J Korean Assoc EMG Electrodiagn Med Search


J Korean Assoc EMG Electrodiagn Med 2011;13(1):38-43.
Published online June 1, 2011.
Nail Patellar Syndrome with Ulnar Neuropathy - A Case Report -
Nail patella syndrome (NPS) is a rare autosomal dominant disorder, caused by mutations in the LMX1B gene. The classical tetrad of NPS is dysplasias of nails, knees, elbows, and the presence of iliac horns. In our case, a 19-year old man complained intermittent fasciculation on his upper arm, subjective post exercise weakness and tingling sensation on his left hand. He was thought to have some form of muscular dystrophy because of proximal muscle atrophy and broad forehead. Electrodiagnostic study didn’t show any evidence of muscular dystrophy, but evidence of ulnar neuropathy around the elbow. In additional physical and radiologic evaluation, he had patellar hypoplasia, nail dysplasia, radial head dysplasia, and both iliac horns. He was diagnosed as NPS, clinically and genetically. We concluded that the possibility complications such as ulnar neuropathy, related to musuloskeletal abnormality should be considered in NPS. We reported this case with a brief review of the related literatures.
Key Words: Nail patellar syndrome, Ulnar neuropathy, Electromyography


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