Progressive Myoclonic Encephalopathy in X-Linked Hypogamma-Globulinemia

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