Lowe syndrome: clinical and neuropathological studies of an adult case

J Ment Defic Res. 1990 Dec:34 ( Pt 6):491-500. doi: 10.1111/j.1365-2788.1990.tb01561.x.

Abstract

A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis. There was also severe epileptic activity (Lennox-Gastaut syndrome). The neuropathological examination revealed a marked cerebellar atrophy and central chromatolysis in the cerebral cortex. These observations do not confirm the hypothesis of dysmyelination as formulated in previous studies. The reported case rather suggests the existence of a dynamic process starting as a still-undefined metabolic abnormality that, in turn, causes various and inconsistent lesions at the microscopic level.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrophy
  • Brain / pathology*
  • Cerebellum / pathology
  • Cerebral Cortex / pathology
  • Humans
  • Male
  • Neurologic Examination
  • Neurons / pathology
  • Oculocerebrorenal Syndrome / diagnosis*
  • Oculocerebrorenal Syndrome / genetics
  • Oculocerebrorenal Syndrome / pathology