Genes, crianças e pediatras: Doença de Menkes

• Author(s): Correia, J. ; Rios, M. ; Ferreira, P. ; Martins, E. ; Bandeira, A.
• Date: 2013
• Persistent ID: http://hdl.handle.net/10400.16/1574
• Origin: Repositório Científico do Centro Hospitalar do Porto
• Subject(s): Congenital fractures; intracerebral bleeding; sparse kinky hair
• Document Type: Article
• Language: Portuguese

Description

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.