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Letter to the Editor
Diagnostic confusion of demyelinating lesions and incidental diagnosis of a new pathogenic mutation of the FLNA gene
Confusión diagnóstica de lesiones desmielinizantes y diagnóstico incidental de una nueva mutación patogénica del gen FLNA
G. Ezcurra Díaza,
Corresponding author
gaezdi@gmail.com

Corresponding author.
, F. Nuñez Marinb, I. Blanco Guillermoc, C. Ramo-Tellod
a Servicio de Neurología, Departamento de Neurociencias, Hospital Universitario Germans Trias i Pujol, Badalona, Barcelona, Spain
b IDI (Institut de Diagnòstic per la Imatge), Badalona, Barcelona, Spain
c Servicio de Genética Clínica, Hospital Universitario Germans Trias i Pujol, Badalona, Barcelona, Spain
d Unidad de EM-Neuroinmunología, Departamento de Neurociencias, Hospital Universitario Germans Trias I Pujol, Badalona, Barcelona, Spain
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and up to 70&#37; received disease-modifying treatments &#40;occasionally with significant iatrogenic effects&#41; and the incorrect diagnosis was maintained for years&#46; One of the most significant factors in misdiagnosis was the misinterpretation of MRI findings&#44; which may be explained by several reasons&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Therefore&#44; the new 2017 McDonald criteria<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> highlight the importance of clinical symptoms&#44; describing red flags and situations in which criteria should be applied with caution &#40;patients who are asymptomatic or present atypical symptoms&#41;&#44; and recommend expanding the analytical and radiological workup in these cases&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a 19-year-old woman with migraine and no other neurological symptoms&#44; who was referred to our MS unit due to the detection of subcortical and periventricular white matter lesions potentially suggestive of MS in brain MRI studies performed to diagnose her migraines&#46; The patient had history of Caroli disease &#40;congenital ectasia of the intrahepatic bile ducts&#41; and Laubry-Pezzi syndrome &#40;congenital heart malformation characterised by high interventricular communication and secondary aortic valve insufficiency&#41;&#46; Results of the neurological examination were strictly normal&#44; with no evidence of previous episodes suggesting MS relapses&#46; CSF analysis revealed normal cytobiochemical and immunological results&#46; Given the diagnostic uncertainty&#44; the radiological images were reassessed in detail &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; The subcortical lesions were non-specific and were considered an incidental finding in a patient with history of migraine&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> The periventricular lesions presented lower signal intensity on T2-weighted sequences &#40;isointense with regard to the cerebral cortex&#41; and presented a nodular morphology&#44; protruding into the lateral ventricles&#44; with no contrast uptake&#46; They were finally classified as periventricular cortical heterotopia&#46; The patient had no relevant family history&#46; In the second examination&#44; we observed joint hypermobility and hypertelorism&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The patient was referred to the clinical genetics department in view of her multiple congenital malformations&#46; A first array comparative genomic hybridisation study was conducted after the patient received proper genetic counselling&#44; showing no noteworthy alterations&#59; a clinical exome sequencing study identified a probably pathogenic novel variant of the <span class="elsevierStyleItalic">FLNA</span> gene in heterozygosis&#46; This gene encodes the filamin A protein &#40;FLNA&#41;&#44; which binds to actin and many other ligands with a range of cellular structural functions&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> The variant consisted of a deletion of 4 nucleotides &#40;c&#46;6981&#95;6984del&#41; in exon 42&#44; which presumably leads to a frame shift with the appearance of a premature stop codon &#40;p&#46;T2328Ffs&#42;9&#41;&#46; Pathogenic variants of the <span class="elsevierStyleItalic">FLNA</span> gene have been described in association with cardiac valvular dystrophy&#44;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> nodular periventricular heterotopia&#44;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> and otopalatodigital spectrum disorders with characteristics of Ehlers-Danlos syndrome &#40;skin hyperlaxity and joint hypermobility&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">9&#44;10</span></a> As the patient presented these symptoms&#44; this novel variant was classified as probably pathogenic&#46; <span class="elsevierStyleItalic">FLNA</span> presents an X-linked inheritance pattern&#44; and we are awaiting a genetic study of the patient&#8217;s mother&#46; The patient received genetic counselling after the test was performed&#44; including preconception counselling&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">In summary&#44; we present a case in which incidental brain MRI findings were initially attributed to an inflammatory demyelinating aetiology but were ultimately diagnosed as periventricular heterotopia&#46; A genetic study of the patient led to the description of a novel pathogenic mutation of the <span class="elsevierStyleItalic">FLNA</span> gene&#46; This is just one example of the great relevance of correct radiological interpretation of white matter lesions&#44; considering the clinical context of each patient&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Ezcurra D&#237;az G&#44; Nu&#241;ez Marin F&#44; Blanco Guillermo I&#44; Ramo-Tello C&#46; Confusi&#243;n diagn&#243;stica de lesiones desmielinizantes y diagn&#243;stico incidental de una nueva mutaci&#243;n patog&#233;nica del gen <span class="elsevierStyleItalic">FLNA</span>&#46; Neurolog&#237;a&#46; 2022&#59;37&#58;818&#8211;820&#46;</p>"
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A&#41; FLAIR sequence showing subcortical hyperintensities&#44; some of them isointense with the cerebral cortex&#59; these findings were also observed on the proton density&#8211;weighted sequence &#40;B&#41;&#46; C&#41; T1-weighted sequence showing periventricular lesions corresponding with isointense nodular images in the cerebral cortex&#44; without gadolinium uptake &#40;D&#41;&#46; The periventricular findings are highly indicative of periventricular cortical heterotopia&#44; whereas the hyperintense subcortical lesions on FLAIR sequences present non-specific characteristics and are not conclusive for the diagnosis of multiple sclerosis&#46;</p>"
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