Hereditary sensitive neuropathy type i M89.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Acrodystrophy primary neuropathic; Acroosteolysis familial; Acroosteopathy ulcero-mutilans familiaris; Congenital sensory neuropathy; Familial acroosteolysis; Hereditary Sensitive Neuropathy Type I; HSN Type I; Nélaton syndrome; Neuropathy congenital sensory; OMIM 162400; OMIM 613640; primary neuropathic acrodystrophy; Thevenard's disease; Thévenard's disease; Thevenard Syndrome; Thévenard Syndrome

History
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Nelaton, 1852; Thévenard, 1942

Definition
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Degeneration of the peripheral nerves of the posterior spinal cord roots of unknown cause with consecutive polyneuropathy and appearance of painless, deep ulcerations on feet and hands.

Etiopathogenesis
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Autosomal dominant inheritance, low penetrance, variable expressivity. Among other things, mutations at the 9q22 gene locus (SPTLC1 gene) are discussed, which lead to defects of the enzyme serine-palmitoyltransferase (SPT). Other families have been associated with mutations at the 3q13-22 gene locus.

Manifestation
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2nd to 3rd decade of life, rarely in childhood. Male sex preferred.

Localization
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Lower extremities, less pronounced also upper extremities.

Clinical features
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Symmetrically arranged, stocking-shaped sensory disturbances for pain, temperature and touch, occasionally pyramid signs (Babinski positive). Often weakened tendon reflexes. Painless ulcers, initially mostly on one side, later on both sides, especially in areas under pressure. Acrocyanosis and swelling of fingers and toes. Acroosteolyses, osteoporosis, possibly muscular atrophies, flat feet, splayfeet.

Differential diagnosis
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Syringomyelia, Acropathia ulcero-mutilans non-familiaris, Tabes dorsalis, leprosy, polyneuropathies (alcohol, diabetes mellitus, vitaminB1 deficiency); HSN type II;

Therapy
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Symptoms: Avoidance of local mechanical stimuli and pressure points (e.g. orthopaedic shoes), instruction for daily detailed self-examination for the smallest injuries, treatment of the ulcers with anti-infectious and wound healing promoting substances, see below wound treatment. Cooperation with neurologists and orthopaedic surgeons.

Progression/forecast
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Slowly progressive course, usually relatively benign (no pronounced mutilations).

Literature
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  1. Auer-Grumbach M et al (2003) Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol 60: 329-334
  2. Auer-Grumbach M et al (2000) Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 54: 45-52
  3. Bejaoui K et al (2002) Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest 110: 1301-1308
  4. Bejaoui K et al (1999) Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosomes 9q22 Neurology 52: 510-515
  5. Bockers M et al (1989) Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family. J Am Acad Dermatol 21: 736-739
  6. Gable K et al (2002) Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. J Biol Chem 277: 10194-10200
  7. Child R (1976) On the syndrome of acroosteopathy ulcero-mutilans Thévenard. Z Hautkr 51: 927-932
  8. Nélaton A (1852) Affection singulière des os du pied. Gazette des hôpitaux, (Paris) 4: 13
  9. Thévenard A (1942) L'acropathie ulcéro-mutilante familiale. Rev Neurol (Paris) 74: 193-212

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Last updated on: 29.10.2020