Sharma Praveen K, Jerosha Stany, Subramonian Sakthi Ganesh, Raja R Sam, Rk Karpagam
Department of Radiology, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, Tamil Nadu 602105, India.
Radiol Case Rep. 2024 Aug 12;19(11):4794-4803. doi: 10.1016/j.radcr.2024.07.043. eCollection 2024 Nov.
Cobblestone lissencephaly (C-LIS) (TYPE II) is a rare and severe neuronal migration disorder characterized by a smooth brain surface with overmigrated neurons and abnormal formation of cerebral convolutions or gyri during fetal development, resulting in a cobblestone appearance. C-LIS is associated with eye anomalies and muscular dystrophy. This case report presents a detailed clinical and neuroimaging analysis of a patient diagnosed with cobblestone lissencephaly (Type II). It reviews pertinent literature to enhance our understanding of this complex condition. We report a case of a 6-year-old female child with cobblestone lissencephaly (C-LIS) (Type II) severe developmental delays, hypotonia, and recurrent intractable seizures. Magnetic resonance imaging (MRI) revealed a characteristic cobblestone appearance on the brain surface, indicative of abnormal neuronal migration. In addition to the classic findings of Type II Cobblestone lissencephaly, the patient displayed ventriculomegaly and cerebellar hypoplasia, contributing to the overall neurological impairment observed. The literature review highlights the genetic basis of cobblestone lissencephaly, emphasizing the involvement of genes associated with glycosylation processes and basement membrane integrity. Neuroimaging findings, including MRI and computed tomography scans, are crucial for accurate diagnosis and prognostication. Early identification of cobblestone lissencephaly allows for appropriate counseling and management strategies. However, the prognosis remains guarded, and interventions primarily focus on supportive care and seizure management. This case report contributes to the knowledge of cobblestone lissencephaly, shedding light on the clinical spectrum and neuroimaging features associated with this rare disorder. To clarify the underlying genetic mechanisms and possible therapeutic pathways for better patient outcomes, more investigation is necessary.
鹅卵石样无脑回畸形（C-LIS，II型）是一种罕见且严重的神经元迁移障碍，其特征为大脑表面光滑，神经元过度迁移，以及在胎儿发育期间脑回或脑沟形成异常，从而呈现出鹅卵石样外观。C-LIS与眼部异常和肌肉萎缩症相关。本病例报告对一名被诊断为鹅卵石样无脑回畸形（II型）的患者进行了详细的临床和神经影像学分析。它回顾了相关文献以增进我们对这种复杂病症的理解。我们报告了一例6岁女童，患有鹅卵石样无脑回畸形（C-LIS，II型）、严重发育迟缓、肌张力减退和复发性难治性癫痫。磁共振成像（MRI）显示大脑表面有典型的鹅卵石样外观，提示神经元迁移异常。除了II型鹅卵石样无脑回畸形的典型表现外，该患者还表现出脑室扩大和小脑发育不全，这导致了所观察到的整体神经功能损害。文献综述强调了鹅卵石样无脑回畸形的遗传基础，着重指出与糖基化过程和基底膜完整性相关的基因的参与。包括MRI和计算机断层扫描在内的神经影像学检查结果对于准确诊断和预后评估至关重要。早期识别鹅卵石样无脑回畸形有助于采取适当的咨询和管理策略。然而，预后仍然不容乐观，干预措施主要集中在支持性护理和癫痫管理方面。本病例报告有助于增进对鹅卵石样无脑回畸形的认识，揭示与这种罕见疾病相关的临床谱和神经影像学特征。为了阐明潜在的遗传机制和可能的治疗途径以改善患者预后，还需要更多的研究。
