Publication:

Paediatric hereditary coproporphyria: a diagnostic challenge

Hereditary coproporphyria (HCP) is a hepatic porphyria, presenting with acute attacks of neurovisceral symptoms. We present a case of a young girl presenting with abdominal pain and vomiting episodes starting with menses. She also had severe hyponatremia and seizures. Laboratory investigations including urine and fecal protoporphyrin were negative, 10% dextrose solution and sodium level correction with supportive treatment was given. With this treatment her condition significantly improved but she presented again after a month with similar complaints at the time of her menses. Genetic testing was done and diagnosis of HCP was made. It can be concluded that considering Porphyrias in the differential diagnosis for repeat episodes of unexplained abdominal pain can help initiate early treatment and prevent complications.