The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
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Maria Melikyan
,
Diliara Gubaeva
Abstract
Objectives
Congenital hyperinsulinism (CHI) is a group of rare genetic disorders characterized by insulin overproduction. CHI causes life-threatening hypoglycemia in neonates and infants. Bloom syndrome is a rare autosomal recessive disorder caused by mutations in the BLM gene resulting in genetic instability and an elevated rate of spontaneous sister chromatid exchanges. It leads to insulin resistance, early-onset diabetes, dyslipidemia, growth delay, immune deficiency and cancer predisposition. Recent studies demonstrate that the BLM gene is highly expressed in pancreatic islet cells and its mutations can alter the expression of other genes which are associated with apoptosis control and cell proliferation.
Case presentation
A 5-month-old female patient from consanguineous parents presented with drug-resistant CHI and dysmorphic features. Genetic testing revealed a homozygous mutation in the KCNJ11 gene and an additional homozygous mutation in the BLM gene. While 18F-DOPA PET scan images were consistent with a focal CHI form and intraoperative frozen‐section histopathology was consistent with diffuse CHI form, postoperative histopathological examination revealed features of an atypical form.
Conclusions
In our case, the patient carries two distinct diseases with opposite metabolic phenotypes.
Funding source: Charity Aid Foundation Russia
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Research funding: This study (genetic testing and 18F-DOPA PET scanning) was supported by Charity Aid Foundation Russia.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. Maria Melikyan and Diliara Gubaeva designed the study, referred the patient and wrote the manuscript. Irina Nikitina provided clinical information and reviewed the manuscript. Daria Ryjkova performed and analyzed the 18F-DOPA PET and reviewed the manuscript. Daria Yukhacheva, Dmitry Pershin and Anna Shcherbina provided clinical information and reviewed the manuscript. Liubov Mitrofanova, Alexandra Proshchina and Yuliya Krivova performed histological and immunohistochemical studies and reviewed the manuscript. Evgeny Vasilyev did the genetic testing and variant analysis. Anatoly Tiulpakov analyzed the genetic results, reviewed and edited the manuscript. All authors contributed to the discussion and reviewed or edited the manuscript.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Our patient’s parents gave informed consent for the genetic testing reported in this paper and for the publication of related data and child’s photos.
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Ethical approval: This study was approved by the Local Ethics Committee at the Endocrinology research centre. The research was conducted ethically in accordance with the World Medical Association Declaration of Helsinki.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review Article
- Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management
- Original Articles
- Weight changes of children in 1 year during COVID-19 pandemic
- Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
- Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay
- Hyperinsulinemic hypoglycemia in growth restricted convalescent preterm neonates: clinical characteristics and impediments to early diagnosis
- Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
- The prevalence of incidental finding of gynecomastia on thoracic computed tomography in the pediatric age group
- The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou
- Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
- A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
- A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts
- Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
- Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
- Short Communication
- Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
- Case Reports
- 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
- The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
- Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
- Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
Articles in the same Issue
- Frontmatter
- Review Article
- Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management
- Original Articles
- Weight changes of children in 1 year during COVID-19 pandemic
- Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
- Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay
- Hyperinsulinemic hypoglycemia in growth restricted convalescent preterm neonates: clinical characteristics and impediments to early diagnosis
- Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
- The prevalence of incidental finding of gynecomastia on thoracic computed tomography in the pediatric age group
- The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou
- Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
- A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
- A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts
- Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
- Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
- Short Communication
- Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
- Case Reports
- 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
- The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
- Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
- Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
