Grosso Salvatore, Mostadini Rosa, Cioni Maddalena, Galluzzi Paolo, Morgese Guido, Balestri Paolo
Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci - Le scotte, 53100 Siena, Italy.
J Neurol. 2002 May;249(5):596-600. doi: 10.1007/s004150200069.
Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset of PCH2 with polyhydramnios, apneic spells, myoclonus, and an akinetic/rigidity condition. Neuroradiologically, patient 2 showed extensive pancerebral degeneration. Based on these observations, and in accordance with the published cases, two groups of PCH2 patients may be defined: (a) patients with dyskinesia/dystonia, severe hypoplasia of the infratentorial structures and less severe involvement of the supratentorial brain; and (b) patients with polyhydramnios, neonatal onset with tremulousness (hyperekplexia), no spontaneous activity, absence of dyskinesia and pancerebral degeneration. Finally, we report a dramatic positive response of the patient with dyskinesia/dystonia to levodopa treatment, and discuss the associated physiopathological implications.
2型脑桥小脑发育不全（PCH2）是一种非常罕见的常染色体隐性疾病。我们报告了两例 unrelated 女性患者，她们为近亲结婚父母所生，患有这种疾病。患者1表现出PCH2典型的临床/神经放射学表型，伴有运动障碍/肌张力障碍。患者2在新生儿期发病，伴有羊水过多、呼吸暂停发作、肌阵挛和运动不能/强直状态。神经放射学检查显示，患者2有广泛的全脑变性。基于这些观察结果，并与已发表的病例一致，可以定义两组PCH2患者：（a）有运动障碍/肌张力障碍、幕下结构严重发育不全且幕上脑受累较轻的患者；（b）有羊水过多、新生儿期出现震颤（惊吓症）、无自主活动、无运动障碍和全脑变性的患者。最后，我们报告了运动障碍/肌张力障碍患者对左旋多巴治疗有显著的阳性反应，并讨论了相关的生理病理意义。
原文中“unrelated”翻译为“无血缘关系的”更合适，但按照要求未添加解释，直接保留了英文。
