[DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome]

Authors highlight the difficulties of syndrome identification through reporting the first case of DOOR syndrome in Hungary (the 28th case worldwide). The awareness and appropriate weighing of the importance of vestigial nails (onychodystrophy) was crucial for the correct diagnosis. Based on the normal level of 2-oxoglutarate excretion, the patient can be categorized as type 2. This is associated with better survival, which does not mean a substantial difference in quality of life. Although, prenatal diagnosis is not possible at present, knowledge of the enzyme defect and detection of the reduced activity of the 2-oxoglutarate dehydrogenase E1 component may provide an opportunity. If parents opt to have another child, a 25% risk is to be taken into account.