Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Cardiovascular Medicine
- Forensic and Legal Medicine
- Psychiatry and Mental Health
- Internal Medicine
- Physiology
- Palliative Care
- Surgery Cases
- Cardiac Surgery
Abstract
Citation: Ann Clin Case Rep. 2016;1(1):1200.DOI: 10.25107/2474-1655.1200
Diabetic Foot Syndrome and Anaplerotic Therapy in a Long-Surviving Patient with Leprechaunism (Donohue Syndrome)
Bergis Dominik, Böhles Hans and Badenhoop Klaus
Division of Endocrinology and Diabetes, Department of Internal Medicine, Goethe-University Hospital, Germany
Department of Pediatrics, Goethe-University Hospital, Germany
*Correspondance to: Bergis Dominik
PDF Full Text Case Report | Open Access
Abstract:
Background: Donohue syndrome (DS), also known as Leprechaunism, describes a rare form of congenital insulin resistance associated with refractory hyperglycemia, hyperinsulinism and severe, characteristic musculoskeletal deformities and facial dysmorphia. Prognosis of DS is poor and most individuals die early in infancy.Case Report: We report a long-surviving male patient with Donohue syndrome suffering from diabetic foot lesions at the age of 13. Long survival was most likely in part related to anaplerotic therapy containing aspartate and citrate – two citric acid cycle intermediate metabolites missing in DS. When first seen in our outpatient clinic, the boy had several ulcers on the heel, the forefoot and lower leg. Conventional treatment with off-loading, wound debridement and antibiotic therapy was initiated. After 12 weeks, ulcers had resolved almost completely – despite insufficient glycemic control.Discussion: The nutritional concept of anaplerotic therapy has never been reported in DS before and may be crucial in order to aim at prolonged survival as long as better treatment options are not available. Long term diabetic complications such as diabetic foot syndrome have not been observed in DS yet, but must be expected when patients survive infancy.
Keywords:
Diabetic foot; Nutrition and diet; Neuropathy; Insulin sensitivity
Cite the Article:
Dominik B, Hans B, Klaus B. Diabetic Foot Syndrome and Anaplerotic Therapy in a Long-Surviving Patient with Leprechaunism (Donohue Syndrome). Ann Clin Case Rep. 2016; 1: 1200.