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Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound

Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors in the skin, brain, kidneys, lung and heart [1]. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures, cognitive impairment and behavioral problems. Current evidence...

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Detalles Bibliográficos
Autores principales: Hanes, Ilana, Muir, Katherine, Abdeen, Nishard, Sell, Erick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7182691/
https://www.ncbi.nlm.nih.gov/pubmed/32346461
http://dx.doi.org/10.1016/j.radcr.2020.04.003
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author Hanes, Ilana
Muir, Katherine
Abdeen, Nishard
Sell, Erick
author_facet Hanes, Ilana
Muir, Katherine
Abdeen, Nishard
Sell, Erick
author_sort Hanes, Ilana
collection PubMed
description Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors in the skin, brain, kidneys, lung and heart [1]. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures, cognitive impairment and behavioral problems. Current evidence suggests anti-epileptic treatment before the onset of seizures reduces epilepsy severity and risk of cognitive impairment in TSC however identifying these children prior to the onset of seizures is challenging. Our case shows retrospectively reviewed antenatal ultrasounds of a male child diagnosed postnatally at 12 days of life with TSC. Analysis found a soft tissue mass in the right ventricle on antenatal ultrasound which was not captured in the initial ultrasound report. Though there are no reports of sensitivity of neurosonography for the antenatal detection of intracranial abnormalities associated with TSC, our case suggests that antenatal ultrasound could be used as a screening modality for antenatal diagnosis of TSC.
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spelling pubmed-71826912020-04-28 Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound Hanes, Ilana Muir, Katherine Abdeen, Nishard Sell, Erick Radiol Case Rep Pediatric Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors in the skin, brain, kidneys, lung and heart [1]. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures, cognitive impairment and behavioral problems. Current evidence suggests anti-epileptic treatment before the onset of seizures reduces epilepsy severity and risk of cognitive impairment in TSC however identifying these children prior to the onset of seizures is challenging. Our case shows retrospectively reviewed antenatal ultrasounds of a male child diagnosed postnatally at 12 days of life with TSC. Analysis found a soft tissue mass in the right ventricle on antenatal ultrasound which was not captured in the initial ultrasound report. Though there are no reports of sensitivity of neurosonography for the antenatal detection of intracranial abnormalities associated with TSC, our case suggests that antenatal ultrasound could be used as a screening modality for antenatal diagnosis of TSC. Elsevier 2020-04-22 /pmc/articles/PMC7182691/ /pubmed/32346461 http://dx.doi.org/10.1016/j.radcr.2020.04.003 Text en © 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Pediatric
Hanes, Ilana
Muir, Katherine
Abdeen, Nishard
Sell, Erick
Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound
title Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound
title_full Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound
title_fullStr Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound
title_full_unstemmed Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound
title_short Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound
title_sort tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound
topic Pediatric
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7182691/
https://www.ncbi.nlm.nih.gov/pubmed/32346461
http://dx.doi.org/10.1016/j.radcr.2020.04.003
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