Dysequilibrium/ataxic diplegia with immunodeficiency.
Open Access
- 1 August 1991
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 66 (8) , 982-983
- https://doi.org/10.1136/adc.66.8.982
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.Keywords
This publication has 5 references indexed in Scilit:
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