Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency.
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.
Tabarki
Brahim
B
Service de Pédiatrie, Hôpital Farhat Hached, Sousse, Tunisia. brahim.mlaiki@rns.tn
Yacoub
Moncef
M
Tlili
Kalthoum
K
Trabelsi
Anouar
A
Dogui
Mohamed
M
Essoussi
Ahmed S
AS
D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D018655:Lymphocyte Count; D008279:Magnetic Resonance Imaging; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000209:etiology* / Q000276:immunology / Q000473:pathology
D011683:Purine-Nucleoside Phosphorylase