Giovanna Graziadei1*, Diana Spinelli2, Francesca Granata1, Valentina Brancaleoni1 and Elena Di Pierro1
1Rare Diseases Center, IRCCS Ca 'Granda Foundation - Maggiore Policlinico Hospital, Italy
2Radiology Residency School, University Milano-Bicocca, Italy
Hereditary Coproporphyria (HCP) is a rare genetic disease that is characterized by neurological acute attacks after puberty with fatal systemic complications; it is rarely accompanied by cutaneous symptoms. This report describes a case in which HCP was suspected and confirmed by raised urinary and fecal porphyrins and a novel missense variant in the coproporphyrinogen oxidase gene, the c.1348 A>G (p.Arg450Gly) mutation, which segregated in three other family members. This case suggests clearly that when a patient is admitted at Emergency room with atypical unexplained neurologic/psychiatric and/or gastrointestinal symptoms, porphyria must be always considered in the differential diagnosis. We remark that our patient did no presented urinary Porphobilinogen (PBG) and 5-Aminolevulinic Acid (ALA) alterations; this could be due to starting treatment with glucose solution a week before testing urine porphyrins. The suspicion was based mainly on clinical signs and anamnestic history; including recent treatment with claritromicin, confirming that porphyrias are a lot of times misdiagnosed diseases, mimicking many other acute medical and psychiatric conditions. A correct and early diagnosis is required to develop a management plan that is appropriate to the patient’s needs.
Hereditary coproporphyria; Acute attack; Skin lesions; Diplopia; Retro-orbital cellulitis
Graziadei G, Spinelli D, Granata F, Brancaleoni V, Di Pierro E. Unusual Presentation of Hereditary Coproporphyria: A Case Report. Neurol Disord Stroke Int. 2018; 1(2): 1010.