Abstract：
:Labrune syndrome is a neurologic disorder that manifests as a progressive cerebral degeneration characterized by a radiologic triad of cerebral white matter disease (leukoencephalopathy), intracranial calcification, and cysts. The associated novel genetic mutation in SNORD118 has been recently identified. However, its significance in relation to the progression and severity of the disease is yet to be clarified. We present a 12-year-old boy with a 3-month history of headache that worsened 1 week before admission and was associated with nausea and vomiting, ataxia, and motor developmental delay. His head scans demonstrated widespread intracranial calcifications, cysts, leukoencephalopathy, and obstructive hydrocephalus. He had urgent endoscopic-assisted aspiration of the cerebellar cyst with insertion of a reservoir with resolution of the hydrocephalus and raised intracranial pressure symptoms. His genetic testing revealed a rare biallelic mutation with 2 variants in the gene SNORD118. The progressive form of this disease will be challenging for neurosurgeons.
journal_name
World Neurosurgjournal_title
World neurosurgeryauthors
Shtaya A,Elmslie F,Crow Y,Hettige Sdoi
10.1016/j.wneu.2019.02.008subject
Has Abstractpub_date
2019-05-01 00:00:00pages
271-272eissn
1878-8750issn
1878-8769pii
S1878-8750(19)30407-3journal_volume
125pub_type
杂志文章abstract：OBJECTIVE:The treatment of giant olfactory groove meningiomas (OGMs; maximum diameter ≥ 6 cm) poses special problems and represents a surgical challenge. We discuss the long-term results in a series of 18 patients with giant OGMs and report our experience on a global strategy encompassing the pterional approach to mana...
journal_title：World neurosurgery
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doi：10.1016/j.wneu.2009.06.001
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journal_title：World neurosurgery
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journal_title：World neurosurgery
pub_type： 杂志文章,评审
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journal_title：World neurosurgery
pub_type： 杂志文章,评审
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更新日期：2020-06-01 00:00:00
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pub_type： 杂志文章,meta分析
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更新日期：2018-12-01 00:00:00
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doi：10.1016/j.wneu.2013.02.089
更新日期：2014-11-01 00:00:00
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journal_title：World neurosurgery
pub_type： 杂志文章
doi：10.1016/j.wneu.2016.03.046
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