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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

Blue sclera of patient.
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Figure 1: Blue sclera of patient.

Mentions: Clinical examination revealed the well recognised extra skeletal features of OI namely blue sclera (Fig. 1) and ligamentous laxity. Tachypnoea with a respiratory rate of twenty-six was noted. Auscultation of the praecordium revealed a grade IV pansystolic mumur heard loudest in the mitral area - previously unrecorded and assumed to be new in onset. There were no peripheral stigmata of endocarditis and no evidence of fluid overload. An electrocardiogram (ECG) showed sinus rhythm with no signs of acute ischemia. The presence of pyrexia, likely new-onset murmur and raised inflammatory markers led to a working diagnosis of infective endocarditis. An empirical antibiotic regimen of intravenous benzylpenicillin and gentamicin was commenced after serial blood cultures were taken. An urgent transthoracic echocardiogram demonstrated a bright mobile mass attached to the anterior mitral valve leaflet (AVML) suggestive of vegetation with moderate to severe mitral regurgitation.


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)

Blue sclera of patient.
© Copyright Policy - open access
Related In: Results  -  Collection

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

Figure 1: Blue sclera of patient.
Mentions: Clinical examination revealed the well recognised extra skeletal features of OI namely blue sclera (Fig. 1) and ligamentous laxity. Tachypnoea with a respiratory rate of twenty-six was noted. Auscultation of the praecordium revealed a grade IV pansystolic mumur heard loudest in the mitral area - previously unrecorded and assumed to be new in onset. There were no peripheral stigmata of endocarditis and no evidence of fluid overload. An electrocardiogram (ECG) showed sinus rhythm with no signs of acute ischemia. The presence of pyrexia, likely new-onset murmur and raised inflammatory markers led to a working diagnosis of infective endocarditis. An empirical antibiotic regimen of intravenous benzylpenicillin and gentamicin was commenced after serial blood cultures were taken. An urgent transthoracic echocardiogram demonstrated a bright mobile mass attached to the anterior mitral valve leaflet (AVML) suggestive of vegetation with moderate to severe mitral regurgitation.

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