Colonic lymphoid hyperplasia in melanosis coli

Area of Science:

• Gastroenterology
• Neurology
• Genetics

Background:

• Rett syndrome is a rare neurodevelopmental disorder characterized by severe intellectual disability, motor deficits, and autonomic dysfunction.
• Constipation is a common gastrointestinal symptom in patients with Rett syndrome, often requiring medical intervention.

Observation:

• Colonoscopy in a patient with Rett syndrome revealed multiple sessile, polypoid lesions throughout the colon and rectum.
• These lesions were associated with generalized melanosis coli, a condition characterized by dark pigmentation of the colonic mucosa.
• White nodules, representing lymphoid tissue, were visible due to the absence of pigment deposition, mimicking colonic polyposis.

Findings:

• This is the first documented case of melanosis coli coexisting with Rett syndrome.
• The observed white nodules are attributed to lymphoid hyperplasia, a known feature in some neurodevelopmental disorders.
• The combination of melanosis coli and lymphoid hyperplasia presents a unique endoscopic finding in Rett syndrome.

Implications:

• This case highlights the importance of considering gastrointestinal manifestations in Rett syndrome beyond constipation.
• Understanding the mechanisms of lymphoid hyperplasia and melanosis coli in this context may offer insights into the pathophysiology of Rett syndrome.
• Further research is warranted to explore the prevalence and significance of these colonic findings in the Rett syndrome population.