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Genes, crianças e pediatras

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Resumo:A male newborn, presenting hipotonia and posterior parietal bossing, developed, in the first 12 hours of life, refusal to feed and hypoglycaemia. A cranial ultrasound, skull X-ray and CT scan revealed an occipital and parietal fracture with an underlying haematoma and extensive extracranial soft-tissue swelling. He was submitted to surgical drainage. After 24 hours: new intracerebral bleeding. At the age of two-months he presented abnormal skin and sparse kinky hair. Serum copper and caeruloplasmin levels were below the normal range. Molecular diagnosis of Menkes disease was made by the identification of a new mutation in ATP7A gene.
Autores principais:Correia,Joana
Outros Autores:Rios,Marta; Ferreira,Paula; Martins,Esmeralda; Bandeira,Anabela
Assunto:Congenital fractures intracerebral bleeding sparse kinky hair
Ano:2013
País:Portugal
Tipo de documento:outro
Tipo de acesso:acesso aberto
Instituição associada:Fundação para a Ciência e Tecnologia
Idioma:português
Origem:SciELO Portugal

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