Crohn’s Disease in a Patient With Bardet-Biedl Syndrome: Random Anomaly or Rare Phenotypic Trait?

JPGN Reports · 5 authors, 3 centres

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TL;DR

Atypical endoscopic findings required surgical resection and histopathological confirmation, after which the patient responded well to a Crohn disease exclusion diet and maintenance infliximab.

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This case report describes a 13-year-old girl with genetically confirmed BBS7 who presented with weekly periumbilical abdominal pain, significant weight loss of 5.5 kg over 3 months, and stunted growth. Laboratory testing showed elevated C-reactive protein (95 mg/L), low albumin, and elevated fecal calprotectin (>6000 µg/g). Neither gastroscopy nor colonoscopy revealed macroscopic abnormalities, but abdominal ultrasound and MRI identified two stenotic segments of the terminal ileum with prestenotic dilatation. Histology of ileal biopsies showed mild inflammation with microgranulomas. Surgical resection was performed due to infliximab contraindication from latent tuberculosis, and histopathology of the resection specimen confirmed Crohn disease. Maintenance infliximab with methotrexate was initiated 6 months after surgery. This case highlights that IBD prevalence is significantly higher in BBS patients (1.51%) than the general population (0.40%), with an odds ratio of 3.83. The atypical presentation underscores the need for a low threshold for IBD diagnostic testing in BBS patients with gastrointestinal symptoms.

STUDY TYPE

case_report

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pediatric ophthalmology

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ORIGINAL PAPER

PMC10435024

Crohn’s Disease in a Patient With Bardet-Biedl Syndrome: Random Anomaly or Rare Phenotypic Trait?

JPGN Reports

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ABSTRACT

Abstract Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystem nonmotile ciliopathy. There are anecdotal reports of the co-occurrence of BBS and autoimmune diseases, including inflammatory bowel disease (IBD). We present the first case report of a child with BBS7 who developed Crohn disease, adding to the evidence on the association between BBS and IBD. A 13-year-old girl with BBS7 presented with abdominal pain and significant weight loss (−13%), but without other classical symptoms of IBD, such as diarrhea and blood loss. Fecal calprotectin was elevated, but on gastroscopy and colonoscopy, no macroscopic abnormalities were found. Ultrasound and MRI revealed an intestinal stenosis which was treated surgically. Histopathological examination confirmed the diagnosis Crohn disease. In conclusion, the reported co-occurrence of BSS and autoimmune diseases and the atypical presentation of IBD in this patient warrant a low threshold to perform diagnostic tests for IBD in patients with BBS and gastrointestinal symptoms. Keywords: Bardet-Biedl syndrome, BBS, BBS7, Crohn disease, IBD, inflammatory bowel disease, abdominal pain, gastroenterology

CITATION EXPORT

Margot L Zuidhof, Tim GJ de Meij, Sietse Q Nagelkerke et al.. Crohn’s Disease in a Patient With Bardet-Biedl Syndrome: Random Anomaly or Rare Phenotypic Trait?. JPGN Reports. (2023). https://doi.org/10.1097/PG9.0000000000000333

AUTHORS

5 · 3 CENTRES

Margot L Zuidhof, Tim GJ de Meij, Sietse Q Nagelkerke, Anne M Smets, Ilan JN Koppen

From the *Department of Pediatric Gastroenterology and Nutrition, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam & VU University, Amsterdam, the Netherlands
†Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
‡Department of Radiology and Nuclear Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.