Nonketotic hyperglycinemia case series
To present three cases who presented with neonatal hiccups and who were later diagnosed with nonketotic hyperglycinemia (NKH). Case series. We present three babies who presented in neonatal life with hiccups who later were diagnosed with NKH. Two babies presented on the 2nd day of life with hypotoni...
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| Format: | Online |
| Language: | English |
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Medknow Publications & Media Pvt Ltd
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770648/ |
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pubmed-47706482016-03-09 Nonketotic hyperglycinemia case series Iqbal, Mehtab Prasad, Manish Mordekar, Santosh R. Case Report To present three cases who presented with neonatal hiccups and who were later diagnosed with nonketotic hyperglycinemia (NKH). Case series. We present three babies who presented in neonatal life with hiccups who later were diagnosed with NKH. Two babies presented on the 2nd day of life with hypotonia, poor feeding, and abnormal movements including jitteriness, hiccups, and twitching. The third baby only had transient hiccups lasting for a couple of days in the 1st week of life but later presented at 3 months of age with poor feeding, drowsiness, and jerky movements. All three cases needed extensive investigations before reaching the diagnosis including metabolic screen, lumbar puncture, electroencephalography, and computed tomography/magnetic resonance imaging. The first two babies needed intubation on their 2nd day of life because of apneas in whom later, the care was withdrawn after reaching the diagnosis of NKH because of poor prognosis. The third baby was discharged home on oral dextromethorphan and ketogenic diet. We discuss the importance of early recognition of symptoms (frequent hiccups) and investigation needed to reach the diagnosis early as it helps in making decision to either carry on treatment or withdraw care because of poor prognosis. It also helps in genetic counseling and prenatal diagnosis can be offered at the subsequent pregnancy. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4770648/ /pubmed/26962342 http://dx.doi.org/10.4103/1817-1745.174445 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution NonCommercial ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Iqbal, Mehtab Prasad, Manish Mordekar, Santosh R. |
| spellingShingle |
Iqbal, Mehtab Prasad, Manish Mordekar, Santosh R. Nonketotic hyperglycinemia case series |
| author_facet |
Iqbal, Mehtab Prasad, Manish Mordekar, Santosh R. |
| author_sort |
Iqbal, Mehtab |
| title |
Nonketotic hyperglycinemia case series |
| title_short |
Nonketotic hyperglycinemia case series |
| title_full |
Nonketotic hyperglycinemia case series |
| title_fullStr |
Nonketotic hyperglycinemia case series |
| title_full_unstemmed |
Nonketotic hyperglycinemia case series |
| title_sort |
nonketotic hyperglycinemia case series |
| description |
To present three cases who presented with neonatal hiccups and who were later diagnosed with nonketotic hyperglycinemia (NKH). Case series. We present three babies who presented in neonatal life with hiccups who later were diagnosed with NKH. Two babies presented on the 2nd day of life with hypotonia, poor feeding, and abnormal movements including jitteriness, hiccups, and twitching. The third baby only had transient hiccups lasting for a couple of days in the 1st week of life but later presented at 3 months of age with poor feeding, drowsiness, and jerky movements. All three cases needed extensive investigations before reaching the diagnosis including metabolic screen, lumbar puncture, electroencephalography, and computed tomography/magnetic resonance imaging. The first two babies needed intubation on their 2nd day of life because of apneas in whom later, the care was withdrawn after reaching the diagnosis of NKH because of poor prognosis. The third baby was discharged home on oral dextromethorphan and ketogenic diet. We discuss the importance of early recognition of symptoms (frequent hiccups) and investigation needed to reach the diagnosis early as it helps in making decision to either carry on treatment or withdraw care because of poor prognosis. It also helps in genetic counseling and prenatal diagnosis can be offered at the subsequent pregnancy. |
| publisher |
Medknow Publications & Media Pvt Ltd |
| publishDate |
2015 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770648/ |
| _version_ |
1613544603271561216 |