Neuropediatrics 1989; 20(4): 223-229
DOI: 10.1055/s-2008-1071298
Case report

© Georg Thieme Verlag KG Stuttgart · New York

Progressive Myoclonic Encephalopathy in X-Linked Hypogamma-Globulinemia

Case Report, Review of the Literature and Its Relationship with Progressive Encephalopathy in Children with A.I.D.S.V.  Colamaria1 , P.  Marradi1 , A.  Boner1 , F.  Pajno-Ferrara1 , C.  Procacci2 , G.  Cesaro2 , L.  La Selva3 , G.  Capovilla3 , E.  Fontana3 , B.  Dalla Bernardina3
  • 1Clinica Pediatrica dell'Università, Policlinico Borgo Roma, I-37134 Verona, Italy
  • 2Istituto di Radiologia dell'Università di Verona, Policlinico di Borgo Roma, I-37134 Verona, Italy
  • 3Cattedra di Neuropsichiatria Infantile dell'Università di Verona, Policlinico Borgo Roma, I-37134 Verona, Italy
Further Information

Publication History

Publication Date:
19 March 2008 (online)

Abstract

A 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks.

The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudoperiodic, high amplitude slow waves, myoclonic jerks polygraphically documented. The CT-scan shows generalized cerebral atrophy, white matter hypodensity - principally in the frontal regions -, multiple nodular calcifications, also in the basal ganglia.

Two years after the onset of neurological signs, the boy is completely bedridden, spastic, dement and blind; the myoclonic jerks persist.

Finally the relationship is discussed with both the previously reported patients with the same affection, and with similar progressive encephalopathy in children suffering from A.I.D.S