Genes, crianças e pediatras: defeito congénito da glicosilação

Bandeira, A.; Mota, C.; Quelhas, D.; Loureiro, M.; Martins, E.

http://hdl.handle.net/10400.16/1055

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Abstract(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.