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Clin Pediatr Endocrinol. 2013 Oct;22(4):77-81. doi: 10.1292/cpe.22.77. Epub 2013 Oct 26.

Brain white matter abnormality in a newborn infant with congenital adrenal hyperplasia.

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Department of Pediatrics, Tohoku University Hospital, Sendai, Japan.


Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 11 after birth, he had a generalized tonic seizure. No evidence of serum electrolyte abnormalities was observed. Brain MRI revealed white matter abnormalities that consisted of bilateral small diffuse hyperintensities on T1-weighted images with slightly low intensity on T2-weighted images in the watershed area. Several factors associated with brain white matter abnormalities in adults with CAH, such as increasing age, hypertension, diabetes and corticosteroid replacement, were not applicable. Although the cause of the phenomenon in this case is unclear, brain white matter abnormality could be observed in newborn infants with CAH as well as in adult patients.


aldosterone; brain white matter; congenital adrenal hyperplasia; magnetic resonance imaging; newborn infant

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