A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the ma...

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Autores principales:	Mina Mısırlıgil, Yılmaz Yıldız, Onur Akın, Sevinç Odabaşı Güneş, Mutluay Arslan, Bülent Ünay
Formato:	article
Lenguaje:	EN
Publicado:	Galenos Yayincilik 2021
Materias:	diazoxide hyperinsulinemic hypoglycemia kabuki syndrome kmt2 kdm6a Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/027c57406003485e89453a93e2924fd3
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spelling	oai:doaj.org-article:027c57406003485e89453a93e2924fd32021-11-26T06:10:17ZA Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome1308-57271308-573510.4274/jcrpe.galenos.2020.2020.0065https://doaj.org/article/027c57406003485e89453a93e2924fd32021-12-01T00:00:00Z http://www.jcrpe.org/archives/archive-detail/article-preview/a-rare-cause-of-hyperinsulinemic-hypoglycemia-kabu/40061 https://doaj.org/toc/1308-5727https://doaj.org/toc/1308-5735Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the majority of KS patients who present with hypoglycemia, KDM6A is the defective gene. A 9-month old girl was admitted to our emergency department due to a seizure. On physical examination, hypotonia, mild facial dysmorphism, brachydactyly of the 5th finger, prominent finger pads and pansystolic murmur were detected. A fasting glucose tolerance test was performed the next day due to her history of hypoglycemia, but she had convulsions at the fifth hour of the test. Her serum glucose was 24 mg/dL, insulin 1.94 mIU/L, C-peptide 0.94 ng/mL, growth hormone 11 ng/mL, anti-insulin antibody 4.2 IU/mL, cortisol 19.8 μg/dL, and adrenocorticotropic hormone 9.3 pg/mL. A diagnosis of hyperinsulinemic hypoglycemia was considered. Given the abnormalities, genetic analysis for congenital hyperinsulinism, including the genes causing KS was performed. A heterozygous frameshift mutation (c.2579del, p.Leu860Argfs*70) was detected in the KMT2D gene. Epilepsy and other neurological symptoms may be seen in KS patients and in some of these the neurological symptoms are the result of hypoglycemia. In such cases, the detection and prevention of hypoglycemia can help prevent the progression of neurological symptoms. We suggest considering the diagnosis of KS for patients with hypoglycemia and dysmorphic features, even if the patient does not manifest all features of KS.Mina MısırlıgilYılmaz YıldızOnur AkınSevinç Odabaşı GüneşMutluay ArslanBülent ÜnayGalenos Yayincilikarticlediazoxidehyperinsulinemic hypoglycemiakabuki syndromekmt2kdm6aPediatricsRJ1-570Diseases of the endocrine glands. Clinical endocrinologyRC648-665ENJCRPE, Vol 13, Iss 4, Pp 452-455 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	diazoxide hyperinsulinemic hypoglycemia kabuki syndrome kmt2 kdm6a Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	diazoxide hyperinsulinemic hypoglycemia kabuki syndrome kmt2 kdm6a Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Mina Mısırlıgil Yılmaz Yıldız Onur Akın Sevinç Odabaşı Güneş Mutluay Arslan Bülent Ünay A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
description	Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the majority of KS patients who present with hypoglycemia, KDM6A is the defective gene. A 9-month old girl was admitted to our emergency department due to a seizure. On physical examination, hypotonia, mild facial dysmorphism, brachydactyly of the 5th finger, prominent finger pads and pansystolic murmur were detected. A fasting glucose tolerance test was performed the next day due to her history of hypoglycemia, but she had convulsions at the fifth hour of the test. Her serum glucose was 24 mg/dL, insulin 1.94 mIU/L, C-peptide 0.94 ng/mL, growth hormone 11 ng/mL, anti-insulin antibody 4.2 IU/mL, cortisol 19.8 μg/dL, and adrenocorticotropic hormone 9.3 pg/mL. A diagnosis of hyperinsulinemic hypoglycemia was considered. Given the abnormalities, genetic analysis for congenital hyperinsulinism, including the genes causing KS was performed. A heterozygous frameshift mutation (c.2579del, p.Leu860Argfs*70) was detected in the KMT2D gene. Epilepsy and other neurological symptoms may be seen in KS patients and in some of these the neurological symptoms are the result of hypoglycemia. In such cases, the detection and prevention of hypoglycemia can help prevent the progression of neurological symptoms. We suggest considering the diagnosis of KS for patients with hypoglycemia and dysmorphic features, even if the patient does not manifest all features of KS.
format	article
author	Mina Mısırlıgil Yılmaz Yıldız Onur Akın Sevinç Odabaşı Güneş Mutluay Arslan Bülent Ünay
author_facet	Mina Mısırlıgil Yılmaz Yıldız Onur Akın Sevinç Odabaşı Güneş Mutluay Arslan Bülent Ünay
author_sort	Mina Mısırlıgil
title	A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
title_short	A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
title_full	A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
title_fullStr	A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
title_full_unstemmed	A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
title_sort	rare cause of hyperinsulinemic hypoglycemia: kabuki syndrome
publisher	Galenos Yayincilik
publishDate	2021
url	https://doaj.org/article/027c57406003485e89453a93e2924fd3
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A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

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