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Cloacal Dysgenesis Sequence in a Preterm Neonate.

Alexandra Vacaru1, Mitchell M Won1, Steven L Raymond2

  • 1School of Medicine, Loma Linda University, Loma Linda, CA, USA.

The American Journal of Case Reports
|February 27, 2024
PubMed
Summary

Cloacal dysgenesis sequence (CDS) is a rare congenital anomaly. Early detection and surgical intervention are crucial for managing this complex condition in neonates.

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Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Developmental Biology

Background:

  • Cloacal malformations arise from disruptions in apoptosis, cell growth, and maturation.
  • Cloacal dysgenesis sequence (CDS), or urorectal septum malformation sequence, is a rare variant characterized by the absence of a perineal orifice.
  • Existing classification systems for cloacal malformations are limited.

Observation:

  • A female neonate presented with a distended abdomen, ascites, ambiguous genitalia, absent urethra, no vaginal or perineal opening, and clubfoot.
  • Prenatal imaging identified bilateral multicystic dysplastic kidneys, leading to in utero vesicoamniotic shunt placement.
  • Physical examination revealed findings consistent with CDS, despite comprehensive prenatal care.

Findings:

  • Prenatal imaging may suggest urinary tract abnormalities but often fails to diagnose CDS definitively.
  • Surgical management included exploratory laparotomy with diverting colostomy, mucous fistula creation, tube vaginostomy, shunt removal, and suprapubic tube placement.
  • The neonate recovered well post-operatively without complications.

Implications:

  • CDS is an uncommon pediatric condition requiring prompt medical and surgical management.
  • This case highlights the challenges in prenatal diagnosis of CDS.
  • Early detection and intervention are critical for improving outcomes in neonates with CDS.