Gastrointestinal haemorrhage in a pre‐pubertal girl: Remember Turner syndrome and intestinal telangiectasia

Abstract

We report a case of intestinal telangiectasia (IT) in a 10-year-old girl with previously unrecognised Turner syndrome. She presented to a paediatric surgeon with two prior episodes of significant fresh rectal bleeding over the preceding 6 months. On examination, she was clinically pale, with a normal abdominal examination. She had clinical features of Turner syndrome: short stature, widely spaced nipples, short fourth metatarsals and a webbed neck. In addition to blood count and iron studies, a karyotype and hormonal assays were requested. She was admitted for the evaluation of the cause of bleeding. The haemoglobin was 51 g/dL, compared to 89 g/dL 2 months previously. The anaemia was of a hypochromic microcytic pattern with low serum iron and depleted iron stores. She was transfused with 2 units of packed red cells. A Meckel's scan was negative whilst gastroscopy and colonoscopy revealed a normal upper and lower gastrointestinal tract without peptic ulceration or macroscopic abnormality. Random colonic biopsies showed mild chronic non-specific inflammation of the caecum with no evidence of inflammatory bowel disease. A diagnostic laparoscopy identified the cause of bleeding as diffuse telangiectasia (Fig. 1). There were dilated tortuous anti-mesenteric vessels extending along a long length of proximal ileum and jejunum (Fig. 2). A small primordial uterus with no gonads was seen, consistent with Turner syndrome. A subsequent capsule endoscopy revealed no active ongoing bleeding site. Cardiac workup confirmed mild aortic stenosis with a tricuspid aortic valve and excluded coarctation. An abdominal ultrasound showed normal kidneys. The karyotype subsequently confirmed Turners syndrome (XO). She has been commenced on ferroliquid and paediatric endocrinological follow-up has been arranged.

Recurrent gastrointestinal bleeding due to vascular malformations in a girl with Turner syndrome

“…The incidence of GI vessels malformations in TS patients is estimated for 7% [3]. They can be asymptomatic, but also cause latent GI bleedings, leading to iron deficiency anemia, and in single cases can cause acute and recurrent GI bleeding [3,4]. The aim of this study was to present the case of a TS patient with such a problem and to show the current diagnostic tools of detection of vascular malformations in the GI tract.…”