Dysequilibrium/ataxic diplegia with immunodeficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1929496.
- Also identified by PMC identifier 1793466.
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Abstract
A girl with purine nucleoside phosphorylase (PNP) deficiency is described. The nature of the motor disorder is similar to other children since found to have PNP deficiency. It is suggested that the diagnosis be considered in any child with unexplained dysequilibrium/ataxic diplegia. Other previously unreported features are intracytoplasmic neutrophil inclusion bodies and an improvement in the neutropenia after intravenous immunoglobulin.
Medical subject headings
- Neutropenia
- Psychomotor Disorders
- Purine-Nucleoside Phosphorylase