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Genes, crianças e pediatras: defeito congénito da glicosilação
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Orientador(es)
Resumo(s)
A 14 month-old boy presented with failure to thrive and severe
mental and motor development delay. On physical examination
he presented with severe axial hypotonia and dysmorphic
syndrome: peculiar facies with small eyes, micrognathia, raised
intermamilar distance. He also had multissistemic involvement
with nephritic proteinuria, hypertrophy cardiomiopathy with pericardial
effusion, raised transaminases, functional deficit of coagulation
proteins and unspecific changes of retinal pigmentation.
This case illustrates the typical presentation of congenital disorder
of glycosilation (CDG) type Ia.
Descrição
Palavras-chave
congenital disorder of glycosilation glycosylated transferring
Contexto Educativo
Citação
Nascer e Crescer 2011; 20(2): 101-103