Verghese J, Weidenheim K, Malik S, Rapin I
Department of Neurology, Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Eur J Neurol. 2002 Nov;9(6):663-70. doi: 10.1046/j.1468-1331.2002.00469.x.
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.
色素型正染性脑白质营养不良（POLD）是一种成人起病的脑白质营养不良，病理特征为神经胶质细胞和小胶质细胞胞质内有色素包涵体。POLD的完整表型、基因型和发病机制尚未阐明。我们对一名经尸检证实患有POLD的女性进行了18年的随访，她表现为“额叶”痴呆和痉挛。她的病情进一步发展为进行性缄默、失用症和癫痫发作。她的姐姐在病程进展快得多之后死于同一种疾病。这对姐妹原发性不孕，病理检查有条索状卵巢的证据。两例均经尸检确诊。POLD是成人起病的脑白质营养不良伴痴呆的罕见病因。在无明显染色体异常的情况下，卵巢发育不全极为罕见，这扩展了POLD的临床谱。
