Department of Veterinary Anatomy and Physiology, Egerton University, Egerton, Kenya.
Department of Veterinary Anatomy and Physiology, University of Nairobi, Nairobi, Kenya.
Vet Med Sci. 2020 Aug;6(3):454-461. doi: 10.1002/vms3.244. Epub 2020 Jan 23.
Holoprosencephaly is a forebrain deformity that results from varying degrees of separation failure of cerebral hemispheres. The condition is classified based on the degree of non-separation of the hemispheres which, in turn, determines its severity. Holoprosencephaly is usually accompanied by craniofacial defects whose severity tends to reflect the extent of brain deformities. In humans, holoprosencephaly is one of the commonest congenital brain anomalies but in animals, reported cases are scarce. The condition has multifactorial aetiology that involves interactions between several genetic and environmental factors.
A 4-day-old female Friesian calf with a deformed face was reported to the Faculty of veterinary medicine and surgery, Egerton University. The calf and the dam were sired by the same bull. On clinical and radiographic examination, the calf had a short snout that curved dorsally with bilateral cleft lip, right-sided cleft jaw and a largely absent primary palate. Anatomopathological examination revealed brain deformities which included ventral fusion of frontal lobes of cerebral hemispheres, large merged lateral ventricles without septum pellucidum and fornix, hypoplastic corpus callosum, high degree of non-separation between diencephalic structures, poorly developed hippocampal formation and hypoplastic olfactory lobe, optic chiasma, and nerve.
The case was confirmed as lobar holoprosencephaly based on characteristic anatomopathological findings. The aetiology of the defects in the present case could not be determined though they are thought to be either a result of recessive inheritance or exposure to teratogenic steroid alkaloids through materials fed to the dam during early pregnancy.
前脑无裂畸形是一种由于大脑半球不同程度的分离失败而导致的前脑畸形。该疾病根据半球未分离的程度进行分类,这反过来又决定了其严重程度。前脑无裂畸形通常伴有颅面缺陷,其严重程度往往反映了脑畸形的程度。在人类中,前脑无裂畸形是最常见的先天性脑畸形之一,但在动物中,报道的病例很少。这种情况的病因是多因素的,涉及几个遗传和环境因素的相互作用。
埃格顿大学兽医学院接到报告,称一头 4 天大的弗里西亚奶牛犊脸部畸形。这头小牛和它的母亲是由同一只公牛配种的。在临床和放射学检查中,小牛有一个短的鼻子,向背部弯曲,双侧唇裂,右侧颚裂,主要的上颚缺失。解剖病理学检查显示大脑畸形,包括大脑半球额叶的腹侧融合、没有透明隔和穹窿的大融合侧脑室、胼胝体发育不良、间脑结构之间的高度分离、海马结构和嗅球发育不良、视神经交叉和神经发育不良。
根据特征性的解剖病理学发现,该病例被确诊为叶状前脑无裂畸形。尽管认为这些缺陷是隐性遗传的结果,或者是由于在妊娠早期给母体喂食的材料中暴露于致畸性甾体生物碱,但目前病例的病因尚无法确定。