Congenital hyperinsulinism as a part of Kabuki syndrome
https://doi.org/10.14341/probl13145
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.
About the Authors
A. R. Benina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anastasia R. Benina.
11 Dm. Ulyanova street, 117036 Moscow.
Competing Interests:
None
M. A. Melikyan
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Maria Melikyan - MD, PhD.
Moscow.
SPIN-код: 4184-4383
Competing Interests:
None
References
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8. Zarate YA, Zhan H, Jones JR. Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation. Mol Syndromol. 2012;3(4):180-184. doi: https://doi.org/10.1159/000342253
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Supplementary files
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1. Figure 1. A — Patient 1's hands (palmar surface). Brachydactyly, "fetal" fingertips, striated palms are noted. B — hands of patient 1. | |
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2. Figure 2A. Photo of the patient 2. Dysembryogenesis stigmas: long filter, protruding cupped auricles. | |
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3. Figure 2B. Photo of the patient 2. Stigmas of disembryogenesis: protruding cup-shaped auricles. | |
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Review
For citations:
Benina A.R., Melikyan M.A. Congenital hyperinsulinism as a part of Kabuki syndrome. Problems of Endocrinology. 2022;68(5):91-96. (In Russ.) https://doi.org/10.14341/probl13145
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