Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report

• Authors: Anna Borkowska , Agnieszka Jankowska , Agnieszka Szlagatys-Sidorkiewicz , Beata Sztangierska , Anna Liberek , Katarzyna Plata-Nazar , Barbara Kamińska
• Languages of publication: EN

Abstracts

EN

The spinal muscular atrophy is a rare autosomal recessive genetic disease characterized by the progressive loss of muscular strength. In its natural course the disease leads to death. Diabetes mellitus type 1 is an autoimmune metabolic disorder characterized by the disturbed insulin synthesis. This is a case report of an 8-year-old girl suffering from Werdnig Hoffman disease in whom DM1 was diagnosed. The unspecific clinical manifestation and diagnostic difficulties are presented in this paper. To the authors' knowledge, this is the first publication concerning the co-existence of these two medical conditions.

Keywords

EN

Spinal muscular atrophy; diabetes mellitus; children

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2015
• Volume: 62
• Issue: 1
• Pages: 167-168

Dates

published

2015

received

2014-09-02

revised

2014-11-17

accepted

2014-11-21

online

2015-02-12

Contributors

author

Anna Borkowska

• Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition

author

Agnieszka Jankowska

• Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition

author

Agnieszka Szlagatys-Sidorkiewicz

• Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition

author

Beata Sztangierska

• Department of Pediatrics, Hematology, Oncology and Endocrinology

author

Anna Liberek

• Faculty of Health Sciences with Subfaculty of Nursing, Medical University of Gdansk, Gdańsk, Poland

author

Katarzyna Plata-Nazar

• Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition

author

Barbara Kamińska

• Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition

References

• Craig ME, Hattersley A, Donaghue KC (2009) Definition, epidemiology and classification of diabetes in children and adolescents. Pediatr Diabetes 10: 3-12.
• Daneman D (2006) Type 1 diabetes. Lancet 367: 847-858.
• Lunn MR, Wang CH (2008) Spinal muscular atrophy. Lancet 371: 2120-2133.
• Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A (2007) Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 22: 1027-1049.