ABSTRACT
ABSTRACT A male infant presented with progressive jaundice immediately after birth. Fecal acholia and choluria associated with extensive bullous skin lesions in his trunk, abdomen, and upper and lower limbs developed during phototherapy. Several diagnostic hypotheses were presented, including neonatal porphyria, hemochromatosis, Alagille syndrome, and neonatal lupus. A 24-hour urine sample for the dosage of urinary porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of life, fluorescence spectroscopy using a Wood's lamp revealed simultaneous bright red fluorescence of urine-stained diapers and sample blood. A definitive diagnosis of congenital erythropoietic porphyria was made following identification of a mutation of the uroporphyrinogen synthetases III gene on genetic testing. The patient was subsequently maintained in a low light environment since then, resulting in improvement of the lesions. Congenital erythropoietic porphyria is a disease of the group of porphyrias that presents shortly after birth with blistering occurring in regions exposed to the sun or other ultraviolet light. Atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth may also be observed. There is no specific treatment, and prophylaxis comprising a total avoidance of sunlight is generally recommended. A high degree of suspicion is required for diagnosis. An early diagnosis can lead to less damage. Here, we present the case of a newborn with congenital erythropoietic porphyria diagnosed after presenting with bullous lesions secondary to phototherapy.
ABSTRACT
O objetivo deste trabalho foi descrever o perfil clínico e sociodemográfico dos casos de intoxicação aguda registrados pelo Centro de Assistência Toxicológica da Paraíba (Ceatox-PB) em 2012. O estudo foi transversal e retrospectivo, pautado na análise documental de dados secundários obtidos no Ceatox (PB). No ano de 2012, foram atendidos 208 casos de intoxicações exógenas no Ceatox-PB. A idade dos pacientes variou de 1 a 77 anos (17,3± 18), com faixa etária mais prevalente inferior a 18 anos (58,2%), e 52,8% do sexo feminino. O principal tipo de intoxicação foi acidente individual (47,6%), e no grupo entre 20-40 anos os casos relacionaram-se a tentativas de suicídio e acidentes individuais. As tentativas de suicídio foram mais frequentes no sexo feminino (60,8%). Os casos ocorreram no ambiente domiciliar (80%) e as causas mais frequentes foram medicamentos (24,6%) e via de intoxicação oral (83,2%). O padrão epidemiológico das intoxicações exógenas notificadas pelo Ceatox-PB, em 2012, foi similar ao relatado em outros estudos, em que jovens e mulheres foram os grupos de maior risco e medicamentos ingeridos de forma acidental, os principais causadores.
Clinical and socio-demographic profile of acute intoxication cases reported at the Toxicological Care Center of Paraíba (Ceatox-PB), Brazil, in 2012, is described by a transversal and retrospective study based on the documental analysis of secondary data retrieved from Ceatox-PB. In 2012, 208 cases of exogenous intoxications were treated at Ceatox-PB. Patients ranged between 1 and 77 years (17,3±18), with prevalent age bracket lower than 18 years (58,2%); 52,8% were female. Main intoxication was accidental (47,6%), and in groups aged 20 - 40 years related to suicide attempts and individual accidents. Attempts at suicide were more frequent in females (60,8%). Cases occurred at home (80%) and medicines taken orally (83,2%) were the most frequent cause (24,6%). Epidemiological pattern of exogenous intoxications at Ceatox-PB in 2012 was similar to that in other studies where young people and females constituted the highest risk group, with main agent as accidentally-taken medicines.