Nayak Manoj Kumar, Mishra Biswamohan, Levejoseph Sebastian, Garg Ajay, Sarma Kalyan, Sahoo Biswajit, Tripathi Manjari, Gaikwad Shailesh B
Department of Radiodiagnosis, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Department of Neurology, All India Institute of Medical Sciences, New Delhi, Delhi, India.
J Clin Imaging Sci. 2024 Feb 3;14:3. doi: 10.25259/JCIS_87_2023. eCollection 2024.
Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy.
Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients.
In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease.
Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them.
神经嵴细胞（NCCs）是脊椎动物胎儿期的短暂结构，在非神经外胚层和神经外胚层的交界处发育，是多种疾病的共同发育起源。神经管内的神经嵴细胞发生上皮-间质转化（EMT）后，神经嵴细胞开始分层。分层后，这些细胞转化为各种细胞谱系，产生黑素细胞、颅骨的骨骼和软骨、肠神经系统和周围神经系统的细胞。转化后，这些细胞根据细胞谱系迁移到全身的各个部位。神经嵴（NC）形成和迁移异常会导致各种畸形和肿瘤，即所谓的神经嵴病。
本文这个病例系列描述了过去3年中在单一中心治疗头颈部神经嵴疾病的经验，包括17例不同类型（即血管型、发育异常型、混合型和肿瘤型）的病例，涉及患者的脑部，偶尔也涉及皮肤、眼睛和面部。
在我们对17例头颈部神经嵴疾病患者的研究中，6例（35.3%）为血管型，5例（29.4%）为发育异常型，4例（23.5%）为混合型，2例（11.7%）为肿瘤型。所有患者（100%）均有以血管或实质或血管和实质形式存在的脑部受累，6例（35.3%）患者有皮肤受累，2例（11.7%）有眼部受累，1例（5.9%）有面部受累。根据疾病的各种表现制定治疗方案。
神经嵴疾病（NCDs）在文献中是一组罕见且未得到充分认识的疾病，可能由于对其缺乏认识而报告不足。更多这样的报告可能会增加这些罕见疾病的种类，以便临床医生能够高度怀疑，从而实现早期发现和及时咨询，还能改进预防策略，并有助于开发针对这些疾病的新药或预防这些疾病。
