Capillary malformation arteriovenous malformation syndrome (CV-AVM) is marked by the appearance of vascular lesions on the skin, frequently found on the face and limbs. The main genetic defect in this syndrome is a mutation in the RASA-1 gene transmitted in an autosomal dominant manner. Besides, this syndrome is characterized by a wide intra- and interfamilial variability in clinical manifestations. In fact, little is known about prenatally diagnosed cases of CV-AVM. Here, we report the case of a 25 year-old woman admitted during her third pregnancy for management of unexplained polyhydramnios. Prenatal genetic analysis (Mendeliom sequencing from amniotic fluid), performed due to two previous unexplained fetal losses, showed a mutation in a heterozygous state in RASA-1 gene c.2367 C>T (p.Arg789*). Hence, an antenatal diagnosis of CV AVM was then made. An emergency cesarean section was performed at 31 5/7 weeks due to complications of the second amnioreduction. At birth, the neonate presented five erythematous lesions with diameters of 1-3 cm, similarly to those found on the father. No signs of arteriovenous malformations was detected on MRI of the brain and spine. No other anomaly has been found. Despite its autosomal mode of transmission, CV-AVM is still underrecognized due to its variable clinical presentation. Our report underlines that CM-AVM should be considered at the first clinical examination of a neonate revealing atypical capillary malformations especially in the context of unexplained polyhydramnios, previous fetal losses, or family history of clinical presentation of CM. When genetic diagnose is made a follow-up should be organized during the period of early childhood.
| Published in | American Journal of Pediatrics (Volume 7, Issue 3) |
| DOI | 10.11648/j.ajp.20210703.20 |
| Page(s) | 145-149 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Capillary Malformations, Arteriovenous Malformation, Arteriovenous Fistulas, RASA1, EPHB4
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APA Style
Somia Errazaki, Martina Marangoni, Guillaume Smits, Boris Lubicz, Dorottya Kelen. (2021). A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM). American Journal of Pediatrics, 7(3), 145-149. https://doi.org/10.11648/j.ajp.20210703.20
ACS Style
Somia Errazaki; Martina Marangoni; Guillaume Smits; Boris Lubicz; Dorottya Kelen. A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM). Am. J. Pediatr. 2021, 7(3), 145-149. doi: 10.11648/j.ajp.20210703.20
AMA Style
Somia Errazaki, Martina Marangoni, Guillaume Smits, Boris Lubicz, Dorottya Kelen. A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM). Am J Pediatr. 2021;7(3):145-149. doi: 10.11648/j.ajp.20210703.20
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Download@article{10.11648/j.ajp.20210703.20,
author = {Somia Errazaki and Martina Marangoni and Guillaume Smits and Boris Lubicz and Dorottya Kelen},
title = {A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM)},
journal = {American Journal of Pediatrics},
volume = {7},
number = {3},
pages = {145-149},
doi = {10.11648/j.ajp.20210703.20},
url = {https://doi.org/10.11648/j.ajp.20210703.20},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20210703.20},
abstract = {Capillary malformation arteriovenous malformation syndrome (CV-AVM) is marked by the appearance of vascular lesions on the skin, frequently found on the face and limbs. The main genetic defect in this syndrome is a mutation in the RASA-1 gene transmitted in an autosomal dominant manner. Besides, this syndrome is characterized by a wide intra- and interfamilial variability in clinical manifestations. In fact, little is known about prenatally diagnosed cases of CV-AVM. Here, we report the case of a 25 year-old woman admitted during her third pregnancy for management of unexplained polyhydramnios. Prenatal genetic analysis (Mendeliom sequencing from amniotic fluid), performed due to two previous unexplained fetal losses, showed a mutation in a heterozygous state in RASA-1 gene c.2367 C>T (p.Arg789*). Hence, an antenatal diagnosis of CV AVM was then made. An emergency cesarean section was performed at 31 5/7 weeks due to complications of the second amnioreduction. At birth, the neonate presented five erythematous lesions with diameters of 1-3 cm, similarly to those found on the father. No signs of arteriovenous malformations was detected on MRI of the brain and spine. No other anomaly has been found. Despite its autosomal mode of transmission, CV-AVM is still underrecognized due to its variable clinical presentation. Our report underlines that CM-AVM should be considered at the first clinical examination of a neonate revealing atypical capillary malformations especially in the context of unexplained polyhydramnios, previous fetal losses, or family history of clinical presentation of CM. When genetic diagnose is made a follow-up should be organized during the period of early childhood.},
year = {2021}
}
TY - JOUR T1 - A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM) AU - Somia Errazaki AU - Martina Marangoni AU - Guillaume Smits AU - Boris Lubicz AU - Dorottya Kelen Y1 - 2021/08/09 PY - 2021 N1 - https://doi.org/10.11648/j.ajp.20210703.20 DO - 10.11648/j.ajp.20210703.20 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 145 EP - 149 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20210703.20 AB - Capillary malformation arteriovenous malformation syndrome (CV-AVM) is marked by the appearance of vascular lesions on the skin, frequently found on the face and limbs. The main genetic defect in this syndrome is a mutation in the RASA-1 gene transmitted in an autosomal dominant manner. Besides, this syndrome is characterized by a wide intra- and interfamilial variability in clinical manifestations. In fact, little is known about prenatally diagnosed cases of CV-AVM. Here, we report the case of a 25 year-old woman admitted during her third pregnancy for management of unexplained polyhydramnios. Prenatal genetic analysis (Mendeliom sequencing from amniotic fluid), performed due to two previous unexplained fetal losses, showed a mutation in a heterozygous state in RASA-1 gene c.2367 C>T (p.Arg789*). Hence, an antenatal diagnosis of CV AVM was then made. An emergency cesarean section was performed at 31 5/7 weeks due to complications of the second amnioreduction. At birth, the neonate presented five erythematous lesions with diameters of 1-3 cm, similarly to those found on the father. No signs of arteriovenous malformations was detected on MRI of the brain and spine. No other anomaly has been found. Despite its autosomal mode of transmission, CV-AVM is still underrecognized due to its variable clinical presentation. Our report underlines that CM-AVM should be considered at the first clinical examination of a neonate revealing atypical capillary malformations especially in the context of unexplained polyhydramnios, previous fetal losses, or family history of clinical presentation of CM. When genetic diagnose is made a follow-up should be organized during the period of early childhood. VL - 7 IS - 3 ER -
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