Three cases of Wolfram syndrome with different clinical aspects
-
Emine Çamtosun
,
Pınar Kocaay
Abstract
Background: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.
Subjects: The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified.
Conclusion: Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.
References
1. Kumar S. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Pediatr Diabetes 2010;11:28–37.10.1111/j.1399-5448.2009.00518.xSearch in Google Scholar
2. Ganie MA, Bhat D. Current developments in Wolfram syndrome. J Pediatr Endocrinol Metab 2009;22:3–10.Search in Google Scholar
3. Kang HS, ZeRuth G, Lichti-Kaiser K, Vasanth S, Yin Z, et al. Gli-similar (Glis) Krüppel-like zinc finger proteins: insights into their physiological functions and critical roles in neonatal diabetes and cystic renal disease. Histol Histopathol 2010;25:1481–96.Search in Google Scholar
4. Saran S, Philip R, Patidar P, Gutch M, Agroiya P, et al. Atypical presentations of Wolframs syndrome. Indian J Endocrinol Metab 2012;16(Suppl 2):S504–5.10.4103/2230-8210.104148Search in Google Scholar
5. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458–63.10.1016/S0140-6736(95)92473-6Search in Google Scholar
6. Dreyer M, Rüdiger HW, Bujara K, Herberhold C, Kühnau J, et al. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases). Klin Wochenschr 1982;60:471–5.10.1007/BF01720362Search in Google Scholar
7. Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995;18:1566–70.10.2337/diacare.18.12.1566Search in Google Scholar
8. Nakamura A, Shimizu C, Nagai S, Taniguchi S, Umetsu M, et al. A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies. Diabetes Res Clin Pract 2006;73:215–7.10.1016/j.diabres.2005.12.007Search in Google Scholar
9. Swift RG, Sadler DB, Swift M. Psychiatric findings in Wolfram syndrome homozygotes. Lancet 1990;336:667–9.10.1016/0140-6736(90)92157-DSearch in Google Scholar
©2015 by De Gruyter
Articles in the same Issue
- Frontmatter
- Highlight: Diabetes
- Diabetes mellitus in children and adolescents – a global epidemic which has become neglected
- Maturity-onset diabetes of the young (MODY): an update
- Relationship of plasma level of chemerin and vaspin to early atherosclerotic changes and cardiac autonomic neuropathy in adolescent type 1 diabetic patients
- How does autoimmune thyroiditis in children with type 1 diabetes mellitus influence glycemic control, lipid profile and thyroid volume?
- Profile of mood states in adult type 1 diabetes mellitus men and women with disease onset in childhood and in adulthood
- Evaluation of fetuin-A and carotid intima-media thickness in adolescent type 1 diabetic patients
- An increasing incidence of type 1 diabetes mellitus in Romanian children aged 0 to 17 years
- Resistin and right ventricular function in children with recently diagnosed type-1 diabetes mellitus: a case control study
- Assessment of human cartilage glycoprotein 39 (YKL-40), preptin, and nitric oxide in adolescent patients with type 1 diabetes and its relation to cardiorenal affection
- The effect of a home-based strength training program on type 2 diabetes risk in obese Latino boys
- From cerebral salt wasting to diabetes insipidus with adipsia: case report of a child with craniopharyngioma
- Three years of liraglutide treatment offers continuously optimal glycemic control in a pediatric patient with maturity-onset diabetes of the young type 3
- Diabetic euglycemic ketoacidosis in newly diagnosed type 1 diabetes mellitus during Ramadan fasting
- Transient neonatal hyperinsulinism with adaptation disorders: a report of three cases
- Acute mononeuropathy in a child with newly diagnosed type 1 diabetes mellitus
- Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture
- Cognitive functioning, metabolic control, and treatment type in youth with type 1 diabetes
- Images in pediatric endocrinology
- Benefit of testosterone in pediatric genital trauma
- Original articles
- Attenuated salivary cortisol response after exercise test in children with asthma
- Reliability of pubertal maturation self-assessment in a school-based survey
- Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China
- Assessing biological maturity: chronological age and the pubertal development scale predict free testosterone in adolescent males
- Evaluation of puberty by verifying spontaneous and stimulated gonadotropin values in girls
- Longitudinal changes in C-reactive protein, proform of eosinophil major basic protein, and pregnancy-associated plasma protein-A during weight changes in obese children
- Caries in adolescents in relation to their skeletal status
- Endothelial and metabolic disorders in adolescence: low birth weight is not an isolated risk factor
- Comparison of cortisol samples in the first two weeks of life in preterm infants
- Mutations in BTD gene causing biotinidase deficiency: a regional report
- Patient reports
- Late-onset hypercalcemia in Williams-Beuren syndrome: importance of early and frequent screening and intervention
- Hepatoblastoma presenting as precocious puberty: a case report
- Three cases of Wolfram syndrome with different clinical aspects
- L-asparaginase induced hypoglycemia in a case of acute lymphoblastic leukemia: a patient report
- Pyogenic granuloma, an unusual presentation of peripubertal vaginal bleeding. Case report and review of the literature
- Octreotide-associated cholestasis and hepatitis in an infant with congenital hyperinsulinism
- Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria
- Pituitary abscess in an adolescent girl: a case report and review of the literature
- Neonatal thyrotoxicosis with severe supraventricular tachycardia: case report and review of the literature
- Consumptive hypothyroidism associated with parotid infantile hemangioma
- Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations
- Short communications
- Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia
Articles in the same Issue
- Frontmatter
- Highlight: Diabetes
- Diabetes mellitus in children and adolescents – a global epidemic which has become neglected
- Maturity-onset diabetes of the young (MODY): an update
- Relationship of plasma level of chemerin and vaspin to early atherosclerotic changes and cardiac autonomic neuropathy in adolescent type 1 diabetic patients
- How does autoimmune thyroiditis in children with type 1 diabetes mellitus influence glycemic control, lipid profile and thyroid volume?
- Profile of mood states in adult type 1 diabetes mellitus men and women with disease onset in childhood and in adulthood
- Evaluation of fetuin-A and carotid intima-media thickness in adolescent type 1 diabetic patients
- An increasing incidence of type 1 diabetes mellitus in Romanian children aged 0 to 17 years
- Resistin and right ventricular function in children with recently diagnosed type-1 diabetes mellitus: a case control study
- Assessment of human cartilage glycoprotein 39 (YKL-40), preptin, and nitric oxide in adolescent patients with type 1 diabetes and its relation to cardiorenal affection
- The effect of a home-based strength training program on type 2 diabetes risk in obese Latino boys
- From cerebral salt wasting to diabetes insipidus with adipsia: case report of a child with craniopharyngioma
- Three years of liraglutide treatment offers continuously optimal glycemic control in a pediatric patient with maturity-onset diabetes of the young type 3
- Diabetic euglycemic ketoacidosis in newly diagnosed type 1 diabetes mellitus during Ramadan fasting
- Transient neonatal hyperinsulinism with adaptation disorders: a report of three cases
- Acute mononeuropathy in a child with newly diagnosed type 1 diabetes mellitus
- Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture
- Cognitive functioning, metabolic control, and treatment type in youth with type 1 diabetes
- Images in pediatric endocrinology
- Benefit of testosterone in pediatric genital trauma
- Original articles
- Attenuated salivary cortisol response after exercise test in children with asthma
- Reliability of pubertal maturation self-assessment in a school-based survey
- Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China
- Assessing biological maturity: chronological age and the pubertal development scale predict free testosterone in adolescent males
- Evaluation of puberty by verifying spontaneous and stimulated gonadotropin values in girls
- Longitudinal changes in C-reactive protein, proform of eosinophil major basic protein, and pregnancy-associated plasma protein-A during weight changes in obese children
- Caries in adolescents in relation to their skeletal status
- Endothelial and metabolic disorders in adolescence: low birth weight is not an isolated risk factor
- Comparison of cortisol samples in the first two weeks of life in preterm infants
- Mutations in BTD gene causing biotinidase deficiency: a regional report
- Patient reports
- Late-onset hypercalcemia in Williams-Beuren syndrome: importance of early and frequent screening and intervention
- Hepatoblastoma presenting as precocious puberty: a case report
- Three cases of Wolfram syndrome with different clinical aspects
- L-asparaginase induced hypoglycemia in a case of acute lymphoblastic leukemia: a patient report
- Pyogenic granuloma, an unusual presentation of peripubertal vaginal bleeding. Case report and review of the literature
- Octreotide-associated cholestasis and hepatitis in an infant with congenital hyperinsulinism
- Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria
- Pituitary abscess in an adolescent girl: a case report and review of the literature
- Neonatal thyrotoxicosis with severe supraventricular tachycardia: case report and review of the literature
- Consumptive hypothyroidism associated with parotid infantile hemangioma
- Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations
- Short communications
- Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia
