Miyazu K, Kobayashi K, Fukutani Y, Nakamura I, Hasegawa H, Yamaguchi N, Saitoh T
Department of Neuropsychiatry, Kanazawa University School of Medicine, Japan.
Acta Neuropathol. 1991;82(5):414-9. doi: 10.1007/BF00296554.
An autopsied case of membranous lipodystrophy (Nasu-Hakola disease, NHD) with thalamic degeneration was reported. A 34-year-old Japanese man was diagnosed as having NHD by bone biopsy prior to the onset of clinical symptoms. His maternal grandfather and paternal grandmother are cousins, but this family history is negative for NHD. He developed frontal lobe syndrome at the age of 35 with progressive dementia, and died of acute renal failure at the age of 46. Gross inspection of the brain detected atrophy and softening of the cerebral white matter, predominantly in the frontal lobe. Microscopically, numerous spheroids, predominant fibrillary gliosis with less prominent demyelination "dissociation glio-myélinique" and scanty sudanophilic lipid droplets were observed, indicating the sclerosing type of NHD. An unusual patholgoical finding in this case was selective involvement of the thalamic nuclei with preservation of the other gray matter except for focal cortical necrosis. The topography of the affected thalamic nuclei is similar to that of systemic thalamus degeneration. An association with thalamic degeneration in NHD has not been previously reported. The present case suggests that NHD also affects the thalamus.
报告了一例伴有丘脑变性的膜性脂肪营养不良（那须 - 哈科拉病，NHD）尸检病例。一名34岁的日本男性在临床症状出现之前通过骨活检被诊断为患有NHD。他的外祖父和外祖母是表亲，但该家族史中NHD呈阴性。他在35岁时出现额叶综合征并伴有进行性痴呆，46岁时死于急性肾衰竭。对大脑进行大体检查发现脑白质萎缩和软化，主要位于额叶。显微镜下，观察到大量球形体、以纤维性胶质增生为主且脱髓鞘不明显的“解离性胶质 - 髓鞘病变”以及少量嗜苏丹脂质滴，提示为硬化型NHD。该病例一个不寻常的病理发现是丘脑核选择性受累，除局灶性皮质坏死外其他灰质得以保留。受累丘脑核的部位与全身性丘脑变性相似。此前尚未报道NHD与丘脑变性有关联。本病例提示NHD也会影响丘脑。
