Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia

Neurosciences (Riyadh). 2020 Jan;25(1):65-69. doi: 10.17712/nsj.2020.1.20190103.

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are the most common group of neurodegenerative diseases that presents in childhood and are characterized by seizures and progressive neurological deterioration, which results in dementia, ataxia, visual failure, and various forms of abnormal movement. The most common form of neuronal ceroid lipofuscinoses is late infantile (LI-NCL), in association with the genes CLN2, CLN5, CLN6, and CLN8. We report the cases of neuronal ceroid lipofuscinoses type 8 in 3 patients from 2 unrelated families, which was confirmed by molecular testing in 2 of them. Multiple spontaneous abortions, early death, and early onset of motor disability were observed in our cases, reflecting a possible association of NCL 8 with other unrecognized neurodegenerative diseases. Our results expand the genotypic/phenotypic background of variant late Infantile-NCL in Arabic ethnicity.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Fatal Outcome
  • Female
  • Genotype*
  • Humans
  • Male
  • Neuronal Ceroid-Lipofuscinoses / diagnostic imaging*
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Neuronal Ceroid-Lipofuscinoses / therapy
  • Pedigree
  • Phenotype*
  • Saudi Arabia / ethnology

Supplementary concepts

  • Ceroid lipofuscinosis, neuronal 8