PDF(Pubmed)
Abstract：
A 29-year-old female, with giant congenital melanocytic naevi (GCMN) presented with a-year history of symptoms and signs of intracranial hypertension. Investigations revealed raised cerebrospinal fluid (CSF) pressure and severe hypoglycorrhachia (low CSF glucose) without pleocytosis. Initial contrast-enhanced brain MRI was normal, but a repeat MRI after a year showed meningeal enhancement with mild communicating hydrocephalus. The raised intracranial pressure was treated with a lumbar-peritoneal shunt. Intraoperative CSF cytology revealed an abundance of squamous epithelia and degenerative cells, but no malignant cells. Her symptoms recovered with CSF diversion via shunt placement, but the hypoglycorrhachia remained. This case highlights the rare occurrence of a non-inflammatory cause of both intracranial hypertension and severe hypoglycorrhachia in a GCMN adult patient, with progressive radiological changes over time, consistent with a diagnosis of neurocutaneous melanosis.
摘要：
一位29岁的女性,患有巨大的先天性黑素细胞痣（GCMN），有一年的颅内高压症状和体征。调查显示脑脊液（CSF）压力升高和严重的低血糖（低CSF葡萄糖），无细胞增多。初始对比增强脑部MRI正常,但一年后再次MRI显示脑膜增强伴轻度交通性脑积水.颅内压升高采用腰-腹腔分流术治疗。术中脑脊液细胞学检查显示大量鳞状上皮细胞和变性细胞，但没有恶性细胞.她的症状通过分流术分流后恢复，但是血糖过低的人仍然存在。该病例强调了GCMN成年患者中罕见的颅内高压和严重低血糖的非炎性原因。随着时间的推移，放射学的逐渐变化，与神经皮肤黑变病的诊断一致。
