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Prenatal Diagnosis of Neu–Laxova Syndrome

Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and...

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Autores principales: Serrano Olave, Adriana, López, Alba Padín, Cruz, María Martín, Rodríguez, Susana Monís, Narbona Arias, Isidoro, López, Jesús S. Jiménez
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324762/
https://www.ncbi.nlm.nih.gov/pubmed/35885441
http://dx.doi.org/10.3390/diagnostics12071535
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author Serrano Olave, Adriana
López, Alba Padín
Cruz, María Martín
Rodríguez, Susana Monís
Narbona Arias, Isidoro
López, Jesús S. Jiménez
author_facet Serrano Olave, Adriana
López, Alba Padín
Cruz, María Martín
Rodríguez, Susana Monís
Narbona Arias, Isidoro
López, Jesús S. Jiménez
author_sort Serrano Olave, Adriana
collection PubMed
description Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu–Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu–Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.
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spelling pubmed-93247622022-07-27 Prenatal Diagnosis of Neu–Laxova Syndrome Serrano Olave, Adriana López, Alba Padín Cruz, María Martín Rodríguez, Susana Monís Narbona Arias, Isidoro López, Jesús S. Jiménez Diagnostics (Basel) Review Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu–Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu–Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time. MDPI 2022-06-23 /pmc/articles/PMC9324762/ /pubmed/35885441 http://dx.doi.org/10.3390/diagnostics12071535 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Serrano Olave, Adriana
López, Alba Padín
Cruz, María Martín
Rodríguez, Susana Monís
Narbona Arias, Isidoro
López, Jesús S. Jiménez
Prenatal Diagnosis of Neu–Laxova Syndrome
title Prenatal Diagnosis of Neu–Laxova Syndrome
title_full Prenatal Diagnosis of Neu–Laxova Syndrome
title_fullStr Prenatal Diagnosis of Neu–Laxova Syndrome
title_full_unstemmed Prenatal Diagnosis of Neu–Laxova Syndrome
title_short Prenatal Diagnosis of Neu–Laxova Syndrome
title_sort prenatal diagnosis of neu–laxova syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324762/
https://www.ncbi.nlm.nih.gov/pubmed/35885441
http://dx.doi.org/10.3390/diagnostics12071535
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