Correia, J.Rios, M.Ferreira, P.Martins, E.Bandeira, A.2014-02-192014-02-192013-09Nascer e Crescer 2013; 22(3): 191-1920872-0754http://hdl.handle.net/10400.16/1574A 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.porCongenital fracturesintracerebral bleedingsparse kinky hairjournal article