Nail-patella syndrome associated with respiratory chain disorder

Nail-patella syndrome (NIPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typ ical phenotype of an NPS, weakness and wasting of the shoulder girdle muscl es, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kin ase elevation were observed. Echocardiography revealed left ventricular hyp ertrabeculation. Needle electromyography was myopathic, lactate stress test ing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demo nstrates that NIPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order n ot to overlook a double trouble partially mimicking NPS. Copyright (C) 2001 S. Karger AG, Basel.