Francia A, Calandriello L, Restante R, Palladini G
Dipartimento di Scienze Neurologiche, Università degli Studi di Roma, La Sapienza, Italy.
Ital J Neurol Sci. 1996 Apr;17(2):169-73. doi: 10.1007/BF02000851.
The case of a 52-year-old man with an ataxicspastic syndrome associated with dystonia, faciobuccolingual dyskinesias and partial epileptic seizures is reported. Neurological imaging showed aspecific brain stem parenchymal alterations. Cerebellar biopsy revealed calcifications and the accumulation of perivascular acid mucopolysaccharides compatible with a diagnosis of "Calcinosis Nucleorum Cerebri", with the absence of any Ca/P metabolism disturbances or other diseases predisposing to calcium deposits showing it to be sporadic and idiopathic. We fell that this case description is interesting because of some of its particular aspects and that it may help in providing a better nosographic classification of these diseases.
报告了一例52岁男性患者，患有共济失调性痉挛综合征，伴有肌张力障碍、面颊舌运动障碍和部分癫痫发作。神经影像学检查显示脑干实质有非特异性改变。小脑活检发现钙化以及血管周围酸性粘多糖积聚，符合“脑核性钙化症”的诊断，且不存在任何钙/磷代谢紊乱或其他易导致钙沉积的疾病，表明其为散发性和特发性。我们认为该病例描述因其某些特殊方面而颇具趣味性，且可能有助于对这些疾病进行更好的疾病分类。
