Introduction: Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alpha-actin (1q42) and others. Nemaline myopathy can be inherited as an autosomal recessive or dominant trait. Case report: We present a case of the first pregnancy in a woman with a congenital type of nemaline myopathy, with a severe pulmonary involvement, in the Czech Republic. Course of pregnancy: The woman got spontaneously pregnant less than two months after a respiratory failure, when she had to be tracheostomized, remained dependent on portable ventilator support. The patient strictly refused artificial abortion recommended to her. Until the 22nd gestational week she was stabilized in terms of ventilation and received health care at home. Subsequently, she was repeatedly admitted to the hospital for lung infection to ICU of the Department of Intensive Care. The fetus was developing proportionately, without signs of muscle hypotonia, but after the 23rd g.w. was diagnosed with slightly progressive polyhydramnios. Childbirth: It was decided to schedule termination of the pregnancy by a caesarean section for the 30th g.w., during the interval of the patient´s relatively satisfactory clinical respiratory and mental stabilization. A boy was born (1120g) and was transferred to the NICU. The newborn required artificial pulmonary ventilation, from the 3rd day he was extubated, with intermittent use of nasal CPAP until the 9th day. Results: The baby prospered, tolerated food and showed no signs of muscle hypotonia. A postoperative course of the mother went without any complications. On the 8th postoperative day she was discharged from the hospital, ventilator-dependent and with tracheostomy in place. Conclusion: Pregnancy in women with a congenital type of nemaline myopathy with a severe lung involvement is a challenge for physicians. Based on the course of pregnancy it is necessary to decide when its termination will be safe for both the mother and the fetus. The care of the patient requires a multidisciplinary approach.
| Published in | Journal of Gynecology and Obstetrics (Volume 9, Issue 5) |
| DOI | 10.11648/j.jgo.20210905.16 |
| Page(s) | 167-171 |
| 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), 2021. Published by Science Publishing Group |
Nemaline Myopathy, Pregnancy, Respiratory Failure
| [1] | Vinotha, T, Ruby, J.: Nemaline myopathy and pregnancy: A challenge indeed. Neurology India, 2012, 60 (5); 524-525. |
| [2] | Kanani, N.: Pregnancy in a Patient with Nemaline Myopathy. Obstetric Anesthesia Digest. December 2007, 27 (4); 218. |
| [3] | Berkenstadt, M., Pode-Shakked, B. et al.: LMOD3-Associated Nemaline Myopathy Prenatal Ultrasonographic, Pathologic, and Molecular Findings. J Ultrasound Med 2018; 37: 1827–1833. |
| [4] | Radke J, Stenzel W, Goebel HH. Radke J, et al. Corrigendum to "Recently Identified Congenital Myopathies" Semin Pediatr Neurol. 2019 Dec; 32. |
| [5] | Rudnik-Schöneborn, S., Wallgren-Pettersson, C.: Pregnancy and Delivery in Women with Congenital Myopathies Semin Pediatr Neurol 2019 Apr, 29; 23-29. |
| [6] | Eskandar, O., Eckford, S.: Pregnancy in a Patient With Nemaline Myopathy. Obstet Gynecol 2007 Feb; 109 (2 Pt2): 501-4. |
| [7] | Kuwata T, Matsubara S, Ohkusa T, Yada Y, Suzuki M. Kuwata T, et al. Decreased Fetal Movement Prompts Investigation of prenatal/neonatal Nemaline Myopathy: The Possible Merit of Fetal Movement CountJ Obstet Gynaecol Res. 2011 Jul; 37 (7): 921-5. |
| [8] | Rudnik-Schöneborn S, Wallgren-Pettersson C. Pregnancy and Delivery in Women With Congenital Myopathies. Semin Pediatr Neurol. 2019 Apr; 29: 23-29. |
| [9] | Berkenstadt M, Pode-Shakked B, Barel O, Barash H, Achiron R, Gilboa Y, Kidron D, Raas-Rothschild A. J LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. Ultrasound Med. 2018 Jul; 37 (7): 1827-1833. |
| [10] | Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY. The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. Mol Genet Genomic Med. 2020 Jul; 8 (7): e1229.s |
APA Style
Binder Tomáš, Gerych Pavel, Škola Josef, Beneš Jan, Alwail Abdulhamid, et al. (2021). Pregnancy in a Woman with a Congenital Type of Nemaline Myopathy. Journal of Gynecology and Obstetrics, 9(5), 167-171. https://doi.org/10.11648/j.jgo.20210905.16
ACS Style
Binder Tomáš; Gerych Pavel; Škola Josef; Beneš Jan; Alwail Abdulhamid, et al. Pregnancy in a Woman with a Congenital Type of Nemaline Myopathy. J. Gynecol. Obstet. 2021, 9(5), 167-171. doi: 10.11648/j.jgo.20210905.16
AMA Style
Binder Tomáš, Gerych Pavel, Škola Josef, Beneš Jan, Alwail Abdulhamid, et al. Pregnancy in a Woman with a Congenital Type of Nemaline Myopathy. J Gynecol Obstet. 2021;9(5):167-171. doi: 10.11648/j.jgo.20210905.16
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Download@article{10.11648/j.jgo.20210905.16,
author = {Binder Tomáš and Gerych Pavel and Škola Josef and Beneš Jan and Alwail Abdulhamid and Stádníková Milena and Hitka Patrik and Laštůvková Jana},
title = {Pregnancy in a Woman with a Congenital Type of Nemaline Myopathy},
journal = {Journal of Gynecology and Obstetrics},
volume = {9},
number = {5},
pages = {167-171},
doi = {10.11648/j.jgo.20210905.16},
url = {https://doi.org/10.11648/j.jgo.20210905.16},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.jgo.20210905.16},
abstract = {Introduction: Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alpha-actin (1q42) and others. Nemaline myopathy can be inherited as an autosomal recessive or dominant trait. Case report: We present a case of the first pregnancy in a woman with a congenital type of nemaline myopathy, with a severe pulmonary involvement, in the Czech Republic. Course of pregnancy: The woman got spontaneously pregnant less than two months after a respiratory failure, when she had to be tracheostomized, remained dependent on portable ventilator support. The patient strictly refused artificial abortion recommended to her. Until the 22nd gestational week she was stabilized in terms of ventilation and received health care at home. Subsequently, she was repeatedly admitted to the hospital for lung infection to ICU of the Department of Intensive Care. The fetus was developing proportionately, without signs of muscle hypotonia, but after the 23rd g.w. was diagnosed with slightly progressive polyhydramnios. Childbirth: It was decided to schedule termination of the pregnancy by a caesarean section for the 30th g.w., during the interval of the patient´s relatively satisfactory clinical respiratory and mental stabilization. A boy was born (1120g) and was transferred to the NICU. The newborn required artificial pulmonary ventilation, from the 3rd day he was extubated, with intermittent use of nasal CPAP until the 9th day. Results: The baby prospered, tolerated food and showed no signs of muscle hypotonia. A postoperative course of the mother went without any complications. On the 8th postoperative day she was discharged from the hospital, ventilator-dependent and with tracheostomy in place. Conclusion: Pregnancy in women with a congenital type of nemaline myopathy with a severe lung involvement is a challenge for physicians. Based on the course of pregnancy it is necessary to decide when its termination will be safe for both the mother and the fetus. The care of the patient requires a multidisciplinary approach.},
year = {2021}
}
TY - JOUR T1 - Pregnancy in a Woman with a Congenital Type of Nemaline Myopathy AU - Binder Tomáš AU - Gerych Pavel AU - Škola Josef AU - Beneš Jan AU - Alwail Abdulhamid AU - Stádníková Milena AU - Hitka Patrik AU - Laštůvková Jana Y1 - 2021/10/12 PY - 2021 N1 - https://doi.org/10.11648/j.jgo.20210905.16 DO - 10.11648/j.jgo.20210905.16 T2 - Journal of Gynecology and Obstetrics JF - Journal of Gynecology and Obstetrics JO - Journal of Gynecology and Obstetrics SP - 167 EP - 171 PB - Science Publishing Group SN - 2376-7820 UR - https://doi.org/10.11648/j.jgo.20210905.16 AB - Introduction: Congenital nemaline myopathy is a genetically heterogeneous disease caused by gene defects in a number of genes: nebulin (2q21-22) alpha-tropomysin (1q21-23), alpha-actin (1q42) and others. Nemaline myopathy can be inherited as an autosomal recessive or dominant trait. Case report: We present a case of the first pregnancy in a woman with a congenital type of nemaline myopathy, with a severe pulmonary involvement, in the Czech Republic. Course of pregnancy: The woman got spontaneously pregnant less than two months after a respiratory failure, when she had to be tracheostomized, remained dependent on portable ventilator support. The patient strictly refused artificial abortion recommended to her. Until the 22nd gestational week she was stabilized in terms of ventilation and received health care at home. Subsequently, she was repeatedly admitted to the hospital for lung infection to ICU of the Department of Intensive Care. The fetus was developing proportionately, without signs of muscle hypotonia, but after the 23rd g.w. was diagnosed with slightly progressive polyhydramnios. Childbirth: It was decided to schedule termination of the pregnancy by a caesarean section for the 30th g.w., during the interval of the patient´s relatively satisfactory clinical respiratory and mental stabilization. A boy was born (1120g) and was transferred to the NICU. The newborn required artificial pulmonary ventilation, from the 3rd day he was extubated, with intermittent use of nasal CPAP until the 9th day. Results: The baby prospered, tolerated food and showed no signs of muscle hypotonia. A postoperative course of the mother went without any complications. On the 8th postoperative day she was discharged from the hospital, ventilator-dependent and with tracheostomy in place. Conclusion: Pregnancy in women with a congenital type of nemaline myopathy with a severe lung involvement is a challenge for physicians. Based on the course of pregnancy it is necessary to decide when its termination will be safe for both the mother and the fetus. The care of the patient requires a multidisciplinary approach. VL - 9 IS - 5 ER -
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