Aspetti neuroradiologici della sindrome adreno-genitale

Translated title of the contribution: Neuroradiological features of adrenogenital syndrome

Maria Grazia Egitto, C. Uggetti, R. Bergamaschi, C. Livieri

Research output: Contribution to journalArticlepeer-review


We describe the results of a study on 21 patients with adrenogenital syndrome without neurological symptoms who underwent neurological examination, neurophysiological tests and MR scan. Only five patients (23.8%) had a negative neuroradiological examination, whereas 14 (66.3%) presented focal or diffuse white matter hyperintensity, ten (47.6%) had supratentorial cortical atrophy and seven (33.3%) inferior ectopia of the cerebellar tonsils. The frequency of white matter changes was not a chance finding and the lesions are speculated to be demyelinating. This hypothesis is interesting because the gene responsible for a deficit of the 21 beta-hydroxylase enzyme implicated in adrenogenital syndrome is near to the TNF gene implicated in the origin of multiple sclerosis. The possible causes of supratentorial atrophy and tonsillar ectopia are also discussed.

Translated title of the contributionNeuroradiological features of adrenogenital syndrome
Original languageItalian
Pages (from-to)435-437
Number of pages3
JournalRivista di Neuroradiologia
Issue number3
Publication statusPublished - Jun 2003

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology
  • Radiological and Ultrasound Technology


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