Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency

J Child Neurol. 2003 Feb;18(2):140-1. doi: 10.1177/08830738030180021001.

Abstract

We report two siblings with purine nucleoside phosphorylase deficiency revealed by isolated spastic paraplegia, whereas symptoms of immune deficiency did not become apparent until 3 years of age. As the concurrence of immunodeficiency and neurologic problems strongly suggests the diagnosis of purine nucleoside phosphorylase deficiency, special attention should be paid to counts of lymphocytes in any infant with spastic paraplegia.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Cortex / pathology
  • Child, Preschool
  • Female
  • Humans
  • Lymphocyte Count
  • Magnetic Resonance Imaging
  • Purine-Nucleoside Phosphorylase / deficiency*
  • Purine-Nucleoside Phosphorylase / genetics
  • Siblings
  • Spastic Paraplegia, Hereditary / etiology*
  • Spastic Paraplegia, Hereditary / immunology
  • Spastic Paraplegia, Hereditary / pathology

Substances

  • Purine-Nucleoside Phosphorylase