Trofinetide-Induced Enterocolitis Syndrome in a Child with Rett Syndrome

Area of Science:

• Neuroscience
• Gastroenterology
• Pharmacology

Background:

• Trofinetide is the first FDA-approved treatment for Rett syndrome.
• Gastrointestinal issues, mainly diarrhea, are common trofinetide side effects.
• Severe immune-mediated reactions to trofinetide have not been previously documented.

Purpose of the Study:

• To report a case of a severe immune-mediated reaction to trofinetide.
• To highlight the potential for drug-induced enterocolitis syndrome (DIES) with trofinetide.
• To emphasize the importance of differentiating DIES from osmotic diarrhea.

Main Methods:

• Case report of a young girl with genetically confirmed Rett syndrome.
• Detailed observation of adverse events following trofinetide administration and rechallenge.
• Diagnostic consideration of food protein-induced enterocolitis syndrome (FPIES).

Main Results:

• The patient experienced emesis, pallor, and lethargy after 2 months of trofinetide.
• Symptoms recurred upon medication rechallenge, consistent with FPIES/DIES.
• This is the first reported case of FPIES/DIES triggered by trofinetide.

Conclusions:

• Trofinetide can cause severe immune-mediated reactions, including FPIES/DIES.
• Distinguishing FPIES/DIES from dose-dependent diarrhea is crucial for patient management.
• Vigilance is essential when prescribing trofinetide to children with neurodevelopmental disorders.