Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings

Acta Radiol. 2020 Oct;61(10):1377-1387. doi: 10.1177/0284185120901510. Epub 2020 Jan 30.


Background: Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive genodermatosis, characterized by congenital defects of ectodermal derivative structures as the central nervous system (CNS) is primarily ectodermal in origin.

Purpose: To evaluate CNS variations and abnormalities in AED.

Material and methods: A retrospective analysis was made of the neurological and neuroimaging findings of 17 children (12 boys, 5 girls; median age = 8 years; age range = 2-14 years) diagnosed with AED in our pediatric clinics during 2008-2016. The pattern of CNS variation and abnormalities were evaluated by comparing of these findings with an age- and gender-matched healthy control group with no family history.

Results: Of the 17 AED cases identified on the basis of neuroimaging findings, 6 (35.3%) were seen to be normal. Associated CNS variation and abnormalities including cavum septum pellucidum (35.3%), callosal dysgenesis (11.8%), prominent Virchow-Robin spaces (64.7%), cortical sulcal dilation (41.1%), mega cisterna magna (35.3%), focal cortical dysplasia (11.8%), and delayed myelination (58.8%) were observed in 11 (64.7%) children with AED.

Conclusion: AED suggests a spectrum of CNS variation and abnormalities, presenting with neurological and neuroimaging findings, demonstrated in the embryonic surface- and neuro-ectoderm derived structures. The results of this study suggest that CNS variation and abnormalities might be associated with AED.

Keywords: Anhidrotic ectodermal dysplasia; central nervous system; magnetic resonance neuroimaging; variation and abnormality.

MeSH terms

  • Adolescent
  • Central Nervous System Diseases / diagnostic imaging*
  • Child
  • Child, Preschool
  • Ectodermal Dysplasia / diagnostic imaging*
  • Female
  • Humans
  • Infant
  • Male
  • Neuroimaging / methods*
  • Retrospective Studies