Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response.

We studied the auditory brainstem response (ABR) and neuropathology in a female infant who died at six months of age because of typical infantile Gaucher's disease. The patient was hospitalized for hepatosplenomegaly and failure to thrive. Her ABR showed only waves I and II. The neuropathological study disclosed that: (1) Gaucher's cells were found in the perivascular region of the cerebrum and anterior ventral nucleus of the thalamus. (2) Gliosis was found in the dorsal part of the brainstem rather than the ventral part. (3) Neuronal cells in the superior olivary nucleus were lost, and marked gliosis was found in the cochlear nucleus. The disappearance of wave III and later waves of ABR could be supported by these pathological findings.