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Year : 2015  |  Volume : 10  |  Issue : 4  |  Page : 355-358

Nonketotic hyperglycinemia case series

1 Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester, United Kingdom
2 Department of Paediatrics Neurology, Sheffield Children's Hospital, Sheffield, UK, India

Correspondence Address:
Manish Prasad
Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester LE1 5WW
United Kingdom
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.174445

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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 The first two babies needed intubation on their 2nd day of life because of apneas in whom later, the care was withdrawn after reaching the diagnosis of NKH because of poor prognosis.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.


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