The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis

Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected...

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Autores principales: Borțea, Claudia Ioana, David, Vlad Laurentiu, Stoica, Florina, Mureșan, Cezara, Boia, Marioara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085840/
https://www.ncbi.nlm.nih.gov/pubmed/32231836
http://dx.doi.org/10.1155/2020/1309184
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author Borțea, Claudia Ioana
David, Vlad Laurentiu
Stoica, Florina
Mureșan, Cezara
Boia, Marioara
author_facet Borțea, Claudia Ioana
David, Vlad Laurentiu
Stoica, Florina
Mureșan, Cezara
Boia, Marioara
author_sort Borțea, Claudia Ioana
collection PubMed
description Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up. The seven major and minor criteria were regarded as sufficient for accurate diagnosis.
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spelling pubmed-70858402020-03-30 The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis Borțea, Claudia Ioana David, Vlad Laurentiu Stoica, Florina Mureșan, Cezara Boia, Marioara Case Rep Pediatr Case Report Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up. The seven major and minor criteria were regarded as sufficient for accurate diagnosis. Hindawi 2020-03-10 /pmc/articles/PMC7085840/ /pubmed/32231836 http://dx.doi.org/10.1155/2020/1309184 Text en Copyright © 2020 Claudia Ioana Borțea et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Borțea, Claudia Ioana
David, Vlad Laurentiu
Stoica, Florina
Mureșan, Cezara
Boia, Marioara
The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis
title The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis
title_full The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis
title_fullStr The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis
title_full_unstemmed The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis
title_short The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis
title_sort value of imagistics in early diagnosis of tuberous sclerosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085840/
https://www.ncbi.nlm.nih.gov/pubmed/32231836
http://dx.doi.org/10.1155/2020/1309184
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