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186 Association of autoimmune disease and intussusception with KBG syndrome – a rare case report
  1. Apurva Hegde,
  2. Darshanika Thennakoon Gamage,
  3. Kosmas Kailidis
  1. UK


Background KBG syndrome is a rare autosomal dominant genetic condition(Morel Swols et al., 2017) characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability(Anon, n.d.) with a total of 150 reported cases(Anon, n.d.) in literature. Affected members in family show variable penetration(Kumar et al., 2009; Herrmann et al., 1975).

Coeliac disease (gluten sensitive enteropathy) is an autoimmune condition that primarily affects the small intestine and occurs in people at any age who become sensitive to a protein called gluten in their diet(Burden et al., 2014, Anon, n.d.).

This is the first reported case of KBG syndrome complicated with recurrent urinary tract infections(UTI), vesicoureteral reflux(VUR), anal stricture, recurrent intussusception and Coeliac disease.

Objectives To show the association of autoimmune disease and intussusception with KBG syndrome.

Methods A 16-year-old girl, diagnosed with KBG syndrome presented with recurrent abdominal pain, loose watery stools and loss of appetite for 1 year.

She presented to the hospital with recurrent UTI due to VUR from the age of 3 weeks up to date and had suffered from difficulties in passing stools from birth. However, an anal stricture was diagnosed and an ileostomy was performed at the age of 5 years. The genetic diagnosis of KBG syndrome was confirmed at the age of 10 years. Percutaneous endoscopic gastrostomy (PEG) was performed to manage feeding difficulties at the age of 12 years and she had a history of several spontaneously resolving intussusception episodes since last year. Intellectual disability, behavioral problems and developmental delay specially speech have been part of this problem(Morel Swols et al., 2017).

Her clinical examination in the recent admission was unremarkable except for pallor and right sided abdominal tenderness. The baseline investigations showed iron deficiency anemia and other causes for failure to thrive were ruled out. In addition to radiological diagnosis(by MRI) of intussusception, the second line investigations for abdominal pain and loose stools showed positive for anti-TTG antibody and which was later confirmed by genetic tests (HLA-DQ2 + HLA-DQ8) for coeliac disease.

Results Following the gluten free diet, her abdominal symptoms has shown improvement.

Conclusions KBG syndrome was diagnosed at a later stage in this patient due to the rareness of the condition. This patient has been suffering from the most of the complications of the disease out of which developmental delay and personality changes, led to delayed diagnosis of the abdominal pathology. The further evaluations with endoscopy procedures has been planned. Associated risk of autoimmune diseases and intussusception with KBG syndrome is yet to be identified.

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