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Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome
Alena Welters1, Ranna El-Khairi2, Antonia Dastamani2
1Department of General Paediatrics, Neonatology and Paediatric Cardiology, Medical Faculty, University Children's Hospital Düsseldorf, Düsseldorf, Germany.
Insights
Rubinstein-Taybi syndrome (RSTS) is associated with persistent hyperinsulinaemic hypoglycaemia (HH). Genetic variants in EP300 or CREBBP confirm RSTS in HH patients, suggesting RSTS as a cause of syndromic HH.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Persistent hyperinsulinaemic hypoglycaemia (HH) has an unknown genetic cause in up to 50% of cases.
- Syndromic causes of HH are recognized, but specific associations require further elucidation.
- Early diagnosis and management of HH are critical to prevent neurological damage.
Observation:
- Four patients with Rubinstein-Taybi syndrome (RSTS) and HH were analyzed.
- Genetic testing identified EP300 or CREBBP variants in all RSTS patients with HH.
- Clinical features included classic RSTS manifestations and choanal atresia/stenosis.
Findings:
- All RSTS patients had pathogenic variants in EP300 or CREBBP, excluding common non-syndromic HH genes.
- HH diagnosis occurred between 1 day and 18 months of age.
- One patient responded to sirolimus after other treatments failed; all required gastrostomy feeding.
Implications:
- This study suggests a significant association between RSTS and persistent HH.
- Clinicians should screen infants with RSTS for HH.
- RSTS should be considered in the differential diagnosis of syndromic HH in infants.
Objective:
Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein-Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Early diagnosis and treatment of HH is crucial to prevent hypoglycaemic brain injury.
Design:
Four RSTS patients with HH were retrospectively analysed.
Methods:
Genetic investigations included next-generation sequencing-based gene panels and exome sequencing. Clinical characteristics, metabolic profile during hypoglycaemia and treatment were reviewed.
Results:
Disease-related EP300 or CREBBP variants were found in all patients, no pathogenic variants were found in a panel of genes associated with non-syndromic HH. Two patients had classic manifestations of RSTS, three had choanal atresia or stenosis. Diagnosis of HH varied from 1 day to 18 months of age. One patient was unresponsive to treatment with diazoxide, octreotide and nifedipine, but responded to sirolimus. All required gastrostomy feeding.
Conclusions:
Given the rarity of RSTS (1:125 000) and HH (1:50 000), our observations indicate an association between these two conditions. We therefore recommend that clinicians should be vigilant in screening for HH in symptomatic infants with RSTS. In children with an apparent syndromic form of HH, RSTS should be considered in the differential diagnosis.
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