Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
-
Yassmin Mansela Musthaffa
,
Vikas Goyal
Abstract
Background
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic control. A hypoglycaemic seizure in a 4-year-old girl with CCHS led to a more detailed examination of glycaemic control in a cohort of children with CCHS.
Methods
We conducted an observational cohort study of glucose homeostasis in seven children (3 months to 12 years) with genetically confirmed CCHS using a combination of continuous glucose monitoring (CGM), fasting studies and oral glucose tolerance test (OGTT). CGM was used to compare the effect of diazoxide and dietary intervention in the index patient.
Results
Hypoglycaemia was not elicited by fasting in any of the patients. Increased postprandial glycaemic variability was evident in all patients using CGM, with seven of seven patients demonstrating initial postprandial hyperglycaemia (plasma-glucose concentration >7.8 mmol/L), followed by asymptomatic hypoglycaemia (plasma-glucose concentration ≤2.8 mmol/L) in two of seven patients that was also demonstrated on OGTT. Both diazoxide and low Glycaemic Index (GI) dietary intervention reduced the proportion of CGM readings <4 mmol/L; however, diazoxide also increased the proportion of readings in the hyperglycaemic range.
Conclusions
Glucose variability associated with autonomic dysfunction may be unrecognised in CCHS, particularly in children with more severe phenotypes. This report highlights the occurrence of hyperglycaemia as well as hypoglycaemia in CCHS. Given the challenges of recognising hypoglycaemia based on clinical symptomatology, the use of CGM may facilitate its identification allowing appropriate management. The observed normoglycaemia during fasting combined with increased postprandial plasma blood glucose level (BGL) variability is more consistent with dumping syndrome than persistent hyperinsulinism. Dietary modifications therefore may be more effective than diazoxide in managing hypoglycaemia.
Acknowledgments
We would like to gratefully acknowledge the contribution of the children and their guardians for partaking in this research.
Author contributions: YM participated in the design and coordination of the study, carried out the chart review and drafted the manuscript. MH conceived the study, participated in its design and coordination, assisted in the interpretation of the data and revised the manuscript. VG, NK, MH and MAH assisted in coordination of the study. All authors read and approved the final manuscript. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The authors declare that they have no competing interests.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)
- Assessment of dental caries and gingival status among a group of type 1 diabetes mellitus and healthy children of South India – a comparative study
- Early adiposity rebound in patients with Prader-Willi syndrome
- Arterial stiffness as a measure of cardiovascular risk in obese adolescents and adolescents with diabetes type 1
- Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
- Do parents of children with metabolic diseases benefit from the Triple P – Positive Parenting Program? A pilot study
- Early higher dosage of alglucosidase alpha in classic Pompe disease
- Insulin resistance in children with familial hyperlipidemia
- Insulin resistance linked to subtle myocardial dysfunction in normotensive Turner syndrome young patients without structural heart diseases
- Acetylcholinesterase activity and bone biochemical markers in premature and full-term neonates
- Baseline characteristics of gender dysphoric youth
- Case Reports
- Multi-disciplinary evaluation of a 5-month-old with hypertrophic cardiomyopathy related to a functional adrenocortical tumor
- A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma
- Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome
Articles in the same Issue
- Frontmatter
- Original Articles
- Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)
- Assessment of dental caries and gingival status among a group of type 1 diabetes mellitus and healthy children of South India – a comparative study
- Early adiposity rebound in patients with Prader-Willi syndrome
- Arterial stiffness as a measure of cardiovascular risk in obese adolescents and adolescents with diabetes type 1
- Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
- Do parents of children with metabolic diseases benefit from the Triple P – Positive Parenting Program? A pilot study
- Early higher dosage of alglucosidase alpha in classic Pompe disease
- Insulin resistance in children with familial hyperlipidemia
- Insulin resistance linked to subtle myocardial dysfunction in normotensive Turner syndrome young patients without structural heart diseases
- Acetylcholinesterase activity and bone biochemical markers in premature and full-term neonates
- Baseline characteristics of gender dysphoric youth
- Case Reports
- Multi-disciplinary evaluation of a 5-month-old with hypertrophic cardiomyopathy related to a functional adrenocortical tumor
- A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma
- Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome
