Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome (SGBS) is a rare, partially recessive X-linked syndrome which classically features pre- and post-natal macrosomia including macrocephaly, coarse facial features, organomegaly and multiple congenital abnormalities [1, 2]. Relevant to this case, patients with SGBS have been described with intestinal malrotation, pyloric rings, Meckel's diverticulum, hypotonic visceroptosis (prolapse of abdominal viscera away from normal position) in addition to umbilical, inguinal and diaphragmatic hernias [3], all of which may predispose to gastrointestinal obstruction. Whilst there are over 300 articles on SGBS within the literature, to our knowledge there is no report of an internal hernia in association with SGBS.
Internal hernias
Internal hernias are defined as protrusion of viscera through a defect in the peritoneum or mesentery, into a secondary space within the abdominal cavity. Internal hernias are an uncommon cause of acute abdominal presentations (0.5-5% cases of small bowel obstruction), result in closed loop configuration and are important to diagnose promptly due to the risk of progression to strangulation [4]. Internal hernias can be divided into the following subcategories [5]:
Paraduodenal Hernia
Left paraduodenal hernia is caused by protrusion of bowel to the left through the Fossa of Landzert (a fossa formed by the lifting up of a peritoneal fold by the inferior mesenteric vein).
Right paraduodenal hernia occurs in the opposite direction through the fossa of Waldeyer which is inferior to the 3rd segment of the duodenum and posterior to the superior mesenteric artery.
Foramen of Winslow Hernia
Bowel may herniate through the potential opening between the greater and lesser peritoneal cavity at the Epiploic Foramen of Winslow, marginated anteriorly by main portal vein / bile duct and posteriorly by IVC.
Pericaecal Hernia
Herniation may occur through one of four anatomical peritoneal fossae within the ileocaecal region, or alternatively through congenital or acquired defects within the mesentery of the caecum or appendix. Most often ileum passes posteriorly to occupy the right paracolic gutter.
Intersigmoid Hernia
Bowel may herniate through the intersigmoid fossa, "V"-shaped peritoneal pouch between the two loops of the sigmoid colon and its mesentery.
Transmesenteric, Transomental and Transmesocolic Hernias
Bowel may herniate through the small bowel mesentery, through the greater omentum or more rarely through defects in the transverse mesocolon.
Falciform Ligament Hernia
Bowel herniation through defect in the falciform ligament is a rare cause of internal hernia, most leading to bowel incarceration [6].
Retroanastomotic Hernia
These hernias occur after partial gastrectomy or gastrojejunostomy. Bowel herniates into potential space created by the gastrojejunostomy and afferent jejunal loop anteriorly, ligament of Treitz inferiorly and transverse mesocolon superiorly.
Supravesical and Pelvic Hernias
Rarely, bowel may herniate between remnants of the median, and left or right umbilical ligaments in the case of supravesical hernia. Other pelvic hernias result from rare defects in the broad ligament and perirectal fossa.
Case of right paracaval hernia
A 37-year-old male presented to the emergency department with chest pain, fever and cough, with background of SGBS and history of recurrent chest infections. Inflammatory markers were raised (WCC 15.7 x 109 /L, CRP 244 ng/L). Inpatient CT chest (Day 1) demonstrated right lower lobe consolidation, small right-sided pleural effusion and unusual collection of gas-filled bowel loops below the right hemidiaphragm (Chilaiditi sign).
Right lower lobe pneumonia was diagnosed and the patient treated with IV antibiotics. The dilated loops of bowel were caecum and terminal ileum between the liver and right hemidiaphragm, however there was no evidence of bowel obstruction at this stage. (NB The incidental finding of ‘Chilaiditi’s sign’ on the scanogram (which describes the interposition of colon between the liver and right hemidiaphragm), should be differentiated from ‘Chilaiditi syndrome’, in which the patient is symptomatic [7]). At the time of this imaging, the patient was asymptomatic. This case is unusual in that the Chilaiditi’s sign was created by ileocaecum passing posterosuperior to the liver, as opposed to passing anterior to the liver to reside below the right hemidiaphragm - which is usually the case.
In keeping with the history of SGBS, several anatomical anomalies were present on CT chest including wide sternum, right-sided aortic arch with aberrant left subclavian artery, and left paraoesophageal oval fluid structure consistent with duplication cyst.