Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy

Pediatr Neurol. 2019 Jan:90:70-71. doi: 10.1016/j.pediatrneurol.2018.09.001. Epub 2018 Sep 21.
No abstract available

Keywords: D-bifunctional protein deficiency; Female; HSD14B4 gene; Peroxisomal disease; X-linked adrenoleukodystrophy.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adrenoleukodystrophy / diagnostic imaging*
  • Brain / diagnostic imaging*
  • Child
  • Deficiency Diseases / diagnostic imaging*
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Peroxisomal Multifunctional Protein-2 / deficiency*
  • White Matter / diagnostic imaging*

Substances

  • Peroxisomal Multifunctional Protein-2
  • HSD17B4 protein, human