Thevenard’s Disease - a hereditary sensory and autonomic neuropathy type I / Thevenardova bolest - nasledna, senzorna i autonomna neuropatija tipa I

Nikolić, Borut; Mišović, Milan; Zorić, Miodrag; Matović, Dušica; Aleksić, Aleksandra

doi:10.2478/v10249-011-0023-y

Abstract

Thevenard’s Disease is a rare, hereditary sensory and autonomic neuropathy which leads to hyperkeratotyc and ulcerative lesions of the feet. We present two patients, a father and son, 39 and 18 years of age, in whom the disease first manifested in adolescence. Plantar hyperkeratosis and trophic, painless ulcerations occurred first, with subsequent feet deformities. Neurological and radiological findings pointed to chronic demyelination, polyneuropathy with damage to sensory fibers. Differential diagnosis and treatment options are discussed

References

1. Nelaton A. Assection singuliere des os du pied. Gaz Hop Civ Milit 1852;4:13.
Search in Google Scholar
2. Thevenard A. L’acropathie ulcero-mutilante familiale. Rev Neurol 1942;74:193-212.
Search in Google Scholar
3. Dyck P, Chance P, Lebo R, Carney J. Hereditary motor and sensory neuropathies. In: Dyck PJ, Griffin JW, Low P, Poduslo JF, eds. Peripheral neuropathy. 3rd ed. Philadelphia: WB Saunders; 1993. p. 1094-136.
Search in Google Scholar
4. Houlden H, King R, Blake J, Groves M, Love S, Woodward C, et al. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type I (HSAN I). Brain 2006; 129(2):411-25.10.1093/brain/awh71216364956
Search in Google Scholar
5. Nicholson GA, Dawins JL, Blair IP, Kenerson ML, Gordon MJ, Cherryson AK, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q 22.1 - q 22.3. Nat Genet 1996;13:101-4.10.1038/ng0596-1018673084
Search in Google Scholar
6. Verhoeven K, Coen K, de Vriendt E, Jacobs A, Van Gerwen V, Smout I, et al. SPTCLC 1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology 2004;62:1001-2.10.1212/01.WNL.0000115388.10828.5C15037712
Search in Google Scholar
7. Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, et al. SPTLC 1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 2001;27:261-2.10.1038/8581711242106
Search in Google Scholar
8. Dawkins JL, Hulme DJ, Brohmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC 1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type 1. Nat Genet 2001;27:309-12.10.1038/8587911242114
Search in Google Scholar
9. Klein CJ,Wu J, Kruckeberg KF, Hebring SJ, Anderson SA, Cuningham SJ, et al. SPTLC 1 and RAB 7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies. J Neurol Neurosurg Psychiatry 2005;76:1022-4.10.1136/jnnp.2004.050062173973015965219
Search in Google Scholar
10. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. Philadelphia: WB Saunders; 1933. p. 1065-93.
Search in Google Scholar
11. Houlden H, Blacke J, Reilly MM. Hereditary sensory neuropathies. Curr Opin Neurol 2004;17: 569-77.10.1097/00019052-200410000-0000715367861
Search in Google Scholar
12. Kok C, Kennerson ML, Spring PJ, Ing AJ, Pollard JD,Nicholson GA. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p 22 - p 24. Am J Hum Genet 2003;73:632-7.10.1086/377591118068712870133
Search in Google Scholar
13. Bosch P, Smith B. Disorders of peripheral nerves. In: Bradley WG, Danoff R, Fenichel G, Marsden D, eds. Neurology in clinical practice. 3rd ed. Guilford: Butterworth Heinemann; 2000. p. 2069-71.
Search in Google Scholar
14. Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O‘Driscoll M, Brais B, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-73.10.1086/420795118197015060842
Search in Google Scholar
15. Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, et al. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology 2006;66:748-51.10.1212/01.wnl.0000201191.57519.4716534117
Search in Google Scholar
16. Riley CM, Day RL, Greeley DMcl, Langford WS. Central autonomic disfunction with defective lacrimation. Pediatrics 1949;3:468-77.10.1542/peds.3.4.468
Search in Google Scholar
17. Axelrod FB. Familial dysautonomia. Muscle Nerve 2004;29:352-63.10.1002/mus.10499
Search in Google Scholar
18. Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996;13:485-8.10.1038/ng0896-485
Search in Google Scholar
19. Nolano M, Crisci C, Santoro L, Barbieri F, Casale R, Kennedy WR, et al. Absent inervation of skin and sweatglands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000;111:1596-601.10.1016/S1388-2457(00)00351-5
Search in Google Scholar
20. Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, MsDonald JW, Litchy W, et al. Not ”indifference to pain” but varietes of hereditary sensory and autonomic neuropathy. Brain 1983;106:373-90.10.1093/brain/106.2.3736189547
Search in Google Scholar
21. Einarsdottir E, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, et al. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Molec Genet 2004;13:799-805.10.1093/hmg/ddh09614976160
Search in Google Scholar
22. Jacob A, Savada C, Thomas SV. Painless injuries in child: Hereditary sensory and autonomic neuropathy. Ann Indian Acad Neurol 2006;9:39-41. 10.4103/0972-2327.22821
Search in Google Scholar

Thevenard’s Disease - a hereditary sensory and autonomic neuropathy type I / Thevenardova bolest - nasledna, senzorna i autonomna neuropatija tipa I

Abstract

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