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KMID : 0860920110130010038
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2011 Volume.13 No. 1 p.38 ~ p.43
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Nail Patellar Syndrome with Ulnar Neuropathy - A Case Report -
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Ko Young-A
Min Ji-Hye
Lee Won-Ihl
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Abstract
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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.
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KEYWORD
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Nail patellar syndrome , Ulnar neuropathy , Electromyography
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