ArticleItalian journal of pediatrics2020
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.
Article in Italian journal of pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 46 citations in OpenAlex.
- Article
- Congenital cytomegalovirus infection and brain injury in a newborn following maternal non-primary infection: case report of an unexpected diagnosis.Italian journal of pediatrics · 2025Article
- Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum.Global medical genetics · 2025Article
- Effects of perinatal variables on echocardiographic assessments of left ventricular dimensions in infants born large for gestational age: a prospective cohort analysis.Italian journal of pediatrics · 2025Article
- Increased PLAGL1 Gene Methylation in Cord Blood is Positively Correlated with Brain Injury in Chorioamniotic Preterm Infants.Biochemical genetics · 2025Article
- Article
- KBG syndrome: report and follow-up on three unrelated patients observed at different ages.Italian journal of pediatrics · 2025Article
- A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications.Italian journal of pediatrics · 2025Article
- Case report: Kabuki syndrome and persistent hypoglycemia in neonates.Journal of family medicine and primary care · 2024Article
- Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.Italian journal of pediatrics · 2024Article
- Catheters linked thrombosis in neonates: a single center observational study.Italian journal of pediatrics · 2024Observational
- Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome.Italian journal of pediatrics · 2024Article
- Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.Italian journal of pediatrics · 2024Article
- Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.Italian journal of pediatrics · 2024Article
- Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.BMC pediatrics · 2024Article
- Report and follow-up on two new patients with congenital mesoblastic nephroma.Italian journal of pediatrics · 2023Article
- A young-onset type 2 diabetic Chinese girl with familial renal glycosuria caused by a novel mutation in SLC5A2: A case report.Journal of diabetes · 2023Article
- Pediatricians' awareness of galenic drugs for children with special needs: a regional survey.Italian journal of pediatrics · 2023Article
- Targeted next-generation sequencing determined a novelClinical case reports · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 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.
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.