Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10395509" target="_blank" >RIV/00064165:_____/19:10395509 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10395509 RIV/00216208:11130/19:10395509 RIV/00064203:_____/19:10395509 RIV/00064190:_____/19:N0000039
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Vxq7f9II_1" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Vxq7f9II_1</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.clineuro.2019.105400" target="_blank" >10.1016/j.clineuro.2019.105400</a>
Alternative languages
Result language
angličtina
Original language name
Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome
Original language description
We present a case of megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly and who initially presented with severe psychiatric symptoms. The patient presented with presented with late-onset secondary generalized focal motor seizures, gait ataxia and mild spasticity with hyperreflexia. MRI showed diffuse white matter hyperintensities and bilateral anterotemporal cysts. Genetic analysis confirmed the causal MLC1 mutation and Turner's syndrome. Surprisingly, our patient had no macrocephaly, which is a typical finding in MCL1 mutations; we emphasize that comorbid unrelated Turner's syndrome could explain the absence of macrocephaly: although short stature is typical, microcephaly is not associated with Turner's syndrome. Our observation thus argues for detailed investigations in cases presenting with an atypical clinical picture. (C) 2019 Elsevier B.V.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Clinical Neurology and Neurosurgery
ISSN
0303-8467
e-ISSN
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Volume of the periodical
184
Issue of the periodical within the volume
September
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
3
Pages from-to
105400
UT code for WoS article
000482873200047
EID of the result in the Scopus database
2-s2.0-85068688803