Syndromic Causes of Congenital Hyperinsulinism

Kalish, Jennifer M.; Arnoux, Jean‐Baptiste

doi:10.1007/978-3-030-02961-6_4

Cited by 1 publication

(1 citation statement)

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“…A gradually increasing dose approach was preferred in our preterm patient in light of the high risk of ductus arteriosus dilatation and necrotizing enterocolitis in preterm neonates that could have a contributory effect (like perinatal stress, or intestinal malformation) [28,29]. A standard length of diazoxide treatment has not been well established, and often appears to resolve during the first decade of life, since the individual response is dependent of the interaction of several conditions [30]. Cerebellar vermis hypoplasia and nodular heterotopia could be related to functional inhibition of neural crest development by KMT2D loss-of- function as recently reported suggesting that KS could be a neurocristopathy [31].…”

Section: Discussionmentioning

confidence: 99%

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

et al. 2020

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Background Persistent 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 presentation We 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. Conclusions Kabuki 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.

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