Harderoporphyria in a Young Girl Suffering from Abdominal and Neurologic Pain: A Frequent Association?

Marino Silvia, Murabito Paolo, Venti Valeria, Marino Lidia, Falsaperla Raffaele, Sabino Luca, Sapuppo Annamaria and Pavone Piero

Department of Pediatric Emergency, University Hospital Policlinico-Vittorio Emanuele, Italy
Department of Intensive Care, University Hospital Policlinico-Vittorio Emanuele, Italy
Department of Pediatrics, University Hospital Policlinico-Vittorio Emanuele, Italy

^*Correspondance to: Pavone Piero 

 PDF  Full Text DOI: 10.25107/2474-1647.2135

Abstract

Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and last a short time. Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate. The attacks usually last for days to weeks. Complications may include paralysis, low blood sodium levels, and seizures. Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications. If the skin is affected, blisters or itching may occur with sunlight exposure. Here we report on a girl of 12 years old with harderoporphyria suffering from recurrent abdominal and neurologic pain. The children was homoallelic for the CPOX missense mutation C.980A>G (p.H327R). After one year of follow up the girl still have for few days recurrent abdominal pain; then a diet was started (without meat, fruit and vegetables) which was followed by a low and gradual resolution of symptomatology.

Keywords

Childhood; Neurological involvement; Abdominal pain; Porphyria

Cite the article

Silvia M, Murabito P, Valeria V, Lidia M, Raffaele F, Pavone P. Harderoporphyria in a Young Girl Suffering from Abdominal and Neurologic Pain: A Frequent Association? Clin Surg. 2018; 3: 2135.