Abstract

CORREIA, Joana et al. Genes, crianças e pediatras. Nascer e Crescer [online]. 2013, vol.22, n.3, pp.191-192. ISSN 0872-0754.

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.

Keywords : Congenital fractures; intracerebral bleeding; sparse kinky hair.

        · text in Portuguese     · Portuguese ( pdf )