Journal of Indian Association of Pediatric Surgeons最新文献

Morel-Lavallée lesion, also called closed degloving injury, is a rare clinical entity in routine pediatric surgical practice. We present a case of an 11-year-old girl presenting with a left hip lesion, treated with compression bandage, and the clinical outcome was favorable.

Background: Intranodal hemangiomas are rare benign vascular tumors of the lymph nodes, often misdiagnosed as malignant lymphadenopathies due to their clinical and radiological features. This case report and systematic review aim to elucidate the epidemiology, clinical profile, and therapeutic interventions for intranodal hemangioma, enhancing diagnostic accuracy and management.

Methods: A systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Searches were conducted in PubMed, Scopus, Web of Science, and Google Scholar up to March 15, 2024, using keywords like "intranodal hemangioma," "primary intranodal hemangioma," "nodal hemangioma," "vascular tumor," and "lymph node hemangioma." Inclusion criteria included studies on clinical presentation, diagnostic strategies, and therapeutic interventions for intranodal hemangioma in patients of all ages. Excluded were reviews, opinion pieces, non-English studies, cases of hemangioendothelioma, sclerosing hemangioma, and animal studies. Key aspects analyzed included demographics, clinical presentation, management strategies, and histopathological findings.

Results: Our case involves a 3-year-old female with a submandibular mass, initially diagnosed with hemangioma. After no response to beta-blocker therapy and conflicting imaging results, surgical excision was performed. Histopathology confirmed intranodal hemangioma. From 233 records, 19 publications (36 patients, including our case) met the inclusion criteria. The review shows common clinical presentations as painless, slowly enlarging lymph nodes, primarily in the cervical and axillary regions. Diagnostic challenges often require imaging and biopsy to differentiate from malignancies.

Conclusion: Recognizing intranodal hemangiomas, particularly in childhood, is crucial to prevent misdiagnosis and inappropriate treatment. The rarity of these tumors in childhood and their clinical presentation similar to malignancies in older patients make diagnosis challenging without widespread awareness. Surgical excision remains the mainstay of both diagnosis and treatment, often leading to favorable outcomes.

Background: A discrepancy between the true and measured value of stretched penile length (SPL) may be a result of errors that can either be systematic or random. Hence, it becomes important to focus on the quality of measurements to prevent any iatrogenic harm to the patients.

Objective: The objective of this study was to assess the magnitude of intra- and interobserver variations in the measurement of SPL with the SPLINT technique.

Materials and methods: SPL was measured prospectively in a cohort of 449 boys aged 0-14 years including 68 infants (substratified into Group I: >4 years, Group II: 4-8 years, and Group III: >8 years) with the SPLINT technique by expert (E: E1 and E2) and trainee (T: T1 and T2) surgeons after completing a three-tiered training module. Intra- and interobserver variability was assessed through descriptive statistics, intraclass correlation (ICC), relative technical error of measurement (rTEM), and reliability or R (%).

Results: Intraobserver variability: the mean difference between the two readings (E1 and E2) is 0.08 cm (95% confidence interval [CI]: 0.073-0.087), ICC was 0.998 (95% CI: 0.997-0.998), and intraobserver variability ≤0.1 cm in 85% of the participants (n = 370 of 433). The rTEM and reliability (%) were 1.82% and 98.1% (Group I), 1.65% and 98.9% (Group II), and 1.09% and 99.7% (Group III), respectively. The intraobserver variability was observed to be inversely proportional to the age of the participants (correlation coefficient = -0.56). Interobserver variability was calculated separately for expert versus trainee and trainee versus trainee (T-vs-T) measurements. For expert versus expert, ICC, rTEM, and reliability (%) were 0.984, 2.4%, and 96.8% (Group 1), 0.992, 2.07%, and 98.3% (Group 2), and 0.997, 1.38%, and 99.05% (Group 3), respectively. A similar pattern of variability was observed for T-vs-T measurements. The reliability (%) of the SPL by experts is consistently more than that of trainees across all age groups; however, the difference ameliorates with the age of participant.

Conclusions: The study has validated the SPLINT technique by demonstrating a high level of intra- and interobserver reliability. The adequacy of the training modules for SPL measurements described in this study has also been established. Evidence that the SPL can be used as an objective marker of penile dimensions is herewith furnished.

Background: Fetus-in-fetu (FIF) is an exceedingly rare condition, characterized by a fetal-like or fetiform mass with a calcified vertebral axis surrounded by other organs or limbs. This systematic review was conducted to comprehensively analyze the clinicopathological attributes, management strategies, and prognosis of FIF to consolidate existing knowledge on FIF.

Methodology: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a comprehensive search was performed across various electronic databases, using the keywords "fetus-in-fetu," "fetus-ex-fetus," "homunculus," or "fetiform teratoma" to look for published articles until December 2023. Data extraction and analysis were carried out for cases meeting the defined criteria for FIF diagnosis, that is "presence of both/either the vertebral column and/or long bones of extremities" and "absence of immature elements."

Results: A total of 249 case reports/case series comprising 241 single FIF cases and 33 multiple FIF cases were included for analysis. The majority of single FIF cases presented within the 1^st year of life, with a slight male predominance. Retroperitoneal location was most common, and imaging modalities played a crucial role in preoperative diagnosis. Complete surgical removal of the mass with detailed histopathological examination is the cornerstone of treatment for FIF, with favorable outcomes in the majority of cases. Both mature and immature teratoma can rarely be found in association with FIF.

Conclusion: This comprehensive systematic review enhances understanding of FIF, emphasizing the importance of accurate diagnosis by diligent histopathological examination, appropriate management, and vigilant postoperative monitoring for favorable outcomes.

We report the case of a 4-year-old child with a rare solitary neurofibroma-schwannoma hybrid tumor in the brachial plexus, not associated with known syndromes. Surgical management through a transclavicular approach enabled complete tumor excision with favorable postoperative outcomes. Histopathology and immunohistochemistry confirmed the tumor's hybrid nature.

Objective: To identify the genetic markers of spina bifida through a systematic survey of the exome in an Indian cohort.

Materials and methods: Three consecutive patients (P1: 1 year, male; P2: 2.8 years, male; and P3: 10 years, female) with spina bifida (lumbosacral meningomyelocele) underwent whole-exome sequencing (libraries: SureSelect Human All Exon V8; sequencing: 2 * 150 bp paired-end run, 100×) with NovaSeq 6000. Data analysis was performed using SMART-One™ (secondary analysis) and SMARTer™ (tertiary analysis) for automated quality check, alignment (GRCh38/hg38), variant calling, annotation (ClinVar, OMIM, avsnp150, 1000 Genomes v5b, ExAC v0.3, gnomAD v4.0, and esp6500vi2all v0.0.25), v0.0.25), interpretation. The pathogenic and likely pathogenic (ClinVar/ InterVar), non-synonymous, exonic markers (read depth ≥ 5) were matched with the Familial Neural Tube Defects (Version 1.10) panel (FNTD panel).

Results: Pathogenic variants overlapping with the FNTD panel were MTRR, CC2D2A, and ZIC2 in P1 and P2, TGIF1 in P1 only, and none in P3. Novel pathogenic/likely pathogenic variants common to all three patients were PRUNE1, PKD1, PDZD2, and DAB2 in the homozygous state as well as in the heterozygous state, PLK1 and NLGN2. The possible role of such markers in etiopathogenesis was explored through a literatur search.

Conclusions: The genetic landscape of the spina bifida in an Indian cohort is diverse compared to that reported from other parts of the world. A comprehensive catalog of single-nucleotide variants in the etiopathogenesis of the spina bifida on a background of the Familial Neural Tube Defects Panel has been generated.

Abdominal lipoblastoma is a rare tumor composed of embryonic fat. Mesenteric involvement is rarer, with only five cases reported in infants. We report a case of a 10-month-old infant with a lipomatous tumor arising from the ileal mesentery. Primary resection was done, and histopathology was suggestive of a lipoblastoma. The child is well in follow-up with no evidence of recurrence.

Aim: The aim is to study the demographics and management of unusual airway foreign bodies (UAFBs) in children.

Materials and methods: A retrospective observational study (2000-2020) of children with UAFBs, who underwent bronchoscopic removal. The demographics, types of foreign bodies, clinical and radiological features, management, and outcomes were collated and analyzed. Common foreign bodies, such as nuts, seeds, and vegetable aspirations, were excluded.

Results: Among 531 children who had bronchoscopic retrieval of airway foreign bodies, 74 (59 males/15 females) had unusual foreign bodies. These included pen caps, whistles, plastic objects, pins, coal piece, stones, clay, pencil, gold ornament, and glass bangle. Thirty-one children presented within 1 day of aspiration, 37 within 1 month and 6 till 6 months. Thirty-nine were below 5 years, and the rest were between 5 and 15 years. Cough, respiratory distress, fever, choking, and noisy breathing were common presentations. Others are stridor, whistling, cyanosis, loss, and change of voice. Chest X-ray showed ipsilateral hyperinflation (23), haziness (21), radio-opaque foreign body (17) and was normal in 14. The left main bronchus, followed by the right main bronchus and trachea, were the sites of impaction. Four children required additional procedures (tracheotomy and thoracotomy). There was one mortality in the study cohort.

Conclusion: Aspiration of unusual foreign bodies is not uncommon in children. Most aspirations are witnessed and predominant in boys. The left bronchus is the common site of impaction, and X-ray clinches the diagnosis. Presentation is delayed, and bronchoscopic retrieval, though challenging, has favorable outcome.