Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.

摘要: Pigmentary type of orthochromatic leukodystrophy (POLD) is an adult-onset leukodystrophy, characterized pathologically by the presence glial and microglial cytoplasmic pigment inclusions. The complete phenotype, genotype pathogenetic mechanisms in POLD have not been elucidated. We followed for 18 years a woman with autopsy-proven POLD, who presented 'frontal' dementia spasticity. Her further course was marked progressive mutism, apraxia seizures. sister had died same disease after much more rapidly progressing course. These sisters primary infertility pathologic evidence streak ovaries. Diagnosis confirmed both cases post-mortem examination. rare cause presenting dementia. Ovarian dysgenesis extremely absence demonstrable chromosomal abnormalities extends clinical spectrum POLD.