title: Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency.
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.
authors.affiliation: Service de Pédiatrie, Hôpital Farhat Hached, Sousse, Tunisia. brahim.mlaiki@rns.tn
authors.forename: Brahim
authors.initials: B
authors.lastname: Tabarki
authors.forename: Moncef
authors.initials: M
authors.lastname: Yacoub
authors.forename: Kalthoum
authors.initials: K
authors.lastname: Tlili
authors.forename: Anouar
authors.initials: A
authors.lastname: Trabelsi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Dogui
authors.forename: Ahmed S
authors.initials: AS
authors.lastname: Essoussi
mesh_terms: 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
chemical_list: D011683:Purine-Nucleoside Phosphorylase