Meryem Benmoussa, Amine Naggar, Houssein Oukili, Siham El Haddad, Nazik Allali, Latifa Chat
Mohammed V University, Rabat, Morocco.
Glob Pediatr Health. 2023 Feb 17;10:2333794X231156037. doi: 10.1177/2333794X231156037. eCollection 2023.
Holoprosencephaly (HPE) is a rare birth defect that occurs during the first few weeks of pregnancy. It results from a disturbance in the usual signaling pathways required for separation of the embryonic prosencephalon into 2 separate cerebral hemispheres. Classically four subtypes have been recognized: alobar, semilobar, lobar, and middle interhemispheric holoprosencephaly. The cause of HPE is unknown but may include genetic disorders. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip. We report 2 cases of semilobar holoprosencephaly, diagnosed in Children's Hospital of Rabat: the first one was a fetus diagnosed by ultrasonogram at 25 weeks of gestation. The second one was a newborn at 15 days of life diagnosed by brain scan.
前脑无裂畸形（HPE）是一种罕见的出生缺陷，发生在怀孕的最初几周。它是由于胚胎前脑分离为两个独立的大脑半球所需的正常信号通路受到干扰所致。传统上已识别出四种亚型：无脑叶型、半脑叶型、脑叶型和中间脑叶间型前脑无裂畸形。HPE的病因尚不清楚，但可能包括遗传疾病。在大多数前脑无裂畸形病例中，畸形非常严重，婴儿在出生前就死亡了。在不太严重的情况下，婴儿出生时大脑发育正常或接近正常，但面部畸形可能会影响眼睛、鼻子和上唇。我们报告了在拉巴特儿童医院诊断出的2例半脑叶型前脑无裂畸形病例：第一例是一名在妊娠25周时通过超声检查诊断出的胎儿。第二例是一名出生15天的新生儿，通过脑部扫描诊断出。
