Andrew Wilson

Glynis Price

Maree Grant

Martin de Bock

Shripada Rao

Uma Ganti

International Journal of Pediatric Endocrinology

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POSTER PRESENTATION Open Access
Congenital central hypoventilation syndrome
with hyperinsulinemia in an infant
Uma Ganti1*, Andrew Wilson2, Maree Grant1, Glynis Price1, Shripada Rao3, Martin de Bock1
From 8th APPES Biennial Scientific Meeting
Darwin, Australia. 29 October – 1 November 2014
Congenital central hypoventilation syndrome (CCHS) is a
rare disorder that typically presents in the newborn per-
iod and is characterized by alveolar hypoventilation and
symptoms of autonomic nervous system dysregulation.
We describe an infant with CCHS who developed
hyperinsulinism, which is an uncommon association.
She was born by semi-elective Caesarean section at
37 weeks of gestation after a pregnancy complicated by
polyhydramnios. Apgar scores were 7and 9 (at 1 and
5 min) and birth weight was 3550 g. She was intubated
and ventilated within 24 hours for frequent apnoea’s
and desaturations. Multiple extubation attempts on the
following days failed because of progressive respiratory
acidosis. She underwent tracheostomy at 2 months of
age. CCHS was diagnosed in the first month of life,
after a polyalanine repeat expansion of the PHOX2B
gene (20/26genotype) was detected.
At 7 months of age, she was admitted to hospital with
seizures associated with hypoglycaemia. A critical sample
(glucose 2.5mmol/L) revealed an inappropriately raised
plasma insulin of 3.0 mU/L, growth hormone 7mu/L,
cortisol 470 mmol/L, and serum ketones <0.1g/L. Urine
and serum metabolic screen was normal, as was an EEG.
Diazoxide was commenced at 5 mg/kg/day along with
hydrochlorothiazide at 1mg/kg/d. These relatively low
doses were used in view of parental concerns of potential
drug side effect of hirsutism. The dose had to be
increased to 7.5mg/kg/day as hypoglycaemic episodes
persisted. Capillary blood glucose testing and continuous
glucose monitoring showed no further hypoglycaemia at
this dose. Sequence analysis of the KCNJ11 and ABCC8
genes implicated in congenital hyperinsulinism was
undertaken and no pathogenic mutation was found.
The mechanisms underlying abnormal glycaemia in
CCHS are not fully understood. Multiple hypotheses
have been postulated including the co-expression of the
dopamine beta hydroxylase gene mutation with PHOX
2B mutation. Further, disordered autonomic homeosta-
sis as seen in PHOX2B mutations is thought to impact
the regulation of insulin and glucagon secretion.
Our case highlights the importance of considering
hyperinsulinism in the differential diagnosis of hypogly-
caemia in infants with CCHS.
Written informed consent was obtained from the
patient’s parent or guardian for publication of this abstract
and any accompanying images. A copy of the written con-
sent is available for review by the Editor of this journal.
Authors’ details
1Department of Endocrinology and Diabetes, Princess Margaret Hospital,
Perth, WA, Australia. 2Department of Paediatric Respiratory Medicine, Princess
Margaret Hospital, Perth, WA, Australia. 3Department of Neonatology,
Princess Margaret Hospital, Perth, WA, Australia.
Published: 28 April 2015
doi:10.1186/1687-9856-2015-S1-P122
Cite this article as: Ganti et al.: Congenital central hypoventilation
syndrome with hyperinsulinemia in an infant. International Journal of
Pediatric Endocrinology 2015 2015(Suppl 1):P122.
1Department of Endocrinology and Diabetes, Princess Margaret Hospital,
Perth, WA, Australia
Full list of author information is available at the end of the article
Ganti et al. International Journal of Pediatric Endocrinology 2015, 2015(Suppl 1):P122
http://www.ijpeonline.com/content/2015/S1/P122
© 2015 Ganti et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in
any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://
creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.


Congenital central hypoventilation syndrome with hyperinsulinemia in an infant

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Congenital central hypoventilation syndrome with hyperinsulinemia in an infant

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