Abstract
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by recurrent mono-neuropathies secondary to minor trauma or compression. Whilst typical episodes of palsy generally become apparent during the second and the third decades, HNPP is rarely diagnosed in the first decade. We present the case of a 6-year-old patient to draw attention to the possibility of HNPP attacks in the first decade and the importance of detailed electrophysiological examination.
MeSH terms
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Age of Onset
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Child
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Disease Progression
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Early Diagnosis
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Electrodiagnosis / instrumentation
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Electrodiagnosis / methods*
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Extremities / innervation
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Extremities / physiopathology
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Female
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Genetic Predisposition to Disease / genetics
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Heredodegenerative Disorders, Nervous System / diagnosis*
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Heredodegenerative Disorders, Nervous System / physiopathology*
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Humans
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Male
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Neural Conduction / physiology
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Peripheral Nerves / physiopathology*
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Peripheral Nervous System Diseases / congenital
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Peripheral Nervous System Diseases / diagnosis*
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Peripheral Nervous System Diseases / physiopathology*
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Predictive Value of Tests
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Pressure / adverse effects