1. [Congenital hyperinsulinism as a part of Kabuki syndrome].
- Author
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Benina AR and Melikyan MA
- Subjects
- Child, Humans, Vestibular Diseases complications, Vestibular Diseases diagnosis, Vestibular Diseases genetics, Hematologic Diseases complications, Hematologic Diseases diagnosis, Hematologic Diseases genetics, Abnormalities, Multiple genetics, Abnormalities, Multiple diagnosis, Congenital Hyperinsulinism complications, Congenital Hyperinsulinism diagnosis, Congenital Hyperinsulinism genetics
- Abstract
Kabuki syndrome is a rare hereditary disease characterized by distinctive facial features, skeletal abnormalities, mental retardation, developmental delay, and anomalies in multiple organ systems development.Congenital hyperinsulinism is a rare manifestation of his Kabuki syndrome. However, early diagnosis is crucial to prevent neurological complications of hypoglycemia.There are 2 types of Kabuki Syndrome depending on severity of symptoms. Kabuki syndrome Type 1 is associated with heterozygous mutations in gene KMT2D. Kabuki syndrome Type 2 is inherited in an X-linked manner. It's associated with heterozygous mutations in gene KDM6A and characterized by more severe course of the disease.This paper presents 2 cases of children with congenital hyperinsulinism as the feature of Kabuki syndrome Type 1 and Type 2.
- Published
- 2022
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