Role of Laparoscopy in Severe Gastrointestinal Bleeding Secondary to Coats Plus Syndrome

TL;DR

This paper presents a case where laparoscopic techniques successfully diagnosed and treated severe GI bleeding in a rare genetic disorder called Coats plus syndrome.

Contribution

The paper introduces laparoscopic assisted enteroscopy with enterectomy as a novel approach for managing GI bleeding in Coats plus syndrome.

Findings

Conventional endoscopy failed to identify the source of GI bleeding in a 20-year-old female with Coats plus syndrome.

Laparoscopic assisted enteroscopy with enterectomy successfully diagnosed and treated the bleeding.

This approach offers a potential new diagnostic and therapeutic modality for similar cases.

Abstract

Coats plus syndrome (CPS) is an exceedingly rare genetic disorder associated with premature telomere shortening. The syndrome, also known as cerebroretinal microangiopathy with calcifications and cysts, has a multisystemic manifestation. It may present as brain abnormalities, seizures, osteopenia, prenatal and postnatal growth deficiency, and portal hypertension, among others. Up to 40% of affected individuals manifest recurrent gastrointestinal (GI) bleeding which can be life-threatening in some cases. Treatment for GI bleeding is not standardized and is therefore individualized based on the patient's clinical status, comorbidities, and resource availability. We herein present a case of a 20-year-old female with CPS and a two-year history of severe recurrent GI bleeding unable to be identified by conventional endoscopy. This report highlights successful laparoscopic assisted enteroscopy with enterectomy as a novel diagnostic and therapeutic modality in this population.