Pavone Piero, Praticò Andrea D, Vitaliti Giovanna, Ruggieri Martino, Rizzo Renata, Parano Enrico, Pavone Lorenzo, Pero Giuseppe, Falsaperla Raffaele
Unit of Pediatrics and Pediatric Emergency, University Hospital "Policlinico-Vittorio Emanuele", Catania, Italy.
Department of Formative Processes, University of Catania, Catania, Italy.
Ital J Pediatr. 2014 Oct 18;40:79. doi: 10.1186/s13052-014-0079-1.
The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months.Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed.
作者报告了关于积水性无脑畸形的广泛且最新的修订内容，包括文献综述，并介绍了一名患有这种疾病的患者的病例，该患者在36个月时仍然存活。积水性无脑畸形是一种孤立的、预后严重的异常情况，影响大脑皮质。在这种情况下，大脑半球完全或几乎完全缺失，由充满脑脊液的膜性囊所取代。中脑通常不受影响。积水性无脑畸形是一种相对罕见的脑部疾病。在考虑严重脑积水、脑穿通性囊肿和无脑叶全前脑畸形时，鉴别诊断主要具有相关性。还讨论了与手术治疗正确标准相关的伦理问题。
