A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years
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Rapeepun Chai-udom
Abstract
Mauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11. She was initially treated successfully with glipizide at a dose of 0.85 mg/kg/day but after being lost to follow-up and having improper adjustment in dose over many years, the recent dose of 0.6 mg/kg/day appears to have been insufficient for glycemic control but enough to maintain a low level of C-peptide and prevent diabetic ketoacidosis. With proper insulin administration, all presenting clinical characteristics were resolved within 1 month. A review of the literature relating to clinical manifestations of Mauriac syndrome in children with diabetes was performed and included in this report for comparison with our patient. While Mauriac syndrome has been traditionally associated with T1DM, the presence of Mauriac syndrome should not be excluded in other types of diabetes mellitus.
Acknowledgements
The authors gratefully acknowledge the patient, parents and all pediatric residents and fellows at King Chulalongkorn Memorial Hospital for providing exceptional patient care.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2016 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
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- A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature
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- Seroprotection status of hepatitis B and measles vaccines in children with type 1 diabetes mellitus
- Prevalence and awareness of functional and structural foot abnormalities in children and adolescents with type 1 diabetes
- WHO European Childhood Obesity Surveillance Initiative in Serbia: a prevalence of overweight and obesity among 6–9-year-old school children
- Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
- In children with autoimmune thyroid diseases the association with Down syndrome can modify the clustering of extra-thyroidal autoimmune disorders
- Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age
- Referral pattern of children with short stature to a pediatric endocrine clinic in Kuwait
- Factors associated with post-menarcheal growth: results of a longitudinal study in Chilean girls from different socioeconomic statuses
- Percentiles for anthropometric measures in Iranian children and adolescents: the CASPIAN-IV study
- Hormone disorder and vitamin deficiency in attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs)
- Case Reports
- Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
- Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings
- A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years
- Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases
- A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
Artikel in diesem Heft
- Frontmatter
- Review
- A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature
- Original Articles
- Seroprotection status of hepatitis B and measles vaccines in children with type 1 diabetes mellitus
- Prevalence and awareness of functional and structural foot abnormalities in children and adolescents with type 1 diabetes
- WHO European Childhood Obesity Surveillance Initiative in Serbia: a prevalence of overweight and obesity among 6–9-year-old school children
- Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
- In children with autoimmune thyroid diseases the association with Down syndrome can modify the clustering of extra-thyroidal autoimmune disorders
- Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age
- Referral pattern of children with short stature to a pediatric endocrine clinic in Kuwait
- Factors associated with post-menarcheal growth: results of a longitudinal study in Chilean girls from different socioeconomic statuses
- Percentiles for anthropometric measures in Iranian children and adolescents: the CASPIAN-IV study
- Hormone disorder and vitamin deficiency in attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs)
- Case Reports
- Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
- Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings
- A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years
- Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases
- A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
