A new cholesterol biosynthesis and absorption disorder associated with epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration

Pediatr Neurol. 2014 Jun;50(6):601-4. doi: 10.1016/j.pediatrneurol.2014.01.050. Epub 2014 Feb 10.


Background: Cholesterol is one of the main components of human cell membranes and constitutes an essential substance in the central nervous system, endocrine system, and its hormones, including sex hormones.

Patient: A 19-year-old male patient presented with failure to thrive, psychomotor deterioration, intractable epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration. His serum level of cholesterol was low, ranging from 78.7 to 116.5 mg/dL.

Results: The serum concentrations of intermediates in the cholesterol biosynthesis pathway, such as 7-dehydrocholesterol, 8-dehydrocholesterol, desmosterol, lathosterol, and dihydrolanosterol, were not increased. In addition, the levels of the urinary cholesterol biosynthesis marker mevalonic acid, the serum cholesterol absorption markers, campesterol and sitosterol, and the serum cholesterol catabolism marker, 7α-hydroxycholesterol, were all low.

Conclusions: A serum biomarker analysis indicated that the patient's basic abnormality differed from that of Smith-Lemli-Opitz syndrome and other known disorders of cholesterol metabolism. Therefore, this individual may have a new metabolic disorder with hypocholesterolemia because of decreased biosynthesis and absorption of cholesterol.

Keywords: cerebro-cerebellar-bulbar degeneration; cholesterol metabolism; dysmyelination; hypocholesterolemia (Oita); hypogonadism; intractable epilepsy.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / blood
  • Blood Chemical Analysis
  • Brain / growth & development
  • Brain / pathology
  • Cerebellar Diseases / blood*
  • Cerebellar Diseases / pathology
  • Cholesterol / biosynthesis
  • Cholesterol / blood*
  • Cholesterol / metabolism
  • Epilepsy / blood*
  • Epilepsy / pathology
  • Humans
  • Hypogonadism / blood*
  • Hypogonadism / pathology
  • Lipid Metabolism, Inborn Errors / blood*
  • Lipid Metabolism, Inborn Errors / pathology
  • Magnetic Resonance Imaging
  • Male
  • Neurodegenerative Diseases / blood*
  • Neurodegenerative Diseases / pathology
  • Young Adult


  • Biomarkers
  • Cholesterol