Caudal duplication syndrome with giant sacral lipomeningomyelocele and tethered cord: a rare case report and literature review.

BACKGROUND

Caudal duplication syndrome (CDS) is a rare congenital condition involving duplication of gastrointestinal, genitourinary, and distal spinal structures that originate from the cloaca. Lipomeningomyelocele (LMMC) with tethered cord represents an uncommon but surgically relevant manifestation within this heterogeneous spectrum.

CASE PRESENTATION: A 3-year-old girl with CDS and persistent cloaca was referred for neurosurgical evaluation of a giant sacral LMMC and a low-lying conus medullaris consistent with tethered cord. Although neurologically intact at presentation, spinal magnetic resonance imaging demonstrated significant tethering associated with a large lipomatous lesion. The patient underwent prophylactic microsurgical detethering and lipoma resection under intraoperative neuromonitoring. A cerebrospinal fluid fistula developed 2 weeks postoperatively and was successfully repaired. At follow-up, she remained neurologically stable with preserved motor function.

LITERATURE REVIEW: A focused review identified four previously reported cases of CDS associated with LMMC and radiologically confirmed tethered cord requiring surgical detethering. Cases lacking either LMMC or radiological evidence of tethering were not included in this subgroup, underscoring the importance of distinguishing isolated lipomas from true tethered cord pathology within the CDS spectrum.

CONCLUSION

CDS associated with LMMC and tethered cord represents a rare but clinically significant subset. Even in neurologically intact patients, radiological confirmation of tethering may justify early surgical intervention to prevent future neurological deterioration. Careful radiological assessment and multidisciplinary coordination are essential to optimize long-term functional outcomes.