title: 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.
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.
authors.affiliation: Clinica Pediatrica dell'Università, Policlinico Borgo Roma, Verona, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Colamaria
authors.forename: P
authors.initials: P
authors.lastname: Marradi
authors.forename: A
authors.initials: A
authors.lastname: Boner
authors.forename: F
authors.initials: F
authors.lastname: Pajno-Ferrara
authors.forename: C
authors.initials: C
authors.lastname: Procacci
authors.forename: G
authors.initials: G
authors.lastname: Cesaro
authors.forename: L
authors.initials: L
authors.lastname: La Selva
authors.forename: G
authors.initials: G
authors.lastname: Capovilla
authors.forename: E
authors.initials: E
authors.lastname: Fontana
authors.forename: B
authors.initials: B
authors.lastname: Dalla Bernardina
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000150:complications; D000293:Adolescent; D000361:Agammaglobulinemia / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D014960:X Chromosome