Soffer D
Acta Neuropathol. 1985;65(3-4):322-9. doi: 10.1007/BF00687016.
A case of neuronal intranuclear hyaline inclusion disease (NIHID) is described, and the literature on seven reported cases is briefly reviewed. The patient was a 24-year-old man who died of a chronic progressive neurologic disease starting at the age of 6 years. Clinically, the disease presented as Friedreichs's ataxia, and pathologically it was characterized by multisystem atrophy. An outstanding feature was the presence of widespread intranuclear hyaline inclusions in neurons of the brain, spinal cord, and myenteric plexus of the gut. The inclusions displayed yellow-green autofluorescence under ultraviolet (UV) light and were filamentous ultrastructurally. It seems that cases bearing such peculiar neuronal inclusions represent a distinct disease entity of unknown origin. The disease, which is sometimes familial, usually starts in childhood and affects both sexes. Clinically, it presents as multisystem degeneration with progressive ataxia as the prominent feature. Pathologically, it is characterized by neuronal loss, fiber tract atrophy, and intranuclear neuronal inclusions. In some cases such inclusions were found also in neurons of the myenteric plexus. Since these are accessible to biopsy it is recommended that rectal biopsy be made in every case of "atypical" system atrophy.
本文描述了一例神经元核内透明包涵体病（NIHID），并简要回顾了有关七例已报道病例的文献。患者为一名24岁男性，死于始于6岁的慢性进行性神经系统疾病。临床上，该疾病表现为弗里德赖希共济失调，病理上其特征为多系统萎缩。一个突出特征是在脑、脊髓和肠道肌间神经丛的神经元中存在广泛的核内透明包涵体。这些包涵体在紫外光下呈现黄绿色自发荧光，超微结构上呈丝状。似乎具有这种特殊神经元包涵体的病例代表了一种起源不明的独特疾病实体。该疾病有时具有家族性，通常始于儿童期，男女均可受累。临床上，它表现为多系统退化，以进行性共济失调为突出特征。病理上，其特征为神经元丢失、纤维束萎缩和核内神经元包涵体。在某些病例中，肌间神经丛的神经元中也发现了此类包涵体。由于这些部位可进行活检，建议对每例“非典型”系统萎缩病例进行直肠活检。
