CLINICAL CORRELATION OF ASSOCIATED ANOMALIES IN DIFFERENT VARIANTS OF ANORECTAL MALFORMATION IN CHILDREN

Authors

  • N ZARQOON Department of Paediatric Surgery, Holy Family Hospital, Rawalpindi, Pakistan
  • MF GONDAL Department of Paediatric Surgery, Holy Family Hospital, Rawalpindi, Pakistan
  • Z AZAM Department of Paediatric Surgery, Holy Family Hospital, Rawalpindi, Pakistan
  • H FAROOQ Department of Paediatric Surgery, Holy Family Hospital, Rawalpindi, Pakistan
  • I NASEER Department of Forensic Sciences, University of Central Punjab, Lahore, Pakistan
  • MF NASEER Department of Physiotherapy, Intern Health Care Centre, Lahore, Pakistan,

DOI:

https://doi.org/10.54112/pjicm.v5i02.234

Keywords:

Meningitis, Computed Tomography, Lumbar Puncture, Emergency Department, Cerebrospinal Fluid

Abstract

Background: The routine use of contrast-enhanced computed tomography (CECT) prior to lumbar puncture (LP) in patients with suspected meningitis may delay definitive diagnosis and timely initiation of antimicrobial therapy. Evidence supporting the incremental diagnostic value of CECT over LP in emergency settings, particularly in low- and middle-income countries, remains limited. Objective: To compare the diagnostic significance of contrast-enhanced CT brain and lumbar puncture in adults presenting with suspected meningitis to the emergency department of a tertiary care hospital in Pakistan. Study Design: Prospective observational study. Settings: Department of Paediatric Surgery, Holy Family Hospital, Rawalpindi, Pakistan. Duration of Study: January 2024 to January 2025. Methods: Ninety consecutive adult patients presenting with clinical features suggestive of acute meningitis were enrolled. In accordance with institutional protocol, all patients underwent a contrast-enhanced CT of the brain prior to lumbar puncture. CT findings were evaluated for parenchymal abnormalities and radiological contraindications to LP. Cerebrospinal fluid (CSF) analysis served as the reference standard for confirming and classifying meningitis etiologically. Diagnostic performance indices of CECT were calculated against CSF findings. Post-stratification analysis assessed associations between CT abnormalities, presenting clinical features, and in-hospital outcomes. Statistical analysis was performed using SPSS version 26, with p < 0.05 considered statistically significant. Results: The mean age of participants was 34.8 ± 15.6 years, with a male predominance (56.7%). CSF analysis confirmed meningitis in 84.4% of cases. The predominant etiologies were bacterial (41.1%), viral (31.1%), and tuberculous meningitis (12.2%). CECT demonstrated abnormalities in 35.6% of patients and identified radiological contraindications to LP in 8.9%. Using CSF as the reference standard, CECT showed limited sensitivity (42.1%) and moderate specificity (83.3%) for meningitis-related abnormalities. CT abnormalities were significantly associated with altered level of consciousness, seizures, and papilledema (p < 0.05). Patients with abnormal CT findings experienced higher rates of intensive care unit admission, mechanical ventilation, neurological sequelae, and in-hospital mortality (all p < 0.05). Emergency department length of stay was significantly prolonged among patients undergoing CT prior to LP. Conclusion: Contrast-enhanced CT of the brain demonstrates limited sensitivity for confirming meningitis but remains valuable for identifying contraindications to lumbar puncture and stratifying patients at risk of severe outcomes. Lumbar puncture with CSF analysis remains the definitive diagnostic modality. Selective, guideline-directed use of pre-LP neuroimaging may reduce diagnostic delays and improve outcomes in resource-constrained emergency care settings.

References

Fourie N., Vos C., Roux C., & Goussard P Anorectal malformation associated with delayed presentation of right Bochdalek type diaphragmatic hernia. BMJ Case Reports 2022;15(7):e249980. https://doi.org/10.1136/bcr-2022-249980

Putte R., Rooij I., Marcelis C., Guo M., Brunner H., Addor M.et al.. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatric Research 2019;87(3):541-549. https://doi.org/10.1038/s41390-019-0561-y

Ahn J. and Choi H Accompanied anomalies in anal atresia or tracheo‐esophageal fistula: Comparison with or without VACTERL association. Birth Defects Research 2021;113(9):696-701. https://doi.org/10.1002/bdr2.1884

Veras L., Smith J., & Gosain A. Lack of disparities in screening for associated anomalies in children with anorectal malformations. Journal of Surgical Research 2018;231:10-14. https://doi.org/10.1016/j.jss.2018.05.008

Forero L., Henderson R., Galarreta C., Swee S., & Bird L. Expansion of the core features of VACTERL association to include genital anomalies. American Journal of Medical Genetics Part A 2024;194(9). https://doi.org/10.1002/ajmg.a.63587

Gomes A., Zapata L., Galarreta C., Henderson R., Hoyt E., Swee S., et al. Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance. American Journal of Medical Genetics Part A 2023;194(2):320-327. https://doi.org/10.1002/ajmg.a.63443

Putte R., Dworschak G., Brosens E., Reutter H., Marcelis C., Acuña‐Hidalgo R., et al A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in Pediatrics 2020;8. https://doi.org/10.3389/fped.2020.00310

Ritter J., Lisec K., Klinner M., Heinrich M., Schweinitz D., Kappler R.et al.. Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association. Children 2023;10(5):882. https://doi.org/10.3390/children10050882

Thiem C., Stegmann J., Hilger A., Waffenschmidt L., Bendixen C., Köllges R., et al. Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated anorectal malformation. Birth Defects Research 2022;114(10):478-486. https://doi.org/10.1002/bdr2.2008

Kolvenbach C., Ven A., Kause F., Shril S., Scala M., Connaughton D.et al.. Exome survey of individuals with VATER/VACTERL and renal phenotypes identifies phenocopies and novel candidate genes. American Journal of Medical Genetics Part A 2021;185(12):3784-3792. https://doi.org/10.1002/ajmg.a.62447

Kassa A. and Lilja H Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study. Plos One 2023;18(6):e0288061. https://doi.org/10.1371/journal.pone.0288061

Renwick A., Schraw J., Desrosiers T., Janitz A., Scheurer M., Canfield M., et al. Abstract 1998: A population-based assessment of cancer risk in children with recurrent multiple congenital anomalies. Cancer Research 2022;82(12_Supplement):1998-1998. https://doi.org/10.1158/1538-7445.am2022-1998

Gupta N. and Singh P A Novel Co-occurrence of VACTERL and Closed Neural Tube Defect. Journal of Fetal Medicine 2020;07(03):253-258. https://doi.org/10.1007/s40556-020-00267-2

Acar Z. and Tuğan B. Congenital superior oblique palsy in a patient with VACTERL association. Saudi Journal of Ophthalmology 2024;38(1):67-70. https://doi.org/10.4103/sjopt.sjopt_297_23

Kause F., Zhang R., Ludwig M., Schmiedeke E., Rißmann A., Thiele H.et al. HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Research 2019;111(10):591-597. https://doi.org/10.1002/bdr2.1493

. Pijpers A., Schattenkerk L., Straver B., Zwijnenburg P., Broers C., Heurn E.et al.. The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction—A Retrospective Cohort Study of 112 Patients. Children 2022;9(12):1814. https://doi.org/10.3390/children9121814

Minneci P., Kabre R., Mak G., Halleran D., Cooper J., Afrazi A.et al.. Can fecal continence be predicted in patients born with anorectal malformations?. Journal of Pediatric Surgery 2019;54(6):1159-1163. https://doi.org/10.1016/j.jpedsurg.2019.02.035

Wu S., Wang Y., Hou J., Die X., Zhang M., & Feng W Risk Factors of Urinary Tract Infection in Children with Anorectal Malformations. 2022. https://doi.org/10.21203/rs.3.rs-2340384/v1

Lim J., Fong E., Goh C., Ng L., Merchant K., Low D.et al.. Fibrofatty filum terminale: long-term outcomes from a Singapore children’s hospital. Journal of Neurosurgery Pediatrics 2023;31(3):197-205. https://doi.org/10.3171/2022.8.peds22103

Riley J., Schomberg J., Mantha A., Guner Y., Cuevas A., Stephenson C., et al A Novel VACTERL Assessment Tool to Facilitate Counseling for Expectant Families. Fetal Diagnosis and Therapy 2023;50(5):368-375. https://doi.org/10.1159/000531611

Zeng F., Mbaye P., Gueye D., Seck N., Wellé I., Niang R., et al. Factors associated with mortality in congenital malformations of the gastrointestinal tract in a tertiary center in Senegal. World Journal of Pediatric Surgery 2023;6(1):e000463. https://doi.org/10.1136/wjps-2022-000463

Tagesse M., Gama M., Alebachew H., & Knfe G Pattern and outcomes of neonatal surgical patients in an Ethiopian Tertiary Hospital. 2024. https://doi.org/10.21203/rs.3.rs-3980027/v1

Saeed S., Khalid A., Farhan M., Basit J., Tousif K., Haider T.et al.. Epidemiological Comparison of Anorectal Malformation With Other Gastrointestinal Abnormalities in Patients in the Pediatric Ward. Cureus 2022. https://doi.org/10.7759/cureus.23136

Jerry A., Amboiram P., Balakrishnan U., Chandrasekaran A., Agarwal P., & Devi U Clinical Profile, Outcomes and Predictors of Mortality in Neonates Operated for Gastrointestinal Anomalies in a Tertiary Neonatal Care Unit- An Observational Study. Journal of Indian Association of Pediatric Surgeons 2022;27(3):287-292. https://doi.org/10.4103/jiaps.jiaps_10_21.

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Published

2025-07-14

How to Cite

ZARQOON , N., GONDAL , M., AZAM , Z., FAROOQ , H., NASEER , I., & NASEER , M. (2025). CLINICAL CORRELATION OF ASSOCIATED ANOMALIES IN DIFFERENT VARIANTS OF ANORECTAL MALFORMATION IN CHILDREN. Pakistan Journal of Intensive Care Medicine, 5(02), 234. https://doi.org/10.54112/pjicm.v5i02.234

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Original Research Articles