De Grouchy Syndrome: An Unusual Presentation of Severe Short Stature in Type 1 Diabetic Children: A Case Study

Abstract

Diabetes mellitus type 1 (DM1) is associated with different clinical syndromes. Some are commonly encountered, like Turner's syndrome, while others are rarely found in clinical practice, namely, De Grouchy syndrome. This is a rare genetic disorder characterised by micro deletions in the short arm of the chromosome 18. There are many contributing factors for a retarded growth in a diabetic child, for example, poor glycaemic control, associated thyroid disease, celiac disease, and an unusual one is de Grouchy syndrome.  In the present article, we reported an isolated case of 18p deletion in a 6-year-old female who for the first time reported to the hospital for diabetes mellitus type 1. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities. The aim of this case report is to increase the awareness about one of the genetic syndromes associated with diabetes mellitus. As the clinical features of de-grouchy syndrome is quite variable, it's presentation warrants prompt diagnosis for effective management, especially when associated with life threatened conditions, such as type 1 diabetes mellitus, special in need and severe growth retardation. Furthermore, genetic counseling for such patients and their families should be considered as a part of treatment itself.