Cheong Tien Meng, Seow Wan Tew, Tan Ronald Ming Ren, Thomas Terrence, Chiow Si Min, Goh Jeanette, Qadri Syeda K, Low Sharon Yy
Neurosurgery, KK Women's and Children's Hospital, Singapore, SGP.
Neurosurgery, National Neuroscience Institute, Singapore, SGP.
Cureus. 2023 May 22;15(5):e39353. doi: 10.7759/cureus.39353. eCollection 2023 May.
The cavum vergae cyst (CVC) is an uncommon brain malformation. Most patients with CVC are asymptomatic and do not require neurosurgical intervention. Separately, cerebral X-linked adrenoleukodystrophy (X-ALD) is one of the phenotypes of a genetic peroxisomal disorder that is seldom managed by neurosurgeons. We report an unusual case of cerebral X-ALD presenting as an enlarging CVC in a child, and discuss its nuances in corroboration with the literature. A previously well six-year-old male presented with confusion and fever. Urgent neuroimaging demonstrated a large CVC with resultant hydrocephalus. Of note, there were symmetrical areas of signal changes in the periventricular white matter bilaterally involving the corpus callosum, thalami, cerebral peduncles, midbrain, and pons in his MRI. Further investigations performed as part of his medical workup reported high plasma concentrations of very long-chain fatty acids (VLCFA). Put together, a diagnosis of cerebral X-ALD was confirmed. Initially, an external ventricular drain was inserted directly into the CVC under stereotaxy to decompress it. Subsequently, endoscopic fenestration of the CVC was performed as the definitive treatment. He recovered uneventfully from the neurosurgical interventions and proceeded for the treatment of his cerebral X-ALD. To our knowledge, this is the first report of cerebral X-ALD presenting as a CVC in a patient. This case adds to the limited literature for both rare conditions and highlights the importance of a multidisciplinary approach to management.
透明隔腔囊肿（CVC）是一种罕见的脑部畸形。大多数CVC患者无症状，不需要神经外科干预。另外，脑X连锁肾上腺脑白质营养不良（X-ALD）是一种遗传性过氧化物酶体疾病的表型之一，神经外科医生很少处理这种疾病。我们报告了一例不寻常的儿童脑X-ALD病例，其表现为CVC增大，并结合文献讨论其细微差别。一名此前健康的6岁男性出现意识模糊和发热。紧急神经影像学检查显示一个大的CVC并伴有脑积水。值得注意的是，在他的MRI中，双侧脑室周围白质有对称的信号改变区域，累及胼胝体、丘脑、大脑脚、中脑和脑桥。作为其医学检查的一部分进行的进一步检查报告显示血浆中极长链脂肪酸（VLCFA）浓度很高。综合起来，确诊为脑X-ALD。最初，在立体定向引导下直接将外部脑室引流管插入CVC进行减压。随后，对CVC进行内镜开窗作为确定性治疗。他从神经外科手术中顺利康复，并继续接受脑X-ALD的治疗。据我们所知，这是第一例脑X-ALD以CVC形式出现在患者身上的报告。这个病例为这两种罕见疾病的有限文献增添了内容，并强调了多学科管理方法的重要性。
