Congenital heart disease in adolescents with gluteal muscle contracture.

Gluteal muscle contracture (GMC), presented with hip abduction and external rotation when crouching, is common in several ethnicities, particularly in Chinese. It remains unclear that the reasons why these children are weak and have no choice to accept repeated intramuscular injection. Here, we found some unique cases which may be useful to explain this question. We describe a series of special GMC patients, who are accompanied with congenital heart disease (CHD). These cases were first observed in preoperative examinations of a patient with atrial septal defect (ASD), which was proved by chest X-ray and cardiac ultrasound. From then on, we gradually identified additional 3 GMC patients with CHD. The original patient with ASD was sent to cardiosurgery department to repair atrial septal first and received arthroscopic surgery later. While the other 3 were cured postoperative of ventricular septal defect (VSD), tetralogy of fallot (TOF), patent ductus arteriosus (PDA), respectively, and had surgery directly. The study gives us 3 proposals: (1) as to CHD children, it is essential to decrease the use of intramuscular injection, (2) paying more attention to cardiac examination especially cardiac ultrasound in perioperative period, and (3) taking 3D-CT to reconstruct gluteal muscles for observing contracture bands clearly in preoperation. However, more larger series of patients are called for to confirm these findings.

A new mitochondrial mutation in a patient with diabetes mellitus, deafness, hydronephrosis and joint contractures.

A 28-year-old man presented with multiple flexion contractures of hands and feet, deafness, diabetes mellitus and obstructive nephropathy because of bilateral ureterovesicular stricture. Other prominent clinical findings were short stature, bilateral proptosis, multiple freckles and sacralisation of LS. In order to investigate the role of mitochondrial mutations in various clinical manifestations observed in this patient, we performed mutation screening of 1.6 kb mtDNA around the tRNA (Leu(UUR)) part of 16SrRNA and the ND1 gene. No mutation was present at position 3243 which is associated with diabetes mellitus and deafness. A new point mutation (A/G) at position 4093 of the ND1 gene was found. In conclusion, we found a novel mitochondrial mutation in a patient with diabetes and deafness. This mutation has not been reported before and is the first mutation described in the ND1 gene which is related to insulin dependent diabetes mellitus and deafness and could be specific to the Iranian population. All other unusual clinical findings in this patient can be attributed to the presence of this new mutation.