Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage

Area of Science:

• Genetics and rare diseases
• Ophthalmology
• Gastroenterology

Background:

• Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts) is a rare, autosomal recessive multisystemic disorder.
• It affects the eyes, brain, bones, and gastrointestinal system, often involving vascular malformations like intestinal telangiectasias.
• Gastrointestinal bleeding in Coats plus syndrome is frequently linked to hepatic failure or vascular abnormalities within the GI tract.

Observation:

• A patient presented with recurrent gastrointestinal bleeding, bilateral exudative retinopathy, and intracranial calcification.
• The patient was diagnosed with Coats plus syndrome based on these clinical manifestations.
• Recurrent gastrointestinal bleeding episodes were managed with monthly octreotide injections.

Findings:

• Coats plus syndrome should be considered in patients with unexplained recurrent gastrointestinal bleeding and systemic findings.
• Vascular malformations are a significant feature of Coats plus syndrome, contributing to GI bleeding.
• Octreotide demonstrated efficacy in controlling life-threatening gastrointestinal hemorrhage in this case.

Implications:

• Octreotide treatment is a viable therapeutic option for managing severe gastrointestinal bleeding in Coats plus syndrome.
• Long-term octreotide therapy may be beneficial for selected pediatric patients with this condition.
• Early recognition and management of vascular complications are crucial for patients with Coats plus syndrome.