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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Hereditary sensory neuropathy with spastic paraplegia.

We report the case of a 4-year-old boy with hereditary sensory neuropathy manifesting as insensitivity to pain in all four limbs and associated with spastic paraplegia. The patient was referred with multiple injuries to his fingers suggestive of self-mutilation and attributed to psychiatric disturbance. Clinical examination corrected the diagnosis by revealing insensitivity to pain in all four limbs, associated with spastic paraplegia. The histamine test reaction was positive, nerve biopsy and electrophysiological investigations confirmed sensory nerve involvement and the diagnosis of hereditary sensory neuropathy. Classification and treatment of such rare diseases is difficult and a multidisciplinary approach is often necessary.[1]

References

  1. Hereditary sensory neuropathy with spastic paraplegia. Kherbaoui-Redouani, L., Ploton, D., Abely, M., Bednarek, N., Stourbe, A., Sabouraud, P., Motte, J. Eur. J. Paediatr. Neurol. (2004) [Pubmed]
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