Relato de caso: apresentação cliníca atípica da deficiência da esfingomielinase ácida em paciente pediátrico
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Introdução: A deficiência da enzima esfingomielinase ácida (ASMD), também conhecida como doença de Niemann-Pick A/B, é uma doença rara, causada por mutações recessivas no gene SMPD1 do cromossomo 11, acometendo tanto crianças como adultos. A ASMD
provoca o acúmulo de esfingomielina em vários tecidos do corpo, principalmente no sistema reticuloendotelial, sendo comum a presença de hepatoesplenomegalia e envolvimento do parênquima pulmonar em indivíduos portadores de ASMD tipo B. O objetivo deste relato é apresentar o caso de um adolescente portador de NP-B com fenótipo
mais atenuado da doença, enfatizando os desafios para o diagnóstico clínico e laboratorial de formas menos agressivas da doença. Relato de caso: Paciente masculino, três anos, foi encaminhado para avaliação de quadro de hepatoesplenomegalia e crises respiratórias frequentes. Apresentava aos exames de tomografia computadorizada do tórax sinais
de acometimento pulmonar. Paciente foi encaminhado para serviço de genética, sendo investigado para doenças de armazenamento lisossômico com dosagem de diversas enzimas. Discussão: Associação de hepatoesplenomegalia com acometimento pulmonar são achados típicos que devem levar à suspeita de ASMD tipo B, permitindo a identificação mais rápida dessa enfermidade ainda na infância. Dessa forma, com o diagnóstico e tratamento precoces, o paciente com ASMD tipo B terá uma melhora considerável em sua qualidade de vida e uma redução importante no risco de complicações cardiovasculares futuras.
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