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Abstract：
BACKGROUND: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays. The spinal cord is frequently affected, leading to problems like medullary compression and radiculopathy, causing back pain and sensory/motor deficits. Surgical interventions are reserved for symptomatic cases to address hydrocephalus or alleviate spinal lipomas. This article reviews a case series to assess surgical risks and neurological outcomes.
METHODS: We present a case series ECCL, focusing on the diffuse lipomatosis of the spinal cord and the intricate surgical procedures involved. A multi-stage surgical approach was adopted, with continuous neuromonitoring employed to safeguard motor pathways. We discuss clinical characteristics, imaging studies, and indications for neurosurgical interventions.
CONCLUSIONS: ECCL is a complex syndrome. Diagnosis is challenging and includes clinical evaluation, neuroimaging, and genetic testing. Treatment targets specific symptoms, often requiring surgery for issues like lipomas or cerebral cysts. Surgery involves laminectomies, spinal fusion, and motor pathway monitoring. Thorough follow-up is crucial due to potential CNS complications like low-grade gliomas. Hydrocephalus occurs in some cases, with endoscopic third ventriculostomy (ETV) preferred over ventriculoperitoneal shunt placement.
CONCLUSIONS: Neurosurgery for ECCL is for symptomatic cases. ETV is preferred for hydrocephalus, while the treatment for lipoma is based on the presence of symptoms; the follow-up should assess growth and prevent deformities.
METHODS: We present a case series ECCL, focusing on the diffuse lipomatosis of the spinal cord and the intricate surgical procedures involved. A multi-stage surgical approach was adopted, with continuous neuromonitoring employed to safeguard motor pathways. We discuss clinical characteristics, imaging studies, and indications for neurosurgical interventions.
CONCLUSIONS: ECCL is a complex syndrome. Diagnosis is challenging and includes clinical evaluation, neuroimaging, and genetic testing. Treatment targets specific symptoms, often requiring surgery for issues like lipomas or cerebral cysts. Surgery involves laminectomies, spinal fusion, and motor pathway monitoring. Thorough follow-up is crucial due to potential CNS complications like low-grade gliomas. Hydrocephalus occurs in some cases, with endoscopic third ventriculostomy (ETV) preferred over ventriculoperitoneal shunt placement.
CONCLUSIONS: Neurosurgery for ECCL is for symptomatic cases. ETV is preferred for hydrocephalus, while the treatment for lipoma is based on the presence of symptoms; the follow-up should assess growth and prevent deformities.
摘要：
背景：头颅皮肤脂肪瘤病（ECCL）是一种罕见的先天性综合征，具有复杂的皮肤，眼睛,中枢神经系统（CNS）症状。由于其罕见和多样的表现，诊断和治疗具有挑战性。它通常涉及像头颅囊肿这样的问题，皮质萎缩,中枢神经系统的低度胶质瘤，导致发育迟缓。脊髓经常受到影响，导致延髓压迫和神经根病等问题，导致背痛和感觉/运动障碍。手术干预保留用于有症状的病例，以解决脑积水或缓解脊髓脂肪瘤。本文回顾了一系列病例，以评估手术风险和神经系统预后。
方法：我们提供一个病例系列ECCL，重点关注脊髓的弥漫性脂肪瘤病和复杂的外科手术。采用多阶段手术方法,采用连续神经监测来保护运动通路。我们讨论临床特征，影像学检查,以及神经外科干预的适应症。
结论：ECCL是一种复杂的综合征。诊断具有挑战性，包括临床评估，神经影像学,和基因检测。治疗目标特定的症状，经常需要手术治疗如脂肪瘤或脑囊肿。手术涉及椎板切除术,脊柱融合术,和运动路径监测。由于潜在的中枢神经系统并发症，如低级别神经胶质瘤，彻底的随访至关重要。在某些情况下发生脑积水，内镜下第三脑室造瘘术（ETV）优于脑室腹腔分流术。
结论：ECCL的神经外科手术是针对有症状的病例。ETV是脑积水的首选，虽然脂肪瘤的治疗是基于症状的存在;随访应评估生长和预防畸形。
方法：我们提供一个病例系列ECCL，重点关注脊髓的弥漫性脂肪瘤病和复杂的外科手术。采用多阶段手术方法,采用连续神经监测来保护运动通路。我们讨论临床特征，影像学检查,以及神经外科干预的适应症。
结论：ECCL是一种复杂的综合征。诊断具有挑战性，包括临床评估，神经影像学,和基因检测。治疗目标特定的症状，经常需要手术治疗如脂肪瘤或脑囊肿。手术涉及椎板切除术,脊柱融合术,和运动路径监测。由于潜在的中枢神经系统并发症，如低级别神经胶质瘤，彻底的随访至关重要。在某些情况下发生脑积水，内镜下第三脑室造瘘术（ETV）优于脑室腹腔分流术。
结论：ECCL的神经外科手术是针对有症状的病例。ETV是脑积水的首选，虽然脂肪瘤的治疗是基于症状的存在;随访应评估生长和预防畸形。
