Toumi Khalil, Chafiq Kamal, Khayi Fatima Ezzahra, Daoudi Abdellatif
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Cureus. 2024 Dec 10;16(12):e75435. doi: 10.7759/cureus.75435. eCollection 2024 Dec.
Hydranencephaly (HE) is a severe and isolated malformation affecting the cerebral mantle. In this condition, the cerebral hemispheres are entirely or almost entirely absent, replaced by a membranous sac filled with cerebrospinal fluid, while the midbrain is usually preserved. Although HE is a relatively rare brain disorder, the differential diagnosis must include conditions such as severe hydrocephalus, porencephalic cysts, and alobar holoprosencephaly. This condition also raises ethical concerns, particularly regarding the criteria for surgical treatment. This case report, accompanied by a review of the literature, discusses the etiopathogenic and diagnostic aspects of HE, as well as its management, illustrated by the antenatal diagnosis of a newborn with HE, confirmed by brain MRI at four days of age.
积水性无脑畸形（HE）是一种影响大脑皮质的严重且孤立的畸形。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，而中脑通常得以保留。尽管HE是一种相对罕见的脑部疾病，但鉴别诊断必须包括严重脑积水、脑穿通性囊肿和无脑叶全前脑畸形等情况。这种疾病也引发了伦理问题，特别是关于手术治疗的标准。本病例报告并结合文献复习，讨论了HE的病因、诊断方面以及治疗方法，以一名产前诊断为HE的新生儿为例，其在出生四天时经脑部MRI证实。
