Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia

A 26-year-old Japanese woman slowly developed a change of character such as hypospontaneity and blunted affect, followed by obvious mental deteriorati on. She was diagnosed as having a disorganized type of schizophrenia at the first examination. Brain magnetic resonance imaging demonstrated diffuse h igh intensity in the cerebral white matter, particularly in the frontal lob es. The single photon emission computed tomography images using I-123-IMP d isclosed diffuse cerebral hypofusion, especially in the frontal lobes. Elec troencephalogram showed a moderate amount of 5-6 Hz theta waves on the back ground of a activity. Nerve conduction velocities in the extremities were d elayed. The level of leucocyte arylsulphatase was low. In the arylsulphatas e A gene analysis, a compound heterozygote having the (99)Gly-->Asp and (40 9)Thr-->Ile mutations was confirmed. The patient was diagnosed as having me tachromatic leukodystrophy. She gradually showed obvious dementing symptoms such as memory disturbance and disorientation. The characteristics of the psychiatric symptoms in the leukodystrophy are discussed.