title: Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.
abstract: Pigmentary type of orthochromatic leukodystrophy (POLD) is an adult-onset leukodystrophy, characterized pathologically by the presence of glial and microglial cytoplasmic pigment inclusions. The complete phenotype, genotype and pathogenetic mechanisms in POLD have not been elucidated. We followed for 18 years a woman with autopsy-proven POLD, who presented with 'frontal' dementia and spasticity. Her further course was marked by progressive mutism, apraxia and seizures. Her sister had died of the same disease after a much more rapidly progressing course. These sisters had primary infertility with pathologic evidence of streak ovaries. Diagnosis was confirmed in both cases by post-mortem examination. POLD is a rare cause of adult-onset leukodystrophy presenting with dementia. Ovarian dysgenesis is extremely rare in the absence of demonstrable chromosomal abnormalities and extends the clinical spectrum of POLD.
authors.affiliation: Department of Neurology, Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA. jverghes@aecom.yu.edu
authors.forename: J
authors.initials: J
authors.lastname: Verghese
authors.forename: K
authors.initials: K
authors.lastname: Weidenheim
authors.forename: S
authors.initials: S
authors.lastname: Malik
authors.forename: I
authors.initials: I
authors.lastname: Rapin
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D003711:Demyelinating Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008854:Microscopy, Electron; D008875:Middle Aged; D004676:Myelin Basic Protein / Q000378:metabolism; D018991:Myelin Proteolipid Protein / Q000378:metabolism; D010053:Ovary / Q000002:abnormalities*; D010375:Pedigree
chemical_list: D004676:Myelin Basic Protein; D018991:Myelin Proteolipid Protein