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 |
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Authors: | V Colamaria P Marradi A Boner F Pajno-Ferrara C Procacci G Cesaro L La Selva G Capovilla E Fontana B Dalla Bernardina |
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Affiliation: | Clinica Pediatrica dell'Università, Policlinico Borgo Roma, Verona, Italy. |
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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. |
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