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.
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- Giblett E. R., Ammann A. J., Wara D. W., Sandman R., Diamond L. K. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet. 1975 May 3;1(7914):1010–1013. doi: 10.1016/s0140-6736(75)91950-9. [DOI] [PubMed] [Google Scholar]
- Graham-Pole J., Ferguson A., Gibson A. A., Stephenson J. B. Familial dysequilibrium-diplegia with T-lymphocyte deficiency. Arch Dis Child. 1975 Dec;50(12):927–932. doi: 10.1136/adc.50.12.927. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hagberg B., Hansson O., Lidén S., Nilsson K. Familial ataxic diplegia with deficient cellular immunity. A new clinical entity. Acta Paediatr Scand. 1970 Sep;59(5):545–550. doi: 10.1111/j.1651-2227.1970.tb16806.x. [DOI] [PubMed] [Google Scholar]
- Simmonds H. A., Fairbanks L. D., Morris G. S., Morgan G., Watson A. R., Timms P., Singh B. Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. Arch Dis Child. 1987 Apr;62(4):385–391. doi: 10.1136/adc.62.4.385. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Watson A. R., Evans D. I., Marsden H. B., Miller V., Rogers P. A. Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder. Arch Dis Child. 1981 Jul;56(7):563–565. doi: 10.1136/adc.56.7.563. [DOI] [PMC free article] [PubMed] [Google Scholar]