Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome

Abstract

Patient: Male, 6 Final Diagnosis: Colonic perforation secondary to vascular Ehlers Danlos Syndrome Symptoms: Abdominal pain • constipation Medication: — Clinical Procedure: Loop colostomy followed by total colectomy and ileostomy Specialty: Surgery Objective: Unusual clinical course Background: Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders with heterogeneous clinical features associated with varying genetic mutations. EDS type IV, also known as vascular EDS (vEDS), is the rarest type but has fatal complications, including rupture of major vasculature and intestinal and uterine perforation. Intestinal perforation can be spontaneous or a consequence of long-standing constipation, a common symptom among patients with EDS. Case Report: We present a case of a 6-year-old boy with the previous diagnosis of vEDS who presented with colonic perforation from a stercoral ulcer. He underwent diagnostic laparoscopy and loop colostomy, with an uneventful postoperative course. Unfortunately, he developed a second colonic perforation 14 months after the initial episode and underwent total abdominal colectomy with end ileostomy. Conclusions: Intestinal perforation is a well-documented and devastating complication of vEDS. However, spontaneous intestinal perforation is extremely rare in a young child. Therefore, the diagnosis of vEDS should be included in the differential diagnosis if a child presents with intestinal perforation. There is no clear guideline available for surgical management of colonic perforation in patients with vEDS, but total abdominal colectomy appears to provide the best chance of preventing recurrent perforation.

Segmental Absence of Intestinal Musculature in a Child with Type IV Ehlers–Danlos Syndrome

“…A bowel perforation is a known complication in patients with vEDS, but usually oc curs later in life with an average age of 21 years [13,14]. Colonic perforation, more speci ically the sigmoid colon, is the most common place for spontaneous rupture of the gastro intestinal tract [13][14][15][16][17].…”

“…A bowel perforation is a known complication in patients with vEDS, but usually oc curs later in life with an average age of 21 years [13,14]. Colonic perforation, more speci ically the sigmoid colon, is the most common place for spontaneous rupture of the gastro intestinal tract [13][14][15][16][17]. A review of 220 patients with confirmed vEDS showed that 40% had a bowel perforation, most of which consisted of perforation in the sigmoid colon [14 One case report of a six-year-old boy indicated that he had two bowel perforations-on Due to intraoperative findings of the friable mesentery and fragile colonic tissue, there was concern about a connective tissue disorder.…”

“…EDS is a connective tissue disorder characterized by hypermobile joints, easy bruising, and fragile skin, but can also include changes in stature, clubfoot, small chin, mitral valve prolapse, and spontaneous pneumothorax [12][13][14]. It is an overarching disease with several subtypes, all of which have defective collagen formation [12].…”

Gastric Perforation Leading to The Diagnosis of Classic Ehlers Danlos syndrome: A Case Report of an Unusual Presentation.

“…These approaches range from conservative non-surgical management of intestinal perforation to more conventional surgical management with resection of appropriate segments of the gut (20) 25) (26 (27) . Some cases underwent segmental bowel resection and primary repair with stoma creation with attempts of reversal afterward (18) (28) .…”

Vascular Type of Ehlers–Danlos Syndrome – a Rare Monogenic Connective Tissue Disease

“…Повышенная летальность при сосудистом типе синдрома Элерса-Данло обусловлена спонтанным разрывом стенок сосудов среднего и крупного калибров, стенок полых внутренних органов: кишечника, матки, мочевого пузыря; реже наблюдаются пневмои гемоторакс, внутрилегочные гематомы [6][7][8].…”