Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/19:10395509 RIV/00216208:11130/19:10395509 RIV/00064203:_____/19:10395509 RIV/00064190:_____/19:N0000039

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome

Popis výsledku v původním jazyce

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&apos;s syndrome. Surprisingly, our patient had no macrocephaly, which is a typical finding in MCL1 mutations; we emphasize that comorbid unrelated Turner&apos;s syndrome could explain the absence of macrocephaly: although short stature is typical, microcephaly is not associated with Turner&apos;s syndrome. Our observation thus argues for detailed investigations in cases presenting with an atypical clinical picture. (C) 2019 Elsevier B.V.

Název v anglickém jazyce

Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome

Popis výsledku anglicky

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&apos;s syndrome. Surprisingly, our patient had no macrocephaly, which is a typical finding in MCL1 mutations; we emphasize that comorbid unrelated Turner&apos;s syndrome could explain the absence of macrocephaly: although short stature is typical, microcephaly is not associated with Turner&apos;s syndrome. Our observation thus argues for detailed investigations in cases presenting with an atypical clinical picture. (C) 2019 Elsevier B.V.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Clinical Neurology and Neurosurgery

ISSN

0303-8467

e-ISSN

—

Svazek periodika

184

Číslo periodika v rámci svazku

September

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

3

Strana od-do

105400

Kód UT WoS článku

000482873200047

EID výsledku v databázi Scopus

2-s2.0-85068688803