Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

Hennewig, Ulrike; Hadzik, Berit; Vogel, Markus; Meißner, Thomas; Goecke, Timm O.; Peters, Hartmut; Selzer, G.; Mayatepek, Ertan; Hoehn, Thomas

doi:10.1007/s10038-008-0275-1

Cited by 37 publications

(22 citation statements)

References 17 publications

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“…As noted above, most of the case reports reviewed have shown hypoglycemia associated with hyperinsulinemia. The most common mutation seen in CCHS is a PHOX2B expansion associated with hyperalanine [2]. In patients with this mutation, hypoglycemia stems from a genetic coexpression of Dopamine beta hydroxylase precursor (DBH).…”

Section: Review Of Mechanisms and Discussionmentioning

confidence: 99%

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Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure

Hopkins

Stark

Mosquera

2017

Respiratory Medicine Case Reports

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Central Congenital Hypoventilation Syndrome (CCHS) is a rare diagnosis that presents with various forms of autonomic dysfunction. The disease is characterized by reduced chemoreflexes and severe hypoventilation during sleep. Several case reports have noted that patients with CCHS have been found to suffer from hypoglycemic episodes, which frequently present as a seizure. In this report, we will review previous case presentations to alert the physicians about this association with hypoglycemic episodes. Early treatment and monitoring of hypoglycemia will prevent further complications for these populations.

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Section: Review Of Mechanisms and Discussionmentioning

confidence: 99%

“…One case report noted a patient who was found to have episodes of hypoglycemia at 6 weeks of life. In addition, that patient was found to have hyperinsulinemia as a root cause of the hypoglycemia [2]. At the time of their publication, there had only been one other report of hyperinsulinemia associated with CCHS.…”

Section: Review Of Previous Casesmentioning

confidence: 97%

Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure

Hopkins

Stark

Mosquera

2017

Respiratory Medicine Case Reports

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“…Non-polyalanine repeat mutations (NPARMs) 59 were reported in association with CCHS by groups in the US; 41,54,56,59,62 Italy, 18,28,63 Japan, 39 France, 19,53 Germany, 33,64,65 Australia, 66 and China. 67 At this time, 67 individuals with CCHS and NPARMs in PHOX2B have been described worldwide, and mutations include predominantly frameshift mutations (52/67, 78%), but also nonsense (2/67, 3%), missense (11/67, 16%), and missense with stop codon alteration (3/67, 3%) ( Figs.…”

Section: Phox2b Mutations In Cchsmentioning

confidence: 99%

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Weese‐Mayer

Rand

Berry‐Kravis

et al. 2009

Pediatric Pulmonology

102

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Summary. The modern story of CCHS began in 1970 with the first description by Mellins et al., came most visibly to the public eye with the ATS Statement in 1999, and continues with increasingly fast paced advances in genetics. Affected individuals have diffuse autonomic nervous system dysregulation (ANSD). The paired-like homeobox gene PHOX2B is the disease-defining gene for CCHS; a mutation in the PHOX2B gene is requisite to the diagnosis of CCHS. Approximately 90% of individuals with the CCHS phenotype will be heterozygous for a polyalanine repeat expansion mutation (PARM); the normal allele will have 20 alanines and the affected allele will have 24-33 alanines (genotypes 20/24-20/33). The remaining $10% of individuals with CCHS will have a non-PARM (NPARM), in the PHOX2B gene; these will be missense, nonsense, or frameshift. CCHS and PHOX2B are inherited in an autosomal dominant manner with a stable mutation. Approximately 8% of parents of a CCHS proband will be mosaic for the PHOX2B mutation. A growing number of cases of CCHS are identified after the newborn period, with presentation from infancy into adulthood. An improved understanding of the molecular basis of the PHOX2B mutations and of the PHOX2B genotype/CCHS phenotype relationship will allow physicians to anticipate the clinical phenotype for each affected individual. To best convey the remarkable history of CCHS, and to describe the value of recognizing CCHS as a model for translational and transitional autonomic medicine, we present this review article in the format of a chronological story, from 1970 to the present day.

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“…Mutations in at least ten genes have been identified to cause CHI ( ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, HNF4A, HNF1A, SLC16A1, PHOX2B ), most commonly in ABCC8 or KCNJ11 expressing the two subunits of the pancreatic β-cell K ATP -channel, the sulfonylurea receptor 1, and the potassium inward rectifier 6.2 (Kir6.2) (7–11). …”

Section: Introductionmentioning

confidence: 99%

Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study

Helleskov¹,

Melikyan

Globa³

et al. 2017

Front. Endocrinol.

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Background/aimsCongenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. CHI confers a high risk of neurological impairment; however, sparsely studied in larger patient series. We assessed the neurodevelopmental outcome in children with CHI at follow-up in a mixed international cohort.MethodsIn two hyperinsulinism expert centers, 75 CHI patients were included (Russian, n = 33, referred non-Scandinavian, treated in Denmark n = 27, Scandinavian, n = 15). Hospital files were reviewed. At follow-up, neurodevelopmental impairment and neurodevelopmental, cognitive and motor function scores were assessed.ResultsMedian (range) age at follow-up was 3.7 years (3.3 months–18.2 years). Neurodevelopmental impairment was seen in 35 (47%). Impairment was associated with abnormal brain magnetic resonance imaging (MRI); odds ratio (OR) (95% CI) 15.0 (3.0–74.3), p = 0.001; lowest recorded blood glucose ≤1 mmol/L; OR 3.8 (1.3–11.3), p = 0.015, being non-Scandinavian patient, OR 3.8 (1.2–11.9), p = 0.023; and treatment delay from first symptom to expert center >5 days; OR 4.0 (1.0–16.6), trend p = 0.05. In multivariate analysis (n = 31) for early predictors with exclusion of brain MRI, treatment delay from first symptom to expert center >5 days conferred a significantly increased risk of neurodevelopment impairment, adjusted OR (aOR) 15.6 (1.6–146.7), p = 0.016, while lowest blood glucose ≤1 mmol/L had a trend toward increased risk, aOR 3.5 (1.1–14.3), p = 0.058. No associations for early vs. late disease onset, KATP-channel mutations, disease severity, focal vs. diffuse disease, or age at follow-up were seen in uni- or multivariate analysis.ConclusionNot only very low blood glucose, but also insufficient treatment as expressed by delay until expert center hospitalization, increased the risk of neurodevelopmental impairment. This novel finding calls for improvements in spread of knowledge about CHI among health-care personnel and rapid contact with an expert CHI center on suspicion of CHI.

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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

Cited by 37 publications

References 17 publications

Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure

Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study

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