Familial psychosis and diverse neurologic abnormalities in adult-onset Gaucher's disease
J. F. Neil, R. H. Glew and S. P. Peters
A family is described in which adult-onset Gaucher's disease developed,
followed years later by atypical psychotic disorders with neurologic and
electroencephalographic abnormalities. A biochemical investigation of
primary and secondary enzyme alterations in the index case was performed in
an attempt to identify a pattern that might be specific to this clinical
profile. The literature pertaining to CNS involvement in adult patients
with Gaucher's disease is also reviewed. An etiologic link may exist
between the inherited metabolic disorder and associated neuropsychiatric
impairment. The biochemical basis of this hypothesized association remains
unclear, however, and further enzymatic and pathologic investigations are
warranted.
