ArticleCureus2026
Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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6 authors.
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Abstract
introductionKabuki syndrome (KS) is a rare disease predisposing to congenital hyperinsulinism (CHI). The incidence of CHI in KS may be higher than considered in practice, and appropriate management of hypoglycemia would reduce long-term neurologic morbidity in these patients. Thus, the aims of our study were to estimate the occurrence rate of CHI-related hypoglycaemia in KS, to describe its evolution, and to identify potential genotype-phenotype correlations.
methodsWe conducted a single-centre retrospective study in patients with KS from 1999 to 2024.
resultsAmong the 18 patients identified with KS included in the study, six (33%) presented neonatal hypoglycaemia, of whom five (28%) demonstrated CHI. Of these five, three had persistent CHI. Only the three patients with this condition required anti-hypoglycaemic drugs. They all responded well to diazoxide monotherapy, and one then needed the addition of octreotide. Genetically, all patients had heterozygous variants of
conclusionsThis study illustrates the importance of systematic screening for hypoglycaemia in patients with early diagnosis of KS. Conversely, newborns or infants with CHI should be considered and possibly tested for this etiological diagnosis.
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