Literature DB >> 15253057

Hereditary sensory neuropathy with spastic paraplegia.

Louisa Kherbaoui-Redouani1, Dominique Ploton, Michel Abely, Nathalie Bednarek, Audrey Stourbe, Pascal Sabouraud, Jacques Motte.   

Abstract

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.

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Year:  2004        PMID: 15253057     DOI: 10.1016/j.ejpn.2003.12.006

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  3 in total

1.  Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

Authors:  A Bouhouche; A Benomar; N Bouslam; T Chkili; M Yahyaoui
Journal:  J Med Genet       Date:  2006-01-06       Impact factor: 6.318

Review 2.  Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature.

Authors:  D P Ashwin; G D Chandan; Handa Kaur Jasleen; G C Rajkumar; K B Rudresh; R Prashanth
Journal:  Oral Maxillofac Surg       Date:  2015-03-06

3.  Proprioceptive neuropathy affects normalization of the H-reflex by exercise after spinal cord injury.

Authors:  Karen Ollivier-Lanvin; Benjamin E Keeler; Rachel Siegfried; John D Houlé; Michel A Lemay
Journal:  Exp Neurol       Date:  2009-11-11       Impact factor: 5.330

  3 in total

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