Waugh syndrome: A rare coexistence of intussusception and intestinal malrotation: Case report and literature review

Abstract

Introduction

Waugh's syndrome, characterized by the concurrent presence of acute intussusception and gut malrotation, is a rare clinical entity. The relationship between these conditions is not well-explored, and the true incidence may be underreported.

Case presentation

A 4 month old male infant, with an uneventful medical history, presented to the pediatric emergency department due to irritability and rectal bleeding lasting one day. The infant had a history of bilious vomiting and dark bloody rectal discharge. Physical examination revealed a hypoactive, dehydrated child with a palpable mass in the left lower abdomen. Abdominal ultrasound indicated Colo-colonic intussusception, and attempts at hydrostatic reduction were unsuccessful. Subsequent CT scan revealed malrotation with ileo-Colo-rectal intussusception. The patient underwent a two-step operation, involving manual reduction and Ladd's procedure, with a successful recovery and no post-surgical complications.

Clinical discussion

Reviewing the cases, we explore the unique features of Waugh's syndrome, its diverse age presentation, and the challenges in timely diagnosis. Diagnostic modalities, including abdominal ultrasound and contrast studies, are discussed, emphasizing the importance of recognizing malrotation in conjunction with intussusception for appropriate management.

Conclusion

Our experience highlights the potential underrecognition of Waugh's syndrome and emphasizes the need for a high index of suspicion. The rarity of laparoscopic interventions in documented cases is noted, emphasizing the prevailing reliance on open surgical approaches. A call for prospective studies is made to determine the actual incidence of intussusception in intestinal malrotation cases and to enhance understanding for optimal patient management.

Highlights

• •The association between intussusception and malrotation, termed Waugh syndrome by Brereton et al., is an infrequent occurrence.
• •It is advised that children exhibiting bilious vomiting and subtle abdominal signs undergo upper gastrointestinal contrast studies.
• •The standard treatment involves surgical optimization followed by a 2-step surgical approach, with documented excellent outcomes.

1. Introduction

Intussusception stands out as one of the predominant causes of intestinal obstruction in the pediatric population. While it can manifest in children of any age, its primary impact is observed in those under 2 years old, with only 10–25 % of cases occurring in children older than that [1]. The peak incidence is notably between 5 and 7 months of age [2]. On the other hand, gut malrotation is characterized by an abnormality in the typical rotation of the midgut during the intrauterine period. Normally, there is a 270° counterclockwise rotation, leading to proper mesenteric fixation. Intestinal malrotation (IM) is defined as any deviation from the standard 270° counterclockwise rotation of the midgut during embryological development. This results not only in the misplacement of the small intestine but also in the improper fixation of the mesentery [3].

The uncommon combination of intestinal malrotation alongside intussusception was initially documented by George E. Waugh in 1911. Following a prospective study that validated this infrequent association, it was officially termed Waugh's syndrome (WS) by Brereton et al. [4]. To date, fewer than 100 cases have been reported [4,5]. In this clinical report, we present a child diagnosed with this rare combination with successful management. Our work has been reported in line with the SCARE criteria [6].

2. Case presentation

A 4 month old male infant, born via normal vaginal delivery with an uneventful peri-natal, natal, and post-natal history, presented to the pediatric emergency department with complaints of irritability and rectal bleeding lasting for one day. The infant had no significant past medical or surgical history, and there was no family history of inherited, chronic, genetic diseases, or malignancy.

The patient had a history of multiple episodes of non-projectile bilious vomiting with gastric content and rectal bleeding since afternoon. The last passage of stool was in the afternoon, and there was no reported fever or chills.

Upon admission, physical assessment revealed a hypoactive and dehydrated child with stable vital signs. The abdomen was soft and lax, with a palpable mass in the left lower abdomen, and negative peritoneal signs. Systematic physical examination was otherwise unremarkable. Routine laboratory investigations were within normal limits, and the patient received resuscitation with intravenous fluid bolus.

Abdominal ultrasound indicated a large target sign occupying the left abdominal cavity, and seems to involve the entire visualized large bowel down to the rectal region, and measures about 3 × 3.5 cm in axial dimension (Fig. 1). Features are suggestive of colon-rectal intussusception.

Fig. 1.

Ultrasound images showing a large target sign occupying the lower abdomen and extending to the left side, measuring 3.5 × 3 × 6.5 (transverse x anterior-posterior × craniocaudal, respectively), consistent with intussusception.

Right side of abdominal cavity had small bowel loops and left with large bowel, suggestive of intestinal malrotation. After one trial of hydrostatic reduction, the target sign is still stable in size and regional involvement.

Subsequently, an abdominal CT scan without contrast was performed and showed ileo-colo-rectal intussusception located in the left abdominal cavity. Small bowel loops are seen in the right hemi-abdominal cavity while large bowel is seen in the left side, features are in keeping with intestinal malrotation (Fig. 2).

Fig. 2.

Abdominal CT scan without contrast showing an ileo-colo-rectal intussusception located in the left abdominal cavity. Small bowel lops are seen in the right hemi-abdominal cavity while large bowel is seen in the left side indicating intestinal malrotation.

The patient was taken directly to the operating room, where laparoscopic intervention was converted to open reduction. During the operation, malrotation with ileo-Colo-rectal intussusception was identified (Fig. 3). Additionally, congested terminal ileum, appendix, and cecum were noted. A two-step operation was undertaken, involving manual reduction of the intussusception along with Ladd's procedure for intestinal malrotation, including adhesiolysis. The terminal ileum and cecum were found to be viable and returned to normal color after warm water compresses.

Fig. 3.

Intraoperative images showing intussusception (A &B), malrotation (C) and congested intestines (D).

The post-operative course was uneventful, and no specific or special post-surgical considerations were required for the patient, who demonstrated a successful recovery.

3. Discussion

Waugh's syndrome is an uncommon condition characterized by the simultaneous occurrence of acute-onset intussusception and gut malrotation. The true incidence of this syndrome remains undetermined, but as of 2017, fewer than 100 cases have been reported globally [7]. Chronic intussusception, comprising approximately 3 % of cases in children under 1 year and around 10 % in older children, is a distinct subset [8]. While the association of chronic intussusception with intestinal malrotation may be considered a component of Waugh's syndrome, it has been documented only once in the existing literature [9].

Regarding the etiology, existing evidence suggests that malrotation of the gut might elevate the likelihood of simultaneous acute intussusception, as proposed by Waugh and Lond. According to their suggestion, the ascending and descending colon are relatively free, lacking sufficient posterior wall attachment, potentially increasing the risk of ileocecal intussusception. The failure of primitive mesenteric folds to provide adequate strength for closing the mesenteric vessels could lead to the recurrent presentation of symptoms without complications from the pathology [9].

The age at which Waugh's syndrome (WS) manifests is highly diverse, spanning from 13 days to 17 years [9]. Despite this wide range, there have been reports of WS occurring in a preterm infant and even in a 56-year-old adult [4,10]. Clinically, WS typically presents with classical acute intussusception symptoms or more general and vague gastrointestinal symptoms. The coexisting malrotation is often identified later during the diagnostic workup or surgical exploration [4,9]. In our case, the patient presented with acute intussusception, and characteristic features of WS were not evident at the initial presentation.

In a case series from Sudan [11], four patients with Waugh's syndrome were reported within a span of six months, a frequency that may be deemed noteworthy for a rare syndrome. A comparable report by Breckon and Hadley at King Edward Hospital in Durban in 1998 documented six cases of this syndrome within a four-month period [12]. The male gender predominated in Waugh's syndrome, with four out of six cases at King Edward Hospital and three out of four cases at the hospital in Khartoum North displaying this pattern. Breckon and Hadley's patients were within the age range of 3–9 months, while the other study showed diversity in the ages of presentation. Preoperative optimization, including intravenous fluids, fresh frozen plasma, and electrolyte correction, was uniformly administered to all patients in both studies [11,12].

Abdominal ultrasound (US) proves to be a reliable diagnostic tool in cases of intussusception, exhibiting high sensitivity and specificity [13]. When Waugh's syndrome (WS) is suspected, the radiologist may identify an atypical configuration of the superior mesenteric artery (SMA) and superior mesenteric vein (SMV) in the context of intussusception. Subsequently, an upper gastrointestinal (GI) contrast study may be conducted to validate the presence of malrotation [4]. Following an abdominal US for intussusception, a contrast enema reduction can offer insights into associated intestinal malrotation by assessing the position of the cecum, which may deviate in 80 to 87 % of surgically confirmed cases of malrotation [14]. In our patient, abdominal US confirmed intussusception, but hydrostatic reduction proved ineffective due to the presence of massively distended and overlapping bowel loops.

Nonsurgical management of intussusception becomes less effective when associated malrotation is present, with a notable failure rate [4]. Even with a successful enema reduction of intussusception, the diagnosis of Waugh's syndrome (WS) might not be evident, potentially leading to a predisposition for recurrent intussusception [4,15]. The majority of documented WS cases have been treated through open surgery, while laparoscopic intervention has been reported in only one case [4,9,15].

The disparity between the high incidence of Waugh syndrome in Brereton study and the rarity of cases in the published reports suggests that many cases remained undiagnosed, possibly because most cases of intussusception are reduced nonsurgically by air or contrast enema and the radiological signs of malrotation are not clear in these situations [12].

4. Conclusion

In conclusion, the association between intestinal malrotation and intussusception might be more prevalent than currently reported. A prospective study is essential to investigate the presence of intestinal malrotation in patients with intussusception undergoing abdominal sonographic examinations, aiming to establish the true incidence of this relationship.

Consent

Written informed consent was obtained from the patient's parents/legal guardian for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Authorship

All authors attest that they meet the current ICMJE criteria for authorship.

Provenance and peer review

Not commissioned, externally peer-reviewed.

Ethical approval

Our institution has exempted this study from ethical review.

Funding

No funding or grant support was received for this study.

Guarantor

Khaled Abbadi.

Research registration number

• •Name of the registry: None.
• •Unique Identifying number or registration ID: None.
• •Hyperlink to your specific registration (must be publicly accessible and will be checked): None.

CRediT authorship contribution statement

• Writing the manuscript: Oadi N. Shrateh, Malvina Asbah, Asil Musleh, Khaled Abbadi

• Imaging description: Hadeel Ashqar, Oadi N. Shrateh, Malvina Asbah

• Reviewing & editing the manuscript: Wael Amro.

Declaration of competing interest

None.