ESPE Abstracts

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from leucodystrophy, microcephaly, convulsions, severe psychomotor retardation and hepatopathy. He manifested at the age of 7 years with hyperglycemic-hyperosmolar coma (glucose 925 mg/dl, HbA1c 7.3%, c-peptide 9 ng/ml, serum osmolarity 345 mosm/kg, pH 7.4). Blood glucose was lowered slowly with small amounts of insulin and rehydration during several days. The final therapy consisted of regular insulin administered to the feeding by tube. The second girl was also known with progeria syndrome, severe coronary arterial disease and hyporegenerative anemia with regular transfusions. During routine controls the diagnosis of diabetes type 2 was made with glucose 324 mg/dl, HbA1c 8.6%, c-peptide 20 ng/ml and insulin 500 mU/l. Due to the severe course of the disease and after discussion with the parents, no specific therapy was started as the patient was in a palliative state. Both children are deceased in the meantime. Regular screening for diabetes type 2 should be installed early in life in children with progeria syndroms including blood glucose and HbA1c measurements and oral glucose tolerance testing to avoid severe and life threatening manifestation. Early therapy with metformin might have a positive effect on metabolic control and the clinical course in children with progeria syndromes.