Journal of Indian Association of Pediatric Surgeons最新文献

Solid pseudopapillary pancreatic neoplasm (SPEN), also known as Frantz's tumor, is an uncommon pancreatic tumor typically affecting young and adolescent females and characterized by low-grade malignancy. It is rare in men and children. This case report details the incidental diagnosis of a solid pseudoepithelial tumor within the pancreas of an early adolescent boy who presented with abdominal pain following blunt abdominal trauma. The mass was initially misinterpreted as a hematoma given the history of trauma. This case underscores the significance of precise diagnosis, noting the course of events and the prognosis of SPEN.

Aim: Patients with anorectal malformations (ARMs) are known to have a higher association with epididymo-orchitis (EO). Congenital pouch colon (CPC), a rare subtype of ARM, presents with several predisposing factors that are presumed to be linked with EO. This study aims to investigate the occurrence of EO in this specific subgroup of ARM patients to enhance the understanding of its etiology.

Materials and methods: An ambispective observational study was conducted by analyzing medical records of male patients with CPC. Out of 28 patients managed primarily at our center, 25 fulfilled the inclusion criteria. The mean age at follow-up was 3.36 ± 1.33 years. Type IV CPC was the most common, seen in 12 (45.8%) patients. Hydroureteronephrosis was detected in 13 patients at initial presentation via abdominal ultrasonography, and 7 (28%) patients had a history of urinary tract infection (UTI). Cystoscopic evaluation revealed an ascended verumontanum into the bladder neck with the colovesical fistula near the verumontanum in nine patients. Only one patient, who had recurrent UTIs since infancy and voiding difficulties, experienced two episodes of EO. This patient also had multiple associated genitourinary and spinal anomalies. None of the remaining patients developed EO.

Conclusion: Despite the anatomical abnormalities associated with CPC, only 1 out of the 25 patients developed EO. Early division of the pouch vesical fistula and minimal dissection around the prostatic urethra may significantly reduce the risk of EO in this population. However, further research involving larger patient cohorts is necessary to better understand the underlying mechanisms and validate these observations.

Objectives: With the increasing global prevalence of pediatric chronic pancreatitis (CP), the literature on its disease burden and clinical profile remains limited to low- and middle-income countries. Early diagnosis of CP is frequently missed, particularly in local primary health centers (PHCs), because of nonspecific symptoms. This leads to patients presenting at tertiary hospitals at advanced stages, necessitating hospitalization for complications.

Subjects and methods: We conducted a retrospective study spanning 8 years on pediatric patients diagnosed with CP with an aim to investigate the etiology, clinical presentation, and multidisciplinary management strategies of CP among pediatric patients at a tertiary care hospital in southern India.

Results: Forty-eight unique patients were diagnosed with CP. Twenty out of forty-eight children experienced multiple admissions, with an average of two readmissions per patient. Pain in the abdomen was the predominant presenting complaint. The most common etiology was idiopathic. Conservative management was employed in 27 patients. Fourteen patients underwent endoscopic intervention, with twelve requiring stenting and 2 requiring drainage procedures. Six patients required pancreatic surgery.

Conclusions: CP in children is a disease with a protracted course and significant disease burden. Pediatric patients should undergo evaluation for CP rather than receiving symptomatic management alone very early in the evaluation of pain in the abdomen at PHCs. Early diagnosis, close monitoring, and aggressive multidisciplinary intervention are imperative to mitigate the morbidity and mortality associated with this condition.

Background and aims: Urinary carbohydrate antigen 19-9 (CA 19-9) has emerged as a promising noninvasive biomarker in the diagnosis of ureteropelvic junction obstruction (UPJO) in children. However, whether bladder urine reliably reflects biomarker concentrations in the renal pelvis remains uncertain. The aims are to evaluate the diagnostic utility of urinary CA 19-9 levels in children with UPJO and determine if bladder urine levels reflect those from the renal pelvis.

Methodology: This prospective case-control study included 72 children from July 2023 to June 2024. The control group (n = 38) comprised asymptomatic children with normal ultrasound, while the UPJO group (n = 34) included children with unilateral UPJO requiring pyeloplasty. Urine samples were collected from the bladder in both the groups and from the renal pelvis during surgery in the UPJO group and analyzed for CA 19-9 concentration using enzyme-linked immunosorbent assay. Median values were compared using nonparametric tests.

Results: There was no significant difference in age/sex distribution between the groups. Median CA 19-9 levels (U/mL) were significantly higher in the UPJO group (pelvic: 274.14; bladder: 281.22) compared to controls (3.78, P = 0.001). There was no significant difference between bladder and pelvis CA 19-9 levels in the UPJO group (P = 0.134). A moderate positive correlation was observed between pelvic and bladder CA 19-9 levels (r = 0.6055).

Conclusions: CA 19-9 levels in bladder urine are significantly elevated in children with UPJO and closely correlate with renal pelvic levels. These findings support the use of bladder sampling as a noninvasive test in diagnosing and monitoring UPJO, potentially simplifying clinical evaluation.

Omental cysts are rare, particularly in children. They are often lymphatic in origin and seldom present as hydroceles. Due to nonspecific clinical signs, most are diagnosed incidentally during surgery. We report the rare case of a 6-month-old male with left scrotal swelling since birth. Intraoperatively, a multiloculated omental cyst was identified extending into the scrotum. The cyst was completely excised, and histopathology confirmed a benign omental cyst. This case highlights an unusual presentation of omental cysts and the importance of considering abdominal causes in pediatric scrotal swellings.

Background: Anorectal malformations (ARM) and hypospadias are common congenital anomalies that occasionally co-occur, suggesting shared developmental pathways. Despite their clinical significance, the genetic etiology of combined ARM-hypospadias remains poorly understood.

Objective: The objective of this study was to identify genetic variants underlying concurrent ARM and hypospadias using whole exome sequencing and elucidate the molecular mechanisms driving their co-occurrence.

Materials and methods: Six boys with concurrent ARM and hypospadias underwent whole exome sequencing. Variants were filtered using stringent bioinformatic criteria (Minor Allele Frequency (MAF) <0.05, Combined Annotation Dependent Depletion (CADD) >20) and analyzed for pathogenicity using multiple prediction tools. Gene enrichment analysis, protein-protein interaction networks, and tissue expression profiles were evaluated. All patients had normal 46, XY karyotypes.

Results: Five patients harbored a recurrent heterozygous missense variant in ESRRA (c.1162C>T; p.Leu388Phe), whereas the sixth patient carried a Hemizygous STARD8 variant (c.2950C>T; p.Leu984Phe). ESRRA encodes an orphan nuclear receptor regulating steroidogenesis, whereas STARD8 modulates Rho GTPase signaling and cytoskeletal dynamics. Pathway analysis revealed ESRRA enrichment in steroid hormone biosynthesis and oestrogen signaling, whereas STARD8 was enriched in epithelial morphogenesis and cell adhesion pathways. String analysis confirmed ESRRA's predicted transcriptional regulation of STARD8. Both genes showed peak expression during critical urogenital development windows (8-14 weeks).

Conclusion: This study suggests a potential ESRRA-STARD8 regulatory pathway contributing to the pathogenesis of concurrent ARM and hypospadias. The convergence of hormonal dysregulation (via ESRRA) and structural defects (via STARD8) provides a unified molecular mechanism for these complex malformations. These findings have immediate implications for genetic screening, counseling, and potentially personalized surgical management of affected children.

Congenital paraesophageal hernia is a rare condition in the pediatric population, with giant hiatal hernia (HH) being even more uncommon. We report a case of a 3-year-old male who presented with epigastric pain after meals, recurrent respiratory symptoms, early satiety, and a history of pneumonia. Imaging studies, including a chest X-ray, upper gastrointestinal (UGI) contrast study, and contrast-enhanced computed tomography thorax, confirmed a sliding HH. The laparoscopic evaluation revealed 80% of the stomach herniating into the thoracic cavity through lax esophageal hiatus contained in a sac. The patient underwent UGI endoscopy and laparoscopic reduction of contents, sac excision, diaphragmatic crural repair, and Thal's anterior fundoplication. Postoperative recovery was uneventful, with the patient remaining asymptomatic on follow-up. Congenital paraesophageal hernias are believed to arise from embryologic abnormalities and often present with atypical symptoms, such as respiratory distress, making early diagnosis challenging. The etiology can be confirmed only after ruling out all the acquired causes of HH. Surgical intervention is the preferred treatment, particularly in cases of giant HH, to prevent complications such as volvulus and obstruction. Adhering to key surgical principles - including complete hernia reduction, crural repair, and an appropriate antireflux procedure - ensures optimal outcomes. This case highlights the rarity of congenital giant HH in children and its unusual presentation with predominant respiratory symptoms. Laparoscopic repair, following established surgical principles, proved to be an effective and minimally invasive approach, leading to a successful outcome.

Direct inguinal hernia is a rare differential diagnosis of inguino-scrotal swelling in the pediatric age group. But due to increased use of laparoscopy, this rare finding has become more common than thought. There is only one repair technique, i.e., posterior wall reinforcement, described in the literature. We discuss and review available literature of two such cases at the extremes of the pediatric age group with direct inguinal hernia, successfully managed with different and unique methods of repair.

Elastic bands such as forgotten thread ties on limbs or as accidental hair tied around genitalia, are mostly found in India. These are uncommon presentations, commonly seen in children <6 years old. Due to a variable period of presentation, they lead to various complications such as infection, edema, gangrene, ulceration, amputation, and functional loss. The longer the band is left in situ, the greater is the damage caused by them. Early diagnosis and surgical management are of utmost importance to save the involved extremity/body part. Surgical treatment involves exploration, identification, and safe removal of the involved band along with reconstruction of damaged structures, if any. In most of the cases, a good functional outcome is seen. As they can mimic signs and symptoms of compartment syndrome or constricting circumferential scar with ulcers and sinuses, a high index of suspicion is required for their diagnosis and management.