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

Area of Science:

• Genetics
• Gastroenterology
• Ophthalmology

Background:

• Coats plus syndrome (CPS) is a rare genetic disorder linked to premature telomere shortening.
• CPS presents with multisystemic manifestations including cerebroretinal microangiopathy, growth deficiency, and osteopenia.
• Recurrent gastrointestinal (GI) bleeding affects up to 40% of individuals with CPS, posing life-threatening risks.

Observation:

• A 20-year-old female with CPS experienced two years of severe, recurrent GI bleeding.
• Conventional endoscopic methods failed to identify the source of bleeding.
• The patient's condition necessitated advanced diagnostic and therapeutic interventions.

Findings:

• Laparoscopic assisted enteroscopy was employed for diagnosis.
• Surgical intervention via enterectomy was performed.
• This combined approach successfully identified and treated the source of GI bleeding.

Implications:

• Laparoscopic assisted enteroscopy with enterectomy represents a novel and effective modality for managing complex GI bleeding in CPS patients.
• This case underscores the importance of considering advanced endoscopic techniques for rare genetic disorders with challenging symptoms.
• Successful treatment offers a potential pathway for improved patient outcomes in similar complex cases.