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Changes in a cerebellar peduncle lesion in a patient with dandy-walker malformation A diffusion tensor imaging study

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Neural Regeneration Research 2013年第5期8卷 474-478页

作者： Ah Young Lee Sung Ho Jang Sang Seok Yeo Ensil Lee Yun Woo Cho Su Min Son Department of Physical Medicine and Rehabilitation College of Medicine Yeungnam University Department of Pediatrics College of Medicine Yeungnam University

We report a patient with severe ataxia due to dandy-walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with dandy-walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar peduncle, the middle cerebellar peduncle, and the inferior cerebellar peduncle were evaluated using fractional anisotropy and the apparent diffusion coefficient. The patients＇ functional ambulation category was 0 at the initial visit, but improved to 2 at the follow-up evaluation, and Berg＇s balance scale score also improved from 0 to 7. Initial diffusion tensor tractography revealed that the inferior cerebellar peduncle was not detected, that the fractional anisotropy of the superior cerebellar peduncle and middle cerebellar peduncle decreased by two standard deviations below, and that the apparent diffusion coefficient increased by two standard deviations over normal control values. However, on follow-up diffusion tensor tractography, both inferior cerebellar peduncles could be detected, and the fractional anisotropy of superior cerebellar peduncle increased to within two standard deviations of normal controls. The functional improvement in this patient appeared to correspond to changes in these cerebellar peduncles. We believe that evaluating cerebellar peduncles using diffusion tensor imaging is useful in cases when a cerebellar peduncle lesion is suspected.

关键词： neural regeneration neuroimaging dandy-walker malformation cerebellar peduncle ataxia cerebral palsy functional ambulation category Berg's balance scale fractional anisotropy apparent diffusion coefficient diffusion tensor tractography diffusion tensor imaging grants-supported paper photographs-containing paper neuroregeneration

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DVL mutations identified from human neural tube defects and dandy-walker malformation obstruct the Wnt signaling pathway

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Journal of Genetics and Genomics 2020年第6期47卷 301-310页

作者： Lingling Liu Weiqi Liu Yan Shi Ling Li Yunqian Gao Yunping Lei Richard Finnell Ting Zhang Feng Zhang Li Jin Huili Li Wufan Tao Hongyan Wang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering at School of Life SciencesFudan UniversityShanghai200011China NHC Key Lab of Reproduction(Shanghai Institute of Planned Parenthood Research) Institute of Reproduction and DevelopmentFudan UniversityShanghai200032China Departments of Molecular and Cellular Biology and Medicine Baylor College of MedicineHoustonTX77030USA Capital Institute of Pediatrics Beijing100020China Children's Hospital and Institutes of Biomedical Sciences Fudan UniversityShanghai200032China Molecular Cellular and Developmental BiologyUniversity of Colorado BoulderBoulderCO 80309USA Insititute of Developmental Biology and Molecular Medicine Fudan UniversityShanghai200433China

Wnt signaling pathways,including the canonical Wnt/β-catenin pathway,planar cell polarity pathway,and Wnt/Ca2+signaling pathway,play important roles in neural development during embryonic *** DVL genes encode the hub proteins for Wnt signaling *** mutations in DVL2 and DVL3 were identified from patients with neural tube defects(NTDs),but their functions in the pathogenesis of human neural diseases remain ***,we sequenced the coding regions of three DVL genes in 176 stillborn or miscarried fetuses with NTDs or dandy-walker malformation(DWM)and 480 adult controls from a Han Chinese *** rare mutations were identified:DVL1 p.R558 H,DVL1 p.R606 C,DVL2 p.R633 W,and DVL3 p.R222 *** assess the effect of these mutations on NTDs and DWM,various functional analyses such as luciferase reporter assay,stress fiber formation,and in vivo teratogenic assay were *** results showed that the DVL2 p.R633 W mutation destabilized DVL2 protein and upregulated activities for all three Wnt signalings(Wnt/β-catenin signaling,Wnt/planar cell polarity signaling,and Wnt/Ca2+signaling)in mammalian *** contrast,DVL1 mutants(DVL1 p.R558 H and DVL1 p.R606 C)decreased canonical Wnt/β-catenin signaling but increased the activity of Wnt/Ca2+signaling,and DVL3 p.R222 Q only decreased the activity of Wnt/Ca2+*** also found that only the DVL2 p.R633 W mutant displayed more severe teratogenicity in zebrafish embryos than wild-type *** study demonstrates that these four rare DVL mutations,especially DVL2 p.R633 W,may contribute to human neural diseases such as NTDs and DWM by obstructing Wnt signaling pathways.

关键词： DVL genes Mutation NTD dandy-walker malformation Wnt pathway

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Y-shaped shunt for the treatment of dandy-walker malformation combined with giant arachnoid cysts:A case report

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World Journal of Clinical Cases 2022年第7期10卷 2275-2280页

作者： Zhi-Qiang Dong Yan-Fei Jia Zhen-Shan Gao Qiao Li Liang Niu Qiang Yang Ya-Wen Pan Qiang Li Department of Neurosurgery The Second Hospital of Lanzhou UniversityLanzhou 730030Gansu ProvinceChina Institute of Neurology The Second Hospital of Lanzhou UniversityLanzhou 730030Gansu ProvinceChina

BACKGROUND dandy-walker malformation(DWM)was first reported in *** this case report,a pediatric case was complicated with giant and isolated arachnoid cysts in the right cerebellar hemisphere along with the typical *** SUMMARY The patient was at 20 mo old boy,with the complaint of staggering for more than 2 *** was admitted to the hospital due to high intracranial pressure and *** admission,the patient had typical manifestations of high intracranial pressure,including vomiting,poor appetite and feeding *** examination revealed increased head circumference,closed anterior fontanelle,unstable standing,staggering,leaning right while walking and *** admission,he was diagnosed with DWM accompanied by giant isolated arachnoid cysts in the posterior *** underwent Y-shaped three-way valve repair for treating differential pressure between the supratentorial hydrocephalus and the subtentorial arachnoid cysts at *** child recovered well after the *** In this case,supratentorial and subtentorial shunts were placed,which solved the problem of differential pressure between the supratentorial and subtentorial parts *** provides useful information regarding treatment exploration in this rare disease.

关键词： Arachnoid cyst Cysto-peritoneal shunt dandy-walker malformation Ventriculoperitoneal shunt Case report

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