Introduction

Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by skin extensibility, abnormal wound healing and joint hyper mobility.1-4 The striking clinical features are hyper elastic smooth skin that is prone to splitting with minor trauma, easy bruising, spontaneously resolving dislocations of joints, scoliosis and ocular features such as keratoconus depending on the type of EDS.1-8 Multiple hernias are usually a rule rather than exception in these patients. However, the abdominal symptoms are very rare presenting features of this disease.

We have treated a boy suffering from EDS with multiple hernias and poor wound healing. The unique feature in this child was rectal redundancy that caused intestinal obstruction and generalized abdominal distension, both of which got resolved after partial resection of the redundant rectum. No similar case was found in the literature.

Case Report

A one month old baby presented with right inguinal hernia, left undescended testis with hernia and supraumbilical hernia. Ten days following the repair of right inguinal hernia and supraumbilical hernia, he presented with features of obstructed left inguinal hernia for which a left inguinal herniotomy with left orchidopexy (as he had left undescended testis as well) was done. It was a large sliding hernia with appendix and a floating caecum. Post-operatively, the baby developed bronchiolitis that progressed to pneumonia and had to be managed in pediatric ICU.

The baby developed scrotal wound dehiscence on the 7th post-operative day, without any gross evidence of predisposing factors. However, with supportive management, the wound healed with secondary intension. A week later the baby developed generalized abdominal distension. Plain abdominal X-rays showed an even distribution of the gas throughout the gastro-intestinal tract up till rectum, with no cut off of gas (Figure 1). There was no vomiting but the patient produced high bilious aspirate through the nasogastric tube. Septic screen was negative and bowel sounds were normal. Rectal examination was normal and on direct questioning, the mother gave past history of similar episodes of spontaneously resolving abdominal distension. There was no history of similar illness in the family. The distension decreased once the flatus tube was passed rectally.

The barium enema study revealed no hold up of the contrast in the sigmoid colon. On fluoroscopy, the rectum was found to have a large sac like profile with a prominent posterior bulge. On carefully conducted pressure augmented barium enema, the anal canal appeared to have been anteriorly displaced due to this peculiar rectal configuration (Figure 2). However, the most important observation on the lateral film was a straight normal caliber anal canal and a Z-shaped rectum with sharp bending curves. A provisional diagnosis of intestinal obstruction due to a redundant rectum was considered. We planned rectal trimming via the posterior sagittal route, an approach that is commonly used in treating babies with anorectal malformations worldwide.

This finding along with the other observation of multiple hernias then drew our attention to the possibility of the presence of some connective tissue disorder. On examination of the baby, we found some other features consistent with EDS. They were loose hyper elastic skin over the joints though joint hyper mobility was not so clear (Figure 3). An earlier episode of delayed wound healing as well as large hernia could also be explained now.

On exploration through the posterior sagittal route, the rectum was found to be lengthy and redundant and could be delivered into the wound easily; unlike a normal rectum which lies snugly behind the bladder. There was no suggestion of a mesorectum. About 3.5 cm length of the rectum was resected at the point of maximum redundancy and a slightly oblique single layer anastomosis was carried out between the rectal ends using 3-0 vicryl interrupted sutures. The pelvic floor muscles were adequately developed and they were sutured with due precautions (since the baby had EDS) and protective colostomy was also done. The histopathological report of the resected rectal segment showed mucosal congestion only. The neural elements were normal and thereby, the possibility of Hirschsprung’s disease or neuronal intestinal dysplasia was ruled out.

On 8th post-operative day the baby developed parastomal wound dehiscence and bowel evisceration through this defect. Emergency repair was carried out for this. Barium enema study after three months showed straight unobstructed rectum (Figure 4). Following this the colostomy stoma was closed. Though the baby had been frequently requiring hospitalizations for his medical condition including gastroenteritis and bronchiolitis, his wounds have healed completely and over past four years, he has not had any problems in defecation

Discussion

EDS is a rare connective tissue disorder with an incidence of 1:5000 births.1 Different types (I - XI) have been described with certain type-specific clinical features,2-8 viz. type I (classic, severe form) and type II (milder form) are characterized with joint hypermobility, velvety skin, hyperextensibility and easy scarring. The classic form is caused by defect in type V collagen due to defective COLA5A1 and COLA5A2 genes and is inherited in an autosomal dominant pattern.[9] The basis of the poor wound healing in these patients is the deficiency of lysyl hydroxyl caused by gene mutation.[1]

The presentation pertaining to different systems differs in different types. The facial features typically include widely spaced eyes, high nasal bridge and prominent frontal bossing.[6,7,8] While these facial features were not very prominent in the baby treated by us, the skin laxity especially around the joints, feet and hands, was unmistakable and this together with the features of multiple hernias and a delayed wound healing clinched the diagnosis. The clinical features of the baby treated by us classify his disorder under type 1 EDS. We acknowledge a delay in reaching the diagnosis of EDS, despite the presence of multiple hernias in our patient, owing to rarity of this condition. It was the abnormally redundant rectum in such a young child that finally caused us to suspect a connective tissue disorder. Subsequently the other signs of EDS were detected including multiple hernia, poor wound healing and hyperelastic skin over the joints. The diagnosis of EDS is mainly based on clinical features and a number of major and minor clinical criteria, laid down by the medical advisory group and the Ehler-Danlos Support Group, UK in 1997.[3] The major criteria are: (a) skin hyperextensibity, (b) widened atrophic scars, (c) joint hypermobility and (d) positive family history.

The combination of the first three major diagnostic criteria has a high specificity for EDS, classic type. The presence of one or more minor criteria contributes to the diagnosis. The biochemical tests are very expensive and generally not employed for diagnostic purpose. The family history was not positive in our patient, and joint hypermobility was not clear as the child was quite young (the latter generally manifests when a child starts to walk). However, other major and minor criteria were present in the baby treated by us.

Among the various surgical conditions involving the rectosigmoid region leading to constipation and intestinal obstruction, Hirschsprung’s disease, neonatal intestinal dysplasia, duplication cyst of the rectum and sigmoid volvulus are prominent but to the best of our knowledge, no case of obstruction due to a redundant rectum has been reported till date. The redundancy of the recto-sigmoid area in our patient was in all probability due to the loose rectal connective tissue,its distal most location in the gut and thereby bearing the brunt of gravity too.

Till date no case of EDS with a predominant abdominal presentation and specifically with recurrent intestinal obstruction due to a redundant rectum, has been reported, though surgical complications of EDS have been described.[10] In face of paucity of literature and our greater experience with posterior sagittal anorectoplasty, it was considered worthwhile to resect the redundant rectum through posterior sagittal approach in order to straighten its course. Some authors do advise supplementation of vitamin C in the patients with type VI EDS, considering it to be caused by dysfunctional lysyl hydroxyl enzyme.[1]

In short, although EDS is a rare condition, its possibility should be kept in mind in a child presenting with multiple hernias. The parents should also be screened for the signs of this disease so that genetic counseling can be done for subsequent pregnancies.

References