Limits...
A case of spontaneous intestinal perforation in osteogenesis imperfecta.

Wheatley K, Heng EL, Sheppard M, Schneider H, Moat N, Cordingley J, Kaul S - J Clin Med Res (2010)

Bottom Line: The surgical procedure was largely uneventful but subsequent clinical course on the intensive care unit was complicated by bowel perforation requiring two laparatomies for a colonic resection and loop ileostomy formation.Histology of the excised tissue demonstrated absent musculature with no evidence of ischemia.Osteogenesis imperfecta; Bowel perforation; Collagen; Non-ischemic; Connective tissue disorders; Pathogenesis; Collagen vascular disorder; Acute abdomen.

View Article: PubMed Central - PubMed

Affiliation: Royal Brompton Hospital, London, UK.

ABSTRACT

Unlabelled: A 51-year-old male with known osteogenesis imperfecta (OI) (type 1) presented with symptoms and signs of infective endocarditis. Transthoracic echocardiography showed chordal rupture and free mitral regurgitation, resulting in an emergency mitral valve repair. The surgical procedure was largely uneventful but subsequent clinical course on the intensive care unit was complicated by bowel perforation requiring two laparatomies for a colonic resection and loop ileostomy formation. Histology of the excised tissue demonstrated absent musculature with no evidence of ischemia. Spontaneous non-ischemic bowel perforation as a complication of osteogenesis imperfecta is to date unreported. Our case highlights the need for a high index of suspicion of non-ischemic bowel perforation in patients with connective tissue disorders.

Keywords: Osteogenesis imperfecta; Bowel perforation; Collagen; Non-ischemic; Connective tissue disorders; Pathogenesis; Collagen vascular disorder; Acute abdomen.

No MeSH data available.


Related in: MedlinePlus

(a) Macroscopic specimen of perforated bowel; (b) Transverse section of large bowel immunostained for smooth muscle actin (SMA) with positive brown staining for SMA in muscularis mucosae, thick layer of circular and longitudinal muscle in area away from the area of perforation; (c) Transverse section of caecal large bowel from patient showing preserved muscularis mucosa muscle with total absence of the circular and longitudinal muscle fibres in the wall.
© Copyright Policy - open access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3104649&req=5

Figure 2: (a) Macroscopic specimen of perforated bowel; (b) Transverse section of large bowel immunostained for smooth muscle actin (SMA) with positive brown staining for SMA in muscularis mucosae, thick layer of circular and longitudinal muscle in area away from the area of perforation; (c) Transverse section of caecal large bowel from patient showing preserved muscularis mucosa muscle with total absence of the circular and longitudinal muscle fibres in the wall.

Mentions: The main histological findings of the excised tissue revealed a complete absence of circular and longitudinal muscle fibres with preservation of the muscularis mucosa of the perforated caecal segment (Fig. 2). Interestingly no histological signs of concurrent ischemia were present with an absence of mucosal oedema, hemorrhage, vascular congestion, necrosis or dusky discolouration [1]. The changes were focal within the caecum with other areas of the large bowel possessing normal layers of muscle (Fig. 2). In the context of the surgical findings of extremely friable tissue, it was concluded that rupture was not due to bowel ischemia but rather an intrinsic connective tissue defect with absence of the muscle layers in the caecum.


A case of spontaneous intestinal perforation in osteogenesis imperfecta.

Wheatley K, Heng EL, Sheppard M, Schneider H, Moat N, Cordingley J, Kaul S - J Clin Med Res (2010)

(a) Macroscopic specimen of perforated bowel; (b) Transverse section of large bowel immunostained for smooth muscle actin (SMA) with positive brown staining for SMA in muscularis mucosae, thick layer of circular and longitudinal muscle in area away from the area of perforation; (c) Transverse section of caecal large bowel from patient showing preserved muscularis mucosa muscle with total absence of the circular and longitudinal muscle fibres in the wall.
© Copyright Policy - open access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3104649&req=5

Figure 2: (a) Macroscopic specimen of perforated bowel; (b) Transverse section of large bowel immunostained for smooth muscle actin (SMA) with positive brown staining for SMA in muscularis mucosae, thick layer of circular and longitudinal muscle in area away from the area of perforation; (c) Transverse section of caecal large bowel from patient showing preserved muscularis mucosa muscle with total absence of the circular and longitudinal muscle fibres in the wall.
Mentions: The main histological findings of the excised tissue revealed a complete absence of circular and longitudinal muscle fibres with preservation of the muscularis mucosa of the perforated caecal segment (Fig. 2). Interestingly no histological signs of concurrent ischemia were present with an absence of mucosal oedema, hemorrhage, vascular congestion, necrosis or dusky discolouration [1]. The changes were focal within the caecum with other areas of the large bowel possessing normal layers of muscle (Fig. 2). In the context of the surgical findings of extremely friable tissue, it was concluded that rupture was not due to bowel ischemia but rather an intrinsic connective tissue defect with absence of the muscle layers in the caecum.

Bottom Line: The surgical procedure was largely uneventful but subsequent clinical course on the intensive care unit was complicated by bowel perforation requiring two laparatomies for a colonic resection and loop ileostomy formation.Histology of the excised tissue demonstrated absent musculature with no evidence of ischemia.Osteogenesis imperfecta; Bowel perforation; Collagen; Non-ischemic; Connective tissue disorders; Pathogenesis; Collagen vascular disorder; Acute abdomen.

View Article: PubMed Central - PubMed

Affiliation: Royal Brompton Hospital, London, UK.

ABSTRACT

Unlabelled: A 51-year-old male with known osteogenesis imperfecta (OI) (type 1) presented with symptoms and signs of infective endocarditis. Transthoracic echocardiography showed chordal rupture and free mitral regurgitation, resulting in an emergency mitral valve repair. The surgical procedure was largely uneventful but subsequent clinical course on the intensive care unit was complicated by bowel perforation requiring two laparatomies for a colonic resection and loop ileostomy formation. Histology of the excised tissue demonstrated absent musculature with no evidence of ischemia. Spontaneous non-ischemic bowel perforation as a complication of osteogenesis imperfecta is to date unreported. Our case highlights the need for a high index of suspicion of non-ischemic bowel perforation in patients with connective tissue disorders.

Keywords: Osteogenesis imperfecta; Bowel perforation; Collagen; Non-ischemic; Connective tissue disorders; Pathogenesis; Collagen vascular disorder; Acute abdomen.

No MeSH data available.


Related in: MedlinePlus