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

Neuropediatrics. 1989 Nov;20(4):223-9. doi: 10.1055/s-2008-1071298.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acquired Immunodeficiency Syndrome / complications
  • Adolescent
  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / genetics
  • Agammaglobulinemia / physiopathology
  • Electroencephalography
  • Epilepsies, Myoclonic / complications*
  • Epilepsies, Myoclonic / genetics
  • Epilepsies, Myoclonic / physiopathology
  • Humans
  • Male
  • Sex Chromosome Aberrations*
  • X Chromosome*