Erythropoietic protoporphyria. Description of the first case identified in Mexico
Sánchez-Anzaldo, F.J.; Ruiz-Argüelles, G.J.; Ortiz López, R.
Sangre 32(2): 236-242
1987
ISSN/ISBN: 0036-4355 PMID: 3616884 Document Number: 297538
The case of a 16-year old boy suffering erythropoietic protoporphyria is described. This is the first case of such a porphyria identified in Mexico. The patient had an 8-year evolution of symptoms, mostly painful liver, muscular weakness, mild skin photosensitivity and neuropsychiatric disorders. At least in three instances, increased level of free erythrocyte protoporphrins as well as fecal porphyrins were recorded. Inasmuch as around 80 cses of porphyria have been identified in the city of Puebla, Mexico, with a population of 1,5 million inhabitants, it is concluded that these diseases must be borne in mind by physicians when making the differential diagnosis of patients with proteiform symtpoms. The patient has been treated with chloropromazine, i.v. glucose hypertonic solutions, cholestiramine and, in two instances, hematin intravenous infusions, that have resulted in improvement of the symtoms. Recently, he has been given intranasal busereline acetate spray, with good results.