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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
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Publication History

Publication Date:
19 March 2008 (online)

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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

Key words

Progressive encephalopathy - Myoclonic encephalopathy - X-linked hypogammaglobulinemia - Cerebral calcifications - A.I.D.S. in childhood