Porphyria Presenting with Psychotic Symptoms and Developmental Regression: A Diagnostic Dilemma

Abstract We report a case of a 12-year-old boy who presented with acute onset of psychotic symptoms and later developed developmental regression and repetitive motor behavior. A number of investigations were done and urine was noted to be positive for porphobilinogen. A diagnosis of acute intermittent porphyria (AIP) was considered. AIP usually presents with abdominal pain, gastrointestinal disturbances, peripheral neuropathy, and psychiatric disturbances. The most common psychiatric symptoms include irritability, depression, anxiety, insomnia, hallucinations, and paranoia or altered consciousness. This case is unique as the only clinical manifestations were psychotic symptoms and developmental regression.