Abstract
BackgroundPersistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia.Patient presentationWe report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dysmorphisms, neonatal hypotonia, and cerebellar vermis hypoplasia raised suspicion of Kabuki syndrome. Hyperinsulinemic hypoglycemia was confirmed with glucagon test and whole-exome sequencing (WES) found a novel heterozygous splicing-site mutation (c.674-1G > A) in KMT2D gene. Hyperinsulinemic hypoglycemia was successfully treated with diazoxide. At 3 months corrected age for prematurity, a mild global neurodevelopmental delay, postnatal weight and occipitofrontal circumference growth failure were reported.ConclusionsKabuki syndrome should be considered when facing neonatal persistent hypoglycemia. Diazoxide may help to improve hyperinsulinemic hypoglycemia. A multidisciplinary and individualized follow-up should be carried out for early diagnosis and treatment of severe pathological associated conditions.
Highlights
The Pediatric Endocrine Society suggests a plasma glucose concentration of 50 mg/dL (2.8 mmol/L), corresponding to 45 mg/dL in whole blood, or less as an appropriate threshold to trigger further diagnostic testing in a child less than 48 h old, and 60 mg/dL (3.3 mmol/L) corresponding to 50 mg/dL in whole blood, or less after 48 h of age [1]
Piro et al Italian Journal of Pediatrics (2020) 46:136 gene defects involved in insulin secretion, and those associated with syndromes such as overgrowth syndromes, like Beckwith-Wiedemann syndrome, or post-natal growth failure syndromes like RASopathies, and Kabuki make-up syndrome (KS) [4]
Since the first patients with Kabuki syndrome (KS) reported at our Department 30 years ago [11], we have encountered other patients [12], and recently a KS presenting with facial dysmorphisms, neonatal hypotonia, cerebral anomalies, feeding difficulties, and neonatal hyperinsulinemic hypoglycemia (HH) responsive to Diazoxide
Summary
Kabuki syndrome should be considered when facing neonatal persistent hypoglycemia. Diazoxide may help to improve hyperinsulinemic hypoglycemia.
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