Angmorterh Seth Kwadjo, Kekessie Kafui Kossi, Venter Riaan van de, Amoussou-Gohoungo Mariella Mawunyo, Inusah Adam, Alidu Huseini, Angmorterh Portia Mamle, Yarfi Cosmos, Aboagye Sonia, Agbewoavi Christian Kwaku, Opoku-Gyamfi Daniel, Gbodzi Rhoda, Rahaman Abdul-Latif Abdul, Dzefi-Tettey Klenam
Department of Medical Imaging, School of Allied Health Sciences, University of Health and Allied Sciences (UHAS), Ho, Ghana.
Radiology Department, Ho Teaching Hospital, Ho, Volta Region, Ho, Ghana.
Radiol Case Rep. 2025 Jun 21;20(9):4504-4509. doi: 10.1016/j.radcr.2025.05.111. eCollection 2025 Sep.
Schizencephaly is a rare congenital central nervous system (CNS) developmental disorder characterized by abnormal cleft extending from the lateral ventricles to the cerebral cortex. Globally, very few cases have been reported in the literature and none from Ghana to the best of our knowledge. Herein, we report a case of schizencephaly in a Ghanaian neonate who presented with suspected ventriculomegaly during a routine antenatal screening. A postnatal ultrasound (US) and computed tomography (CT) scans of the brain revealed a large cerebrospinal fluid (CSF) filled cleft extending from the right lateral ventricle to the right frontotemporal cortex. There was no shift of the midline of the brain and posterior fossa appeared normal. A referral to a pediatric neurologist was made for early intervention, after a diagnosis of unilateral open-lip schizencephaly was made. Antenatal visits are crucial in picking up schizencephaly. Although schizencephaly is a rare congenital disorder, it does occur in Ghana, and it has significant effects on development and function. This condition can also present as ventriculomegaly, focal cortical dysplasia, grey matter heterotopias and porencephaly and therefore thorough radiological investigations are imperative to make a timeous and accurate diagnosis. A trans-fontanelle US and noncontrast head CT scan can be very useful in diagnosing schizencephaly. Treatment and management of schizencephaly are linked to the signs and symptoms and neurorehabilitation plays a pivotal role currently to enhance patients' quality of life.
脑裂畸形是一种罕见的先天性中枢神经系统(CNS)发育障碍,其特征是存在从侧脑室延伸至大脑皮质的异常裂隙。在全球范围内,文献报道的病例极少,据我们所知,加纳尚无相关病例报道。在此,我们报告一例加纳新生儿脑裂畸形病例,该患儿在常规产前筛查中被怀疑存在脑室扩大。产后脑部超声(US)和计算机断层扫描(CT)显示,一个充满脑脊液(CSF)的大裂隙从右侧脑室延伸至右侧额颞叶皮质。脑中线无移位,后颅窝外观正常。在诊断为单侧开放性唇裂脑裂畸形后,转诊至儿科神经科医生进行早期干预。产前检查对于发现脑裂畸形至关重要。尽管脑裂畸形是一种罕见的先天性疾病,但在加纳确实存在,且对发育和功能有重大影响。这种情况也可能表现为脑室扩大、局灶性皮质发育异常、灰质异位症和脑穿通畸形,因此必须进行全面的影像学检查才能及时准确地做出诊断。经囟门超声和非增强头部CT扫描对诊断脑裂畸形可能非常有用。脑裂畸形的治疗和管理与体征和症状相关,目前神经康复在提高患者生活质量方面起着关键作用。