A carregar...
Publicação
Genes, crianças e pediatras: Doença de Menkes
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 157.28 KB | Adobe PDF |
Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Congenital fractures intracerebral bleeding sparse kinky hair
Contexto Educativo
Citação
Nascer e Crescer 2013; 22(3): 191-192