Genes, Children and Pediatricians

  • Joana Correia Pediatric Department of CH Porto
  • Marta Rios Pediatric Intensive Care Department of CH Porto
  • Paula Ferreira Pediatric Intensive Care Department of CH Porto
  • Esmeralda Martins Metabolic Diseases Unit of Pediatric Department of CH Porto
  • Anabela Bandeira Metabolic Diseases Unit of Pediatric Department of CH Porto
Keywords: Congenital fractures, intracerebral bleeding, sparse kinky hair

Abstract

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.

References

Tümer Z, Moller LB. Menkes disease. Eur JHum Genet 2010,

:511 -8.

Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC,

Donsante A, et al. Neonatal diagnosis and treatment of

Menkes disease. N Eng J Med 2008: 358;605 -14.

Published
2017-01-16
Section
Genes, Children and Paediatricians