Okeda R, Tanaka M, Kawahara Y, Tokushige J, Imai T, Kameya K
Department of Pathology, Tokyo Medical and Dental University, Japan.
Acta Neuropathol. 1989;78(1):96-100. doi: 10.1007/BF00687408.
An autopsy case of adult-type citrullinemia in a 42-year-old male is reported. The patient neuropathologically presented mixed cerebral changes consisting of the pseudoulegyric and ischemic types of hepatocerebral disease. In common with previously reported cases of the pseudoulegyric type, the nature and localization of the cerebral changes in this case were characteristic, in that neuronal loss occurred most severely and symmetrically in the mediobasal part of the frontal and occipital lobes, gyrus cinguli, claustrum, insula and temporal lobe, and that the watershed area of the cerebral cortex, basal ganglia and Purkinje cells were only slightly affected. The importance of hypercitrullinemia was stressed in the pathogenesis of the cerebral changes evident in adult-type citrullinemia.
报告了一例42岁男性成人型瓜氨酸血症的尸检病例。该患者神经病理学表现为混合性脑改变，包括假层状坏死型和缺血型肝性脑病。与先前报道的假层状坏死型病例相同，该病例脑改变的性质和定位具有特征性，即额叶和枕叶的中基底部、扣带回、屏状核、岛叶和颞叶的神经元丢失最为严重且对称，而大脑皮质、基底神经节和浦肯野细胞的分水岭区仅轻微受累。高瓜氨酸血症在成人型瓜氨酸血症明显的脑改变发病机制中的重要性得到了强调。
