Double Threat in a Newborn: High Anorectal Malformation with Pouch Colon and Bilateral Multicystic Dysplastic Kidneys – A Rare Case Report

ABSTRACT

The coexistence of bilateral multicystic dysplastic kidneys (MCDKs) and high anorectal malformation with pouch colon is exceptionally rare. The combination results in a nonsurvivable condition due to complete renal failure, posing complex diagnostic and management challenges. A full-term male neonate presented with absent anal opening, limb and auricular deformities, and progressive anuria since birth. Antenatal history was unavailable. Clinical examination revealed bilateral clubfoot and normal male genitalia. Laboratory evaluation showed steadily worsening renal function. Ultrasound demonstrated bilateral MCDK with multiple cysts and gross hydronephrosis. A high-divided sigmoid colostomy was performed, and intraoperatively, a Type IV pouch colon was identified. Despite supportive management, including percutaneous nephrostomy, no urine output was achieved. Given the confirmed diagnosis of bilateral nonfunctioning kidneys and poor prognosis, the family opted for termination of care and support. This case highlights the diagnostic and ethical challenges associated with managing rare, fatal congenital anomalies in neonates. Early antenatal detection, when available, may facilitate better parental counseling and decision-making.

INTRODUCTION

Congenital anomalies of the kidney and urinary tract (CAKUT) and anorectal malformations (ARMs) are major contributors to neonatal morbidity. Among these, bilateral multicystic dysplastic kidney (MCDK) is rare and typically fatal due to the complete absence of renal function.[1] High ARM with pouch colon, a rare variant more common in the Indian subcontinent, often coexists with genitourinary defects.[2,3] Association of ARMs with CAKUT is well recognized, with reported urological anomalies in up to 30%–50% of cases. These commonly include vesicoureteral reflux, hydronephrosis, and renal agenesis, whereas bilateral renal dysplasia or MCDKs are distinctly uncommon and usually associated with a poor or fatal prognosis.

The coexistence of Type IV pouch colon and bilateral MCDK is exceptionally rare and presents unique diagnostic and ethical challenges. This report underscores the need for early postnatal evaluation in the absence of antenatal history and emphasizes the importance of multidisciplinary care in such complex, life-threatening anomalies.

CASE REPORT

A 1-day-old full-term male neonate, born via cesarean section for oligohydramnios, was referred with absent anal opening, nonpassage of meconium, tachypnea, and feeding intolerance. Clinical examination revealed a sick-appearing, tachypneic neonate with SpO₂ of 92% on room air. There was no anal opening, and the buttocks were moderately developed bilaterally with absent anal dimple and hyperpigmentation in the perineum. Bilateral clubfoot Congenital Talipes Equinovarus (CTEV) and left auricular deformity were noted. Abdominal examination showed mild distension without palpable mass. Genitalia were normal, with a well-formed phallus and both testes descended. No syndromic facies were observed, and other systems were clinically unremarkable. Babygram erect X-ray was done, and it was suggestive of hugely dilated colon occupying more than half the abdominal width [Figure 1].

Figure 1.

Babygram erect X-ray showing a hugely dilated colon occupying more than half the abdominal width. Nasogastric tube in situ reaching till the stomach ruling out associated esophageal anomalies

The child's kidney function test showed a worsening trend on day 1 of presentation it was urea 29.4 mg/dl, creatinine 1.62 mg/dL which increased on DAY 4 Urea 80.6 mg/dL, creatinine 4.24 mg/dL. Ultrasound demonstrated bilateral MCDKs with multiple noncommunicating cysts and severe parenchymal thinning; the right kidney also showed a markedly dilated pelvicalyceal system with cortical thinning, with nonvisualization of bladder filling [Figure 2]. Abdominal imaging also raised suspicion of a pouch colon.

Figure 2.

(a and b) Ultrasound image of the left kidney – Multiple noncommunicating cystic lesions replacing the normal renal parenchyma, consistent with features of multicystic dysplastic kidney. No identifiable renal sinus or normal cortex is visible, suggestive of a nonfunctioning left kidney. (c and d) Ultrasound image of the right kidney – Markedly dilated pelvicalyceal system, indicating hydronephrosis. Cortical thinning noted. A percutaneous nephrostomy was performed underultrasonography (USG) guidance on this side

On day 2 of life, the child underwent a high-divided sigmoid colostomy, and intraoperatively, a Type IV pouch colon was identified, wherein the sigmoid colon opened into a dilated colonic pouch, with the distal bowel segment being collapsed and nonfunctional.

Per urethral catheterization and right-sided percutaneous nephrostomy (PCN) were attempted to exclude a potentially reversible obstructive cause of anuria. However, the absence of urine output following these interventions confirmed the nonfunctioning nature of the dysplastic kidneys, and no further attempts at renal salvage were pursued. Given the unequivocal ultrasonographic appearance and clinical course (persistent anuria despite diversion), additional radionuclide studies (e.g., Dimercaptosuccinic Acid (DMSA)) were not pursued.

Given the nonsurvivable nature of bilateral MCDK, absence of urine output despite intervention, and poor prognosis, the family opted for termination of care and support following multidisciplinary counseling.

DISCUSSION

This case presents a rare and fatal combination of high ARM with Type IV pouch colon and bilateral MCDKs. Bilateral MCDK is an uncommon and usually lethal anomaly, where both kidneys are replaced by nonfunctioning cysts lacking excretory capability. While this diagnosis is often suspected via antenatal imaging showing oligohydramnios and cystic renal anomalies, the absence of prenatal data in our case meant that recognition was delayed until postnatal evaluation confirmed the extent of renal dysfunction.

Congenital pouch colon, particularly Type IV, has been shown to have a higher association with genitourinary anomalies compared to other forms of ARM. Reported associations include hydronephrosis, renal agenesis, vesicoureteral reflux, and urethral anomalies. The presence of bilateral MCDKs in association with pouch colon, however, is exceedingly rare, making the present case unique and clinically significant.

ARM with Type IV pouch colon, more commonly reported in South Asia, is characterized by colon replacement with a dilated pouch and frequently coincides with genitourinary anomalies.[2] Although renal anomalies appear in 30%–50% of ARM cases, the concurrence of bilateral MCDK is exceptionally rare and scarcely documented.[1,2,3]

Renal dysplasia is diagnosed based on characteristic ultrasonographic features, including multiple noncommunicating cysts, absence of normal corticomedullary differentiation, and severely thinned or absent renal parenchyma. This distinguishes it from obstructive hydronephrosis, where a dilated collecting system with preserved renal parenchyma is typically seen. In our case, the absence of urine output despite PCN and worsening renal parameters confirmed the nonfunctioning nature of the dysplastic kidneys, supporting the diagnosis of bilateral MCDKs rather than reversible obstruction.

Additional anomalies in our patient – such as bilateral clubfoot and auricular deformity – suggest a possible vertebral anorectal cardiac renal limb anomalies (VACTERL) association, which requires at least three component anomalies (our case had ARM, renal, and limb anomalies). Full evaluation (including cardiac and vertebral systems) was not feasible, yet the pattern supports this consideration.

Although the constellation of ARM, renal anomaly, and limb defect raises the possibility of a VACTERL association, the presence of bilateral MCDKs with severe anuria and oligohydramnios also overlaps with features of Potter’s sequence. Potter’s sequence is characterized by renal agenesis or severe renal dysplasia leading to oligohydramnios and its secondary effects. In the present case, the combination of structural ARM with pouch colon and limb anomalies favors a VACTERL spectrum, with renal dysplasia contributing to a Potter-like phenotype rather than representing a pure Potter’s sequence.

Despite surgical intervention for ARM (high-divided sigmoid colostomy), the renal failure was irreversible. Attempts at PCN produced no sustained urine output, reinforcing the absence of functional kidneys. While peritoneal dialysis is preferred in neonates, its utility in bilateral MCDK is purely palliative with no restoration of renal function.[4,5,6] Given the poor prognosis and lack of options for renal recovery or transplantation in the neonatal period, the family opted for termination of care and support.

This case underscores the critical importance of antenatal anomaly scans, multidisciplinary postnatal evaluation, and ethical decision-making in cases with a clear nonsurvivable prognosis.

CONCLUSION

This case illustrates an extremely rare and fatal association of high ARM with Type IV pouch colon and bilateral MCDK, culminating in early-onset anuria and fatal renal failure. It emphasizes the importance of antenatal diagnosis, prompt multidisciplinary assessment, and compassionate counseling to guide care decisions in neonates with lethal congenital anomalies.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given consent for images and other clinical information to be reported in the journal. The guardian understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Conflicts of interest

There are no conflicts of interest.

Funding Statement

Nil.