic gastrointestinal techniques—such as hydrocolonic sonography for Hirschsprung disease, which showed high sensitivity and specificity in a prospective study—are promising but should not be conflated with intravenous CEUS, since they differ in route, preparation, and protocol.

Implementation barriers are substantial and often underestimated. Regulatory approval varies by jurisdiction: in the United States, FDA labeling for Lumason includes selected pediatric intravenous and intravesical applications, while European labeling for SonoVue has historically been more indication-specific, with pediatric approval particularly established for urinary tract assessment. Many other pediatric applications remain off label. Reimbursement is inconsistent, technology availability varies—high-quality CEUS requires contrast-specific software, reliable agent supply, cine-loop storage, and trained personnel—and cost-effectiveness data in pediatrics remain limited, though a single-center retrospective analysis suggested CEUS may reduce subsequent CT and MRI use.

The review’s actionable recommendations are concrete: develop indication-specific protocols for dosing, presets, and reporting; maintain emergency preparedness and contrast safety documentation; train radiologists, sonographers, nurses, and referring clinicians together; define pathways collaboratively with surgery, emergency medicine, oncology, nephrology, urology, and intensive care; use structured reporting language that states both findings and limitations; document local reimbursement and technology requirements before broad rollout; and audit diagnostic yield, adverse events, CT reduction, and downstream decisions. The goal, the authors conclude, is not to replace CT, MRI, or conventional ultrasound indiscriminately, but to position CEUS where its unique combination of real-time perfusion imaging, repeatability, bedside feasibility, and radiation avoidance delivers the greatest value for children.

Subject of Research: Evidence maturity and workflow integration of contrast-enhanced ultrasound in pediatric imaging

Article Title: Pediatric contrast-enhanced ultrasound in clinical practice: evidence maturity and workflow integration

Article References: Yao, H., Li, X., Na, Z., Yi, X., & Zhanghuang, C. (2026). Pediatric contrast-enhanced ultrasound in clinical practice: evidence maturity and workflow integration. Frontiers in Radiology, 6, Article 1905765. https://doi.org/10.3389/fradi.2026.1905765

Image Credits: AI Generated

DOI: 10.3389/fradi.2026.1905765

Keywords: contrast-enhanced ultrasound, pediatric imaging, ceVUS, vesicoureteral reflux, microbubbles, radiation-free imaging, blunt abdominal trauma, focal liver lesions, inflammatory bowel disease, workflow integration, evidence maturity, Frontiers in Radiology

Smith-Magenis syndrome affects roughly one in 15,000 to 25,000 births and is caused in most cases by a heterozygous deletion of chromosome band 17p11.2 that includes RAI1, a gene whose dosage is critical for normal brain development. A smaller fraction of patients instead carry a point mutation within RAI1 itself. The classic phenotype, which includes self-hugging, sleep disruption driven by an inverted melatonin rhythm, self-injurious behavior, and intellectual disability, typically crystallizes only after the first year or two of life. In an infant, before the behavioral fingerprint emerges, the diagnosis is notoriously easy to miss, and the syndrome can hide behind a scatter of unconnected problems.

That is precisely what happened here. The boy had been born by cesarean section at 35 weeks and five days, weighed 2,700 grams, and scored a perfect 10 on his Apgar assessments, giving no clue of what was coming. Yet his newborn heel-prick screen came back suspicious: thyroid-stimulating hormone was elevated at 8.58 micro-international units per milliliter while free thyroxine was low at 5.71 picomoles per liter, a biochemical signature of congenital hypothyroidism. Levothyroxine was started promptly, a decision that would later prove critical, because untreated thyroid deficiency in infancy compounds the neurodevelopmental damage caused by an underlying genetic disorder.

In February 2025, at around seven months of age, the boy was hospitalized elsewhere with a urinary tract infection complicated by sepsis. The numbers were alarming: a white blood cell count of 21.46 billion per liter, C-reactive protein of 120.6 milligrams per liter, procalcitonin of 10.2 nanograms per milliliter, and elevated lactate. Imaging revealed bilateral hydronephrosis with dilated ureters, meaning both kidneys were swollen with backed-up urine. He recovered after treatment with meropenem and piperacillin/tazobactam, but the family interrupted his levothyroxine in early April, setting the stage for the thyroid dysfunction to resurface at his next admission.

When he returned to Wuxi in May 2025 with fever, chills, and pyuria, the clinical team assembled a comprehensive picture. Physical examination showed a square face, a mildly depressed nasal bridge, left strabismus, eversion of the upper lip, abnormally short fingers on both hands, generalized low muscle tone, early closure of the anterior fontanel, a short penis, and phimosis. He could not yet sit steadily or crawl, and his language and fine motor skills lagged behind. Urinary injury markers were striking: alpha1-microglobulin at 96.80 milligrams per liter against a reference ceiling of 12.5, microalbumin at 70.70 milligrams per liter, and immunoglobulin G at 24.40 milligrams per liter, all pointing to kidney tubular and glomerular stress.

The urologic workup delivered the headline finding. Voiding cystourethrography, in which contrast dye is instilled into the bladder and tracked under X-ray while the child voids, demonstrated bilateral grade IV vesicoureteral reflux, the second-highest severity on a five-point scale, meaning urine was surging backwards from the bladder up dilated ureters into the renal pelvis on both sides. Static DMSA scintigraphy revealed focal cortical defects in the upper and lower poles of the right kidney, a sign of scarring or impaired perfusion. Dynamic DTPA scintigraphy quantified the damage: effective renal plasma flow measured 180.33 milliliters per minute in the left kidney and 133.77 milliliters per minute in the right, a split function of 57.4 percent versus 42.6 percent that documented early, asymmetric right renal compromise.

To explain the syndromic pattern, the team turned to trio whole-exome sequencing with copy-number-variant analysis, comparing the child’s genome against both parents’. The test found the smoking gun: a heterozygous deletion spanning positions 16,692,403 to 20,321,263 on chromosome 17, roughly 3.63 megabases, encompassing RAI1 and the Smith-Magenis critical region, present in the child but in neither parent. Under ACMG/AMP and ACMG/ClinGen classification standards the deletion was deemed pathogenic, formally establishing the diagnosis. The sequencing also surfaced a maternally inherited heterozygous DUOX2 variant, c.2635G>A (p.Glu879Lys), classified as likely pathogenic. DUOX2 encodes an enzyme essential for thyroid hormone synthesis, so the variant is an intriguing candidate for the boy’s hypothyroidism, but the authors are careful: without functional validation, and with no evidence of overt thyroid disease in the mother, its contribution remains unproven, and a clinically silent carrier state cannot be excluded. Two additional heterozygous variants in CCBE1 and RAG2 were flagged as uncertain significance and do not explain the phenotype.

The genetics here carries a broader lesson about genotype-phenotype architecture. Genitourinary anomalies have been reported in approximately 15 to 35 percent of individuals with 17p11.2 deletions, including collecting-system duplication, renal agenesis or ectopia, and ureterovesical obstruction, yet they are essentially absent from comparable cohorts of patients with intragenic RAI1 point variants. A 2006 genotype-phenotype study of 31 patients found renal or urinary abnormalities in 15 percent of deletion carriers and in none of the 11 individuals carrying RAI1 mutations. The implication is that genes elsewhere in the deleted interval, not RAI1 alone, shape the structural anomalies, meaning Smith-Magenis syndrome caused by a large deletion is best understood as a contiguous-gene disorder with a wider clinical footprint. The closest prior comparator in the literature was an eight-year-old boy with bilateral grade IV reflux who ultimately required ureteroplasty on both sides; the present case extends that picture into infancy with quantitative renal scintigraphy.

Management proceeded along multiple tracks simultaneously. The acute infection responded to cefoperazone/sulbactam, followed by oral amoxicillin/clavulanate, and continuous antibiotic prophylaxis at 76 milligrams once daily at bedtime was initiated, a strategy supported by randomized trial evidence for infants with grade III to V reflux, including the 2014 RIVUR trial and a 2023 European study in infants. Levothyroxine was resumed, and thyroid function returned to normal. A planned phimosis surgery had to be postponed after the boy suffered an afebrile seizure during sleep, which was treated with oxygen, monitoring, and phenobarbital; video-electroencephalography later showed no definite abnormality. Mouse models have shown that loss of Rai1 enhances hippocampal excitability and epileptogenesis, providing biological context for seizure susceptibility, but the authors decline to diagnose epilepsy, instead describing brief ocular convergence episodes observed during follow-up as possible seizure-like events under continued evaluation.

By late August 2025, the trajectory was cautiously encouraging. Creatinine had fallen to 25.0 micromoles per liter, cystatin C to 1.39 milligrams per liter, and the estimated glomerular filtration rate stood at 103.66 milliliters per minute per 1.73 square meters, with a urine protein-to-creatinine ratio of 0.12 grams per gram and no recurrent infections. Thyroid indices normalized, and growth in height and weight was satisfactory, though gross-motor, fine-motor, and language delays persisted, with a Gesell developmental quotient of 72 recorded at 9.2 months. The case’s principal message extends beyond one child: when an infant presents with developmental delay and hypotonia alongside dysmorphic features, skeletal findings, genitourinary anomalies, and endocrine dysfunction, clinicians should think syndromically and order genomic testing capable of detecting copy-number variants, because microdeletions can slip past both routine karyotyping and exome workflows restricted to single-nucleotide changes. Catching Smith-Magenis syndrome early does not change the deletion, but it transforms care, replacing episodic firefighting with coordinated renal protection, thyroid replacement, neurologic surveillance, developmental rehabilitation, and informed genetic counseling for the family.

Subject of Research: Early infantile presentation of Smith-Magenis syndrome with bilateral high-grade vesicoureteral reflux, hypothyroidism, and seizure

Article Title: Case Report: Smith-Magenis syndrome with bilateral high-grade vesicoureteral reflux, hypothyroidism, and seizure in infancy

Article References: Cheng, Y., Liu, X., Yang, L., & Xu, J. (2026). Case Report: Smith-Magenis syndrome with bilateral high-grade vesicoureteral reflux, hypothyroidism, and seizure in infancy. Frontiers in Pediatrics, 14, Article 1906694. https://doi.org/10.3389/fped.2026.1906694

Image Credits: AI Generated

DOI: 10.3389/fped.2026.1906694

Keywords: Smith-Magenis syndrome, RAI1, 17p11.2 deletion, vesicoureteral reflux, congenital hypothyroidism, DUOX2, whole-exome sequencing, copy-number variant, pediatric nephrology, seizure, developmental delay, case report

The exchange centers on a Matters Arising letter authored by Tjaš Žvar, Peter Slak, and Domen Plut, radiologists affiliated with both the Department of Radiology at Ljubljana University Medical Centre and the Faculty of Medicine at the University of Ljubljana. Their reply, published on 8 September 2026, responds to a commentary by Surve and Shitole concerning the optimization of imaging strategies after a first pediatric urinary tract infection. The tone of the reply is notably collegial. The Slovenian team thanks their colleagues for their insightful comments and frames the critique as a contribution that advances the discussion, but beneath the courteous surface lies a substantive disagreement about what the evidence currently supports and where pediatric imaging practice should go next.

At the heart of the discussion is a category of conditions known as congenital anomalies of the kidney and urinary tract, abbreviated CAKUT. These anomalies, which range from structural malformations of the kidney to obstructions and abnormal reflux of urine from the bladder back up the ureters, are among the most common abnormalities detected in children, and clinically significant forms can predispose a child to recurrent infections, hypertension, and progressive renal scarring. The clinical stakes are real. The goal of imaging after a first infection is to identify the subset of children whose anatomy puts them at risk of future kidney damage, so that surveillance, prophylaxis, or surgical correction can be considered before irreversible harm occurs.

The problem, as the Ljubljana authors acknowledge candidly, is that the current approach to identifying children with clinically significant CAKUT is not ideal. Routine ultrasonography after a first urinary tract infection has a low diagnostic yield, meaning that the vast majority of scans performed reveal nothing that changes management. This inefficiency carries costs that extend beyond the price of the examination itself. Every ultrasound appointment represents a burden on families, an addition to already stretched radiology departments, and, in some health systems, a delay that pushes other patients further down the waiting list. It was precisely this inefficiency, the authors write, that served as one of the principal motivations for their original study.

Crucially, the Slovenian team is careful to clarify the intent behind their work. Their aim, they explain, was not simply to reduce imaging, but to explore whether it could be more selectively targeted while maintaining patient safety. This distinction matters. Proposals to scale back imaging after a first urinary tract infection have sometimes been met with concern that children with hidden, clinically significant anomalies would be missed, with potentially serious consequences for their kidneys. By emphasizing that safety was a guiding constraint rather than an afterthought, the authors position their work as an attempt at refinement rather than retrenchment. They believe their findings point in the right direction, though they are equally forthright that further optimization is needed, because even within the higher-risk groups their study proposed, the diagnostic yield remains low.

This admission is one of the most scientifically interesting elements of the reply. It reflects a mature understanding of the limits of risk stratification in this field. The traditional predictors used to decide which children warrant imaging after a first infection have been relatively blunt instruments, principally age and sex, with atypical or recurrent infections triggering more aggressive workups. The authors concede that these variables alone do not capture the full spectrum of risk, and that even a risk-informed pathway built on them will leave a low yield within its targeted groups. In other words, refining the filter helps, but the filter itself may need to be rebuilt from richer material.

The reply to Surve and Shitole also engages with evidence from outside the immediate debate, drawing on a study by Doğan and colleagues that examined children diagnosed with vesicoureteral reflux, or VUR, only after they had already suffered recurrent infections. That study reported that children diagnosed with VUR following recurrent urinary tract infections had a higher prevalence of high-grade reflux and renal scarring. The implication is sobering: children whose significant urinary tract anatomy goes undetected after their first infection may return later with recurrent disease and already-established kidney damage. For the Ljubljana authors, this underscores the importance of identifying these children earlier, and it explains why they resist any interpretation of their work as a simple call for less imaging. The cost of missing a child with high-grade reflux is measured in permanent renal scarring, a price that no efficiency gain can justify.

So what would a better approach look like? The authors offer a concrete research agenda rather than a finished protocol. They argue that future studies should specifically examine children in whom clinically significant CAKUT or VUR was diagnosed only after the initial urinary tract infection, that is, the very patients whose anomalies were missed or not yet manifest at first presentation. By retrospectively analyzing these children’s initial clinical, microbiological, laboratory, and ultrasound findings together with their subsequent clinical course, researchers may uncover predictors that are not captured by age and sex alone. Such predictors could include specific patterns of organism virulence, inflammatory marker profiles, or subtle ultrasound findings that currently escape routine interpretation. The proposal effectively treats the missed cases as a natural experiment, a cohort whose histories hold the clues to earlier detection.

This methodology has a certain elegance, but it also illustrates the challenges inherent in the field. Retrospective analyses depend on the quality and completeness of the original records, and ultrasound findings in particular are operator-dependent and variably documented. Moreover, the number of children who experience clinically significant missed or delayed diagnoses after a first infection is small relative to the total population of children presenting with febrile urinary tract infections, which means that multi-center collaboration and careful pooling of data are likely to be essential. The authors’ call is therefore best understood as an invitation to the international pediatric radiology and urology communities to build the evidence base collaboratively, rather than as a claim that the answer is already at hand.

What emerges from this exchange is a picture of a specialty genuinely wrestling with its own practices in public. The original study, the critique by Surve and Shitole, and the reply from Žvar, Slak, and Plut together form a small but instructive case study in how scientific self-correction is supposed to work: findings are published, challenged, defended, and refined, with each participant acknowledging the limits of the current evidence. For clinicians, the practical message of the moment is one of continuity with caution. Risk-informed imaging pathways are, as the authors put it, a logical direction for future development, but the diagnostic yield remains low even within proposed higher-risk groups, and the consequences of delayed diagnosis of vesicoureteral reflux and renal scarring are serious enough that no wholesale abandonment of post-infection imaging is currently warranted. For families, the takeaway is that the ultrasound after a child’s first urinary tract infection remains a decision grounded in an active, evolving scientific debate, one in which researchers on all sides share the same goal: finding the children who need help, as early as possible, while sparing everyone else an unnecessary test.

Subject of Research: Risk-informed ultrasound imaging after a first pediatric urinary tract infection to detect congenital anomalies of the kidney and urinary tract

Article Title: Reply to Surve K

Article References: Žvar, T., Slak, P., & Plut, D. (2026). Reply to Surve K. Pediatric Radiology. https://doi.org/10.1007/s00247-026-06776-y

Image Credits: AI Generated

DOI: 10.1007/s00247-026-06776-y

Keywords: pediatric radiology, urinary tract infection, CAKUT, vesicoureteral reflux, ultrasound, renal scarring, risk stratification, diagnostic yield, children, imaging guidelines, nephrology, urology