Genes, Children and Pediatricians
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v22.i3.10671Keywords:
Congenital fractures, intracerebral bleeding, sparse kinky hairAbstract
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.
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References
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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.
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