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2015 ; 10
(4
): 355-8
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Nonketotic hyperglycinemia case series
#MMPMID26962342
Iqbal M
; Prasad M
; Mordekar SR
J Pediatr Neurosci
2015[Oct]; 10
(4
): 355-8
PMID26962342
show ga
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 2(nd) 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 1(st) 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 2(nd) 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in whom later, the care was withdrawn after reaching the diagnosis of NKH because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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