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Journal of Child Neurology
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Familial Spastic Paraplegia as the Presenting Manifestation in Patients With Purine Nucleoside Phosphorylase Deficiency

Brahim Tabarki, MD

Service de Pédiatrie Hôpital Farhat Hached, brahim.mlaiki{at}rns.tn.

Moncef Yacoub, MD

Service de Pédiatrie Hôpital Farhat Hached

Kalthoum Tlili, MD

Service de Radiologie Hôpital Sahloul

Anouar Trabelsi, MD

Service de Neurophysiologie Hôpital Sahloul

Mohamed Dogui, MD

Service de Neurophysiologie Hôpital Sahloul

Ahmed S. Essoussi, MD

Service de Pédiatrie Hôpital Farhat Hached Sousse, Tunisia

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. (J Child Neurol 2003;18:140—141).

Journal of Child Neurology, Vol. 18, No. 2, 140-141 (2003)
DOI: 10.1177/08830738030180021001
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Home page
 J Child NeurolHome page
F. Ozkinay, S. Pehlivan, H. Onay, P. van den Berg, F. Vardar, G. Koturoglu, G. Aksu, D. Unal, H. Tekgul, S. Can, et al.
Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections
J Child Neurol, June 1, 2007; 22(6): 741 - 743.
[Abstract] [PDF]