Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia
A late preterm female neonate, born to a consanguineously married couple by normal vaginal delivery and unremarkable family history, was admitted to our NICU soon after birth for management of respiratory distress secondary to meconium aspiration syndrome and persistent pulmonary hypertension of new...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-11-01
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| Series: | Dubai Medical Journal |
| Subjects: | |
| Online Access: | https://beta.karger.com/Article/FullText/534896 |
| _version_ | 1797383461117362176 |
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| author | Tushar Kulkarni Lma Dsougi Hussein Mohamed Mahmoud El Halik Fatma Abdulla Mohammad Bastaki |
| author_facet | Tushar Kulkarni Lma Dsougi Hussein Mohamed Mahmoud El Halik Fatma Abdulla Mohammad Bastaki |
| author_sort | Tushar Kulkarni |
| collection | DOAJ |
| description | A late preterm female neonate, born to a consanguineously married couple by normal vaginal delivery and unremarkable family history, was admitted to our NICU soon after birth for management of respiratory distress secondary to meconium aspiration syndrome and persistent pulmonary hypertension of newborn. She required intensive ventilatory and hemodynamic support and was encephalopathic since birth but did not fulfill the criteria for therapeutic hypothermia. Extensive metabolic workup revealed no diagnosis, but neuroimaging showed characteristic findings consistent with the diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. This was supported by the result of whole exome sequence that identified a novel homozygous mutation, c.1191 + 11A>C, for DARS2 gene confirming the diagnosis. |
| first_indexed | 2024-03-08T21:21:19Z |
| format | Article |
| id | doaj.art-6d825eb5e7f54496ad870244e00b67a4 |
| institution | Directory Open Access Journal |
| issn | 2571-726X |
| language | English |
| last_indexed | 2024-03-08T21:21:19Z |
| publishDate | 2023-11-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Dubai Medical Journal |
| spelling | doaj.art-6d825eb5e7f54496ad870244e00b67a42023-12-21T10:09:27ZengKarger PublishersDubai Medical Journal2571-726X2023-11-011410.1159/000534896534896Not All Neonatal Encephalopathies Are due to Perinatal HypoxiaTushar Kulkarni0Lma Dsougi Hussein Mohamed1Mahmoud El Halik2Fatma Abdulla Mohammad Bastaki3Department of Neonatology, Neonatal Intensive Care Unit, Latifa Women and Children Hospital, Dubai, United Arab EmiratesDepartment of Neonatology, Neonatal Intensive Care Unit, Latifa Women and Children Hospital, Dubai, United Arab EmiratesDepartment of Neonatology, Neonatal Intensive Care Unit, Latifa Women and Children Hospital, Dubai, United Arab EmiratesDivision of Pediatric Metabolic and Genetics, Department of Pediatrics, Latifa Women and Children Hospital, Dubai, United Arab EmiratesA late preterm female neonate, born to a consanguineously married couple by normal vaginal delivery and unremarkable family history, was admitted to our NICU soon after birth for management of respiratory distress secondary to meconium aspiration syndrome and persistent pulmonary hypertension of newborn. She required intensive ventilatory and hemodynamic support and was encephalopathic since birth but did not fulfill the criteria for therapeutic hypothermia. Extensive metabolic workup revealed no diagnosis, but neuroimaging showed characteristic findings consistent with the diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. This was supported by the result of whole exome sequence that identified a novel homozygous mutation, c.1191 + 11A>C, for DARS2 gene confirming the diagnosis.https://beta.karger.com/Article/FullText/534896dars2 mutationgenetic disordersleukoencephalopathyneonatal encephalopathyhypoxic ischemic encephalopathy |
| spellingShingle | Tushar Kulkarni Lma Dsougi Hussein Mohamed Mahmoud El Halik Fatma Abdulla Mohammad Bastaki Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia Dubai Medical Journal dars2 mutation genetic disorders leukoencephalopathy neonatal encephalopathy hypoxic ischemic encephalopathy |
| title | Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia |
| title_full | Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia |
| title_fullStr | Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia |
| title_full_unstemmed | Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia |
| title_short | Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia |
| title_sort | not all neonatal encephalopathies are due to perinatal hypoxia |
| topic | dars2 mutation genetic disorders leukoencephalopathy neonatal encephalopathy hypoxic ischemic encephalopathy |
| url | https://beta.karger.com/Article/FullText/534896 |
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