Introduction

  • Rare autosomal recessive lipid storage disease.
  • Abnormal cholestanol accumulation in the nervous system and other organ systems.
  • Clinical manifestations: Brain, tendons, eyes, arteries.
  • Spectrum of presentations: Infantile diarrhea, cataracts, tendon xanthomas, progressive neurologic impairments.
  • Neurologic manifestations: Ataxia, dystonia, epilepsy, dementia, etc.
  • Diagnostic delay: Median of 16 years.
  • Early intervention with chenodeoxycholic acid (CDCA) critical for prognosis.
To read more, a subscription is needed: Click here to subscribe