The progress of adrenoleukodystrophy as revealed by auditory brainstem evoked responses and brainstem histology

Zusammenfassung

Ein sechs Jahre altes Kind erkrankte im 5. Lebensjahr an Adrenoleucodystrophie (progressive metabolische Erkrankung des ZNS mit rapider Degeneration). Die Krankheit begann mit Dysarthrie, Schwerhörigkeit und Gangunsicherheit. Später kam es zur spastischen Paralyse, zu hochgradiger Schwerhörigkeit und Erblindung. Tod durch Atemlähmung.

Während des Verlaufs wurden regelmäßig die Hirnstammpotentiale sowie die langsamen Rindenpotentiale abgeleitet. Dabei war mit fortschreitender Erkrankung eine deutliche Verminderung der Potentiale zu beobachten. Histologisch zeigten sich eine Entmyelinisierung des Hörnervs sowie Neuronenverluste im Verlauf der Hörbahn. Die Degeneration im Hirnstamm verlief dabei von rostral nach kaudal.

Summary

Serial studies of auditory brainstem evoked responses (ABR) and slow vertex responses (SVR) were obtained during the progress of adrenoleukodystrophy in a 6-year-old boy. This child was normal until 5 years of age. His illness began with a gait disturbance, dysarthria, and hearing difficulty. Later, spastic paralysis, serious deafness, and blindness appeared. He died of respiratory failure 2 years after the onset.

The ABR was normal at onset but changed to an abnormal pattern. Initially, there was lengthening of the wave V-I interpeak interval. This was followed by the disappearance of the later components as his general condition deteriorated. At the terminal stage, only a prolonged wave I was recordable. The postmortem pathology revealed demyelination of auditory nerves and remarkable neuronal loss in the auditory pathways of the brainstem; in addition, there was a variety of extensive degeneration throughout the cerebrum, in particular the complete degeneration of the white matter with secondarily occurring ganglionic cell changes. These data suggest that degeneration of the brainstem from rostral to caudal levels occurred.