Abstract

BANDEIRA, Anabela et al. Genes, crianças e pediatras. Nascer e Crescer [online]. 2011, vol.20, n.2, pp.101-103. ISSN 0872-0754.

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.

Keywords : congenital disorder of glycosilation; glycosylated transferring.

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