JOURNAL OF MEDICAL & CLINICAL CASE REPORTS

Abstract

The case described in the present report is a very unusual one of complete colonic atresia in a Down syndrome infant with severe congenital heart disease (VSD, PDA, TGA) and anorectal malformation of high type. A patent colon was missing, and emergency surgery was to be undertaken, which involved colostomy accompanied by multidisciplinary care of cardiac and gastrointestinal malformations. Total colonic atresia is another incidental finding that is extremely uncommon in Down syndrome and is very challenging in its diagnosis and treatment. The case strongly indicates the need to diagnose early by intensive imaging and develop a synchronized surgical plan so that outcomes are as positive as possible in such gross, comorbid conditions in a neonate.

Key Clinical Message

Effective management of neonates with Down syndrome and complex congenital anomalies, including severe heart defects and high-type anorectal malformations, requires a coordinated multidisciplinary approach. Early diagnosis and collaborative care are crucial for optimizing outcomes and improving long-term survival and quality of life.

Keywords: Down syndrome, congenital heart defects, anorectal malformation, multidisciplinary care, neonatal management

►Total Colon Atresia in a Neonate with Down Syndrome: A Multidisciplinary Management Approach

Rahul Kumar Chaudhary^1*, Sajjad Ahmed Khan², Shristi Gupta²

¹Department of Anesthesiology and Critical Care, Birat Medical College Teaching Hospital, Morang, Nepal.

²Birat Medical College Teaching Hospital, Morang, Nepal.

Down syndrome (DS), also known as trisomy 21, is the most common chromosomal disorder, occurring in approximately 1 in 700 live births. It is characterized by a range of developmental and physical anomalies, including congenital heart defects, gastrointestinal malformations, and musculoskeletal abnormalities [1,2]. These anomalies often require a comprehensive and multidisciplinary approach for effective management [3].

The prevalence of congenital heart disease (CHD) in individuals with Down syndrome is significantly higher compared to the general population. Studies estimate that approximately 40-50% of individuals with Down syndrome have some form of CHD [4,5]. Among these, the most common defects include atrioventricular septal defects, ventricular septal defects (VSD), and patent ductus arteriosus (PDA) [6]. More complex anomalies, such as transposition of the great arteries (TGA), present additional challenges and necessitate specialized cardiac care and surgical interventions [7].

Gastrointestinal malformations are also prevalent in individuals with Down syndrome, with up to 15-20% of affected individuals presenting with such conditions [19]. Anorectal malformations (ARM) are among the most severe of these anomalies, often requiring immediate surgical intervention [20]. High-type anorectal malformations, where the anal opening is absent or severely malformed, are particularly complex and may necessitate multiple surgical procedures including colostomy and posterior sagittal anorectoplasty (PSARP) [21,22]. Furthermore, musculoskeletal issues such as fractures can occur due to either birth trauma or underlying skeletal abnormalities. Fractures in neonates with Down syndrome may be a result of obstetric complications or may be associated with inherent bone fragility [23]. Accurate diagnosis and prompt management of these fractures are crucial for preventing long-term complications and ensuring proper recovery.

The management of neonates with Down syndrome and multiple congenital anomalies requires a coordinated, multidisciplinary approach. Early identification through prenatal screening and comprehensive postnatal evaluation is critical in planning appropriate interventions. Multidisciplinary teams often include neonatologists, cardiologists, orthopedic surgeons, and gastrointestinal surgeons, who work together to address the diverse needs of these patients [24,25].

This case report highlights the management of a neonate with Down syndrome who presented with complex congenital heart defects, high-type anorectal malformation, and a left humerus fracture. The coordinated efforts of a multidisciplinary team were essential in addressing the severe congenital anomalies and ensuring effective treatment. This case underscores the importance of early diagnosis and a collaborative approach in managing neonates with Down syndrome and multiple congenital anomalies, aiming to improve survival and long-term outcomes [26].

Case History/Examination

A male neonate, 3 days old, was delivered via an emergency Lower Segment Cesarean Section (LSCS). The baby weighed 3.24 kg, which was appropriate for his gestational age, and he was born at full term. The maternal history included a previous LSCS, controlled gestational diabetes mellitus (GDM), and perinatal depression. Importantly, there was no evidence of Hypoxic Ischemic Encephalopathy (HIE), which is a significant consideration in cases of birth complications.

At birth, the infant’s initial condition was concerning. He did not cry immediately, prompting the need for immediate resuscitation measures. Bag and mask ventilation were administered for 30 seconds due to a heart rate below 100 beats per minute. Following this, chest ventilation was also required. The baby was subsequently admitted to the Neonatal Intensive Care Unit (NICU) for respiratory support and was placed on an oxygen hood delivering 5 liters per minute of oxygen.

Upon initial examination, the Apgar score was recorded at 5/10 at one minute, indicating a need for medical intervention. Physical examination revealed several anomalies: a short neck, a single transverse palmar crease, epicanthal folds, a flat nasal bridge, and an absent anal opening with otherwise normal genitalia. Additionally, there was swelling and crepitations noted over the left arm, alongside a detected cardiovascular murmur.

Methods (Differential Diagnosis, Investigations, and Treatment)

The differential diagnosis was broad given the infant's clinical presentation. Down syndrome was considered due to characteristic physical features such as epicanthal folds and a single transverse palmar crease. The presence of a cardiovascular murmur and the initial clinical symptoms necessitated a thorough cardiac evaluation. The absence of an anal opening raised significant concern for an anorectal malformation, which is a critical finding requiring prompt intervention. The swelling and crepitations in the left arm suggested possible birth-related trauma or a fracture.

Diagnostic investigations were crucial in formulating a comprehensive management plan. A cardiac consultation was sought, leading to echocardiography and a cross-table abdominal X-ray. The echocardiography revealed complex congenital heart disease, including Ventricular Septal Defect (VSD), Patent Ductus Arteriosus (PDA), and Transposition of the Great Arteries (TGA). These findings indicated significant cardiac anomalies that required specialized care. The cross-table abdominal X-ray confirmed a high-type anorectal malformation (Figure 1), and intraoperative findings during surgical exploration revealed total colonic atresia (Figure 2). Consequently, an excision and colostomy were performed. Additionally, orthopedic evaluation of the left arm identified swelling and a left humerus fracture, with intact distant vascularity suggesting a fracture rather than a vascular injury.

Figure 1: Cross-table Abdominal X-ray showing high anorectal malformation.

Figure 2: Bowel segment showing total colonic atresia

The treatment strategy involved a multidisciplinary approach. Given the high-type anorectal malformation and total colonic atresia, an urgent colostomy was performed to manage the condition and to prepare for future reconstructive surgery. Preoperative planning included optimizing the patient for a posterior sagittal anorectoplasty. During the surgical procedure, the presence of total colonic atresia necessitated additional surgical intervention to address the colonic obstruction.

Conclusion and Results (Outcome and Follow-up)

The comprehensive management of this neonate with Down syndrome and complex congenital anomalies highlights the importance of early detection and multidisciplinary intervention. The infant’s condition involved severe congenital heart defects, including VSD, PDA, and TGA, alongside a high-type anorectal malformation, total colonic atresia, and a left humerus fracture. The immediate and coordinated care involved neonatology, cardiology, orthopedics, and surgery, demonstrating the need for a team approach in managing such complex cases.

Following the surgical interventions, including colostomy and posterior sagittal anorectoplasty, the neonate was transferred to the neonatal ward with stable hemodynamics. Mechanical ventilation was initiated to support respiratory function. The collaborative efforts of the medical team enabled targeted surgical corrections and ongoing management, which were critical for the neonate’s survival and overall health.

The case underscores the critical role of comprehensive prenatal and postnatal evaluations in detecting and managing congenital anomalies. The early identification of complex congenital conditions and the implementation of a multidisciplinary approach were key to ensuring optimal outcomes. Continued monitoring and follow-up care remain essential to address any ongoing or future needs and to support the neonate's long-term development and well-being.

Discussion

This case report illustrates a rare and complex presentation of Down syndrome, marked by the concurrent occurrence of severe congenital heart defects and a high-type anorectal malformation. The combination of these anomalies, particularly in a neonate with Down syndrome, underscores the intricate challenges faced in managing such multifaceted cases.

Down syndrome, characterized by trisomy 21, is commonly associated with congenital heart defects, which occur in approximately 40-50% of affected individuals [1]. While various cardiac anomalies are known to co-occur with Down syndrome, the specific combination of Ventricular Septal Defect (VSD), Patent Ductus Arteriosus (PDA), and Transposition of the Great Arteries (TGA) is particularly unusual. TGA, in particular, is less frequently reported in the context of Down syndrome [2]. This case adds to the existing literature by presenting this uncommon combination, highlighting the need for heightened clinical awareness and readiness to manage such severe and complex congenital heart conditions.

In addition to the cardiac anomalies, the presence of a high-type anorectal malformation introduces further complexity. High-type anorectal malformations are rare but severe forms of gastrointestinal anomalies that necessitate prompt surgical intervention. These malformations often require a staged surgical approach, including colostomy and posterior sagittal anorectoplasty (PSARP) [9]. The management of such cases becomes even more challenging when combined with severe cardiac defects, as the neonate’s overall condition and surgical readiness are significantly impacted.

The case was further complicated by the presence of total colon atresia, a severe form of gastrointestinal obstruction that requires immediate surgical intervention. Total colon atresia in neonates with Down syndrome is exceedingly rare and adds a significant layer of complexity to the clinical picture. Studies have highlighted that while Down syndrome is associated with various gastrointestinal anomalies, the incidence of total colon atresia remains relatively low [16]. For example, a review by Cohen et al. noted that gastrointestinal anomalies, including atresias, are observed in a small percentage of Down syndrome cases, with total colon atresia being particularly uncommon [17]. The presence of both high-type anorectal malformation and total colon atresia necessitates a highly coordinated surgical approach, as each condition impacts the overall management strategy. The need for colostomy and subsequent reconstructive surgery for total colon atresia underscores the intricate nature of managing multiple severe anomalies in a single patient [18].

Previous studies have documented various cardiac anomalies in Down syndrome, but the specific combination of VSD, PDA, and TGA, alongside high-type anorectal malformation, is less frequently observed. For example, a review by Campbell et al. provides insight into the prevalence of congenital heart defects in Down syndrome, noting that while VSD and PDA are relatively common, the occurrence of TGA alongside other severe anomalies is less frequently reported [4]. Similarly, while high-type anorectal malformations are recognized in Down syndrome, their association with complex cardiac defects like TGA adds a unique dimension to this case [8].

The need for a multidisciplinary approach in managing such complex cases is highlighted by this report. Effective management of the neonate required coordination among neonatologists, cardiologists, orthopedic surgeons, and gastrointestinal surgeons. Each specialist played a critical role in addressing different aspects of the neonate’s condition. This case underscores the importance of a comprehensive and collaborative approach to ensure that all aspects of the neonate’s complex health needs are met. The integration of cardiac and gastrointestinal care is crucial in optimizing outcomes and minimizing risks associated with such severe congenital anomalies [6].

The surgical management included a colostomy and posterior sagittal anorectoplasty (PSARP), consistent with protocols for high-type anorectal malformations [10]. However, the complexity was further compounded by the need for simultaneous management of severe cardiac defects. This dual focus on both cardiac and gastrointestinal issues demonstrates the necessity of a tailored surgical approach that considers the unique challenges posed by each anomaly.

In comparing this case with similar reports, the combination of severe cardiac defects and high-type anorectal malformation in a neonate with Down syndrome is notably rare. The addition of total colon atresia further accentuates the rarity and complexity of this presentation. Previous literature often addresses either the cardiac or gastrointestinal aspects of Down syndrome separately, but comprehensive cases involving both severe heart defects, high-type anorectal malformation, and total colon atresia are less frequently documented [7]. This case provides valuable insights into the management of such rare and complex combinations, highlighting the critical role of early diagnosis, thorough preoperative evaluation, and coordinated care in improving outcomes.

Overall, this case report emphasizes the importance of a multidisciplinary approach in managing neonates with complex congenital anomalies. The rare combination of severe congenital heart defects, high-type anorectal malformation, and total colon atresia in a neonate with Down syndrome presents unique challenges that require careful planning and execution of medical and surgical interventions. By documenting this case, we contribute to the growing body of knowledge and provide a reference for clinicians facing similar complex scenarios in the future.

Conclusion

In summary, this case report underscores the intricate challenges of managing a neonate with Down syndrome who presents with a rare combination of severe congenital anomalies, including complex congenital heart defects, high-type anorectal malformation, and total colon atresia. The multifaceted nature of these conditions necessitates a highly coordinated and multidisciplinary approach to optimize treatment outcomes. By integrating the expertise of neonatologists, cardiologists, gastrointestinal surgeons, and orthopedic specialists, the care team was able to address the neonate’s diverse needs effectively. This case highlights the importance of early and accurate diagnosis, comprehensive preoperative planning, and collaborative care in improving survival and long-term health for patients with complex congenital anomalies. Continued research and documentation of such rare presentations are essential to enhance our understanding and management of similar cases in the future.

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