1.Endoscopic third ventriculostomy: An outcome analysis of 30 pediatric cases.
Legaspi Gerardo D ; Gionson-Gigataras Doris M ; Aguilar Jose A ; Lopez Willy G
Philippine Journal of Neurology 2004;8(1):27-31
OBJECTIVE: Endoscopic third ventriculostomy (ETV) has been shown to be a sufficient alternative in the surgical treatment of hydrocephalus. Our goal in this retrospective study is to analyze our results with the use of ETV in our first 30 cases that it may provide us with selection criteria as to who among our patients will benefit most from this procedure.
METHODOLOGY: Thirty ETVs were performed in 30 patients. Their ages ranged from 2-155 months. Hydrocephalus was caused by aqueductal stenosis in 17 patients, tumors in 7, post-infectious in 3, Dandy-Walker malformation in 2 and arachnoid cyst in 1 patient. The outcome of ETV was evaluated in 26 of the cases that were available for follow-up
RESULTS: The overall success rate was 69.2 percent. Patients with non-communicating hydrocephalus from post-infectious causes, tumors and aqueductal stenosis had high success rates. Patients less than 6 months of age had a poor outcome. Complications included ventriculitis in 1 patient
CONCLUSION: ETV is a viable treatment option for non-communicating hydrocephalus secondary to post-infectious cause, aqueductal stenosis and tumors. A successful outcome is more likely if ETV is done in patients more than 6 months of age Patients who have previously undergone shunting and who have non-communicating hydrocephalus should undergo ETV at the time of shunt failure. These patients showed good outcome.
Human ; Male ; Female ; Infant ; Ventriculostomy ; Dandy-walker Syndrome ; Arachnoid Cysts ; Hydrocephalus, X-linked ; Hydrocephalus ; Cerebral Aqueduct ; Genetic Diseases, X-linked
2.Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene.
Qichang WU ; Li SUN ; Yasong XU ; Xiaomei YANG ; Shiyu SUN ; Wenbo WANG
Chinese Journal of Medical Genetics 2019;36(9):897-900
OBJECTIVE:
To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.
METHODS:
Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.
RESULTS:
The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.
CONCLUSION
Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
DNA Mutational Analysis
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Female
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Fetus
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Genetic Diseases, X-Linked
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diagnosis
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genetics
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Humans
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Hydrocephalus
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diagnosis
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genetics
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Male
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Mutation
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Neural Cell Adhesion Molecule L1
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genetics
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Pedigree
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Pregnancy