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

Anna Borkowska; Agnieszka Jankowska; Agnieszka Szlagatys-Sidorkiewicz; Beata Sztangierska; Anna Liberek; Katarzyna Plata-Nazar; Barbara Kamińska

doi:10.18388/abp.2014_883

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

Anna Borkowska Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition.;
Agnieszka Jankowska Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition.;
Agnieszka Szlagatys-Sidorkiewicz Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition.;
Beata Sztangierska Department of Pediatrics, Hematology, Oncology and Endocrinology.;
Anna Liberek Faculty of Health Sciences with Subfaculty of Nursing, Medical University of Gdansk, Gdańsk, Poland.;
Katarzyna Plata-Nazar Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition.;
Barbara Kamińska Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition.;

DOI: https://doi.org/10.18388/abp.2014_883

Abstract

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.

Published

2015-02-12

Issue

Vol. 62 No. 1 (2015)

Section

Articles

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