Dejerine-Sottas disease

Classification according to ICD-10
G60.0	Hereditary sensorimotor neuropathy - Déjerine-Sottas disease
ICD-10 online (WHO version 2019)

The Dejerine-Sottas disease is one of the hereditary motor and sensory neuropathies , a group of inherited disorders of peripheral nerves. It is often referred to as HMSN type III .

Synonyms are: Déjerine-Sottas syndrome , hypertrophic neural muscular atrophy type Déjerine-Sottas , hypertrophic recessive-autosomal inherited motor-sensitive neuropathy. Charcot-Marie-Tooth disease type 3 , childhood hypertrophic neuropathy .

The disease is named after the French neurologists Joseph Jules Déjerine (1849–1917) and Jules Sottas (1866–1943), who first described it in 1893 .

distribution

It is a sporadic hereditary disease; it can be inherited as an autosomal dominant or recessive trait.,

causes

Apparently there are mutations in various genes .

Changes in several gene localizations were reported:

• MPZ gene on chromosome 1q22, which encodes the myelin protein zero
• PMP22 gene on chromosome 17p11 (Peripheral myelin protein 22)
• PRX gene, which encodes the periaxin protein,
• EGR2 gene (Early growth response protein 2)

Clinical manifestations

The clinical picture corresponds to the hereditary motor-sensitive neuropathy type I, but the disease begins earlier and is more pronounced.

Diagnostic criteria are:

• Onset in early childhood with delayed motor development (ability to walk)
• Increasing deterioration from young adulthood with loss of walking ability
• Largely symmetrical leg-stressed polyneuropathy with atrophy of the muscles in the lower leg, foot and hand with movement disorders of the hands and fingers
• Parasitic sensations, cramps, leg pain and fasciculations

In addition, there may be malformations such as clubfoot , scoliosis or funnel chest, in the course of which dystrophic disorders such as Sudeck develop.

diagnosis

In addition to canceled reflexes, there is a pronounced delay in the nerve conduction speed with considerably reduced sensory nerve potentials in electromyography .

In the cerebrospinal fluid , the protein concentration can be increased up to 2000 mg / l, however the different HMSN types cannot be differentiated on the basis of the liquid diagnosis. The extremity nerves are thickened, which can sometimes already be palpated clinically, otherwise it can be seen in MRI imaging . histologically there is pronounced hypertrophy of the Schwann cells , reduced marrow fibers with onion skin formations.

Differential diagnosis

Other forms of hereditary sensorimotor neuropathy must be distinguished .

therapy

A causal treatment is currently not known.

literature

• Peter Reuter: Springer Lexicon Medicine. Springer, Berlin a. a. 2004, ISBN 3-540-20412-1 , p. 458.

Individual evidence

1. ↑ ^{a b c d} B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .
2. ^ ^{A b} Dejerine-Sottas disease. In: Orphanet (Rare Disease Database).
3. ↑ JJ Déjerine, J. Sottas: Sur la névrite interstitielle hypertrophique et progressive de l'enfance. In: Comptes Rendus des Séances et Mémoires de la Société de Biologie. 1893, 45, pp. 63-96.
4. ^ Dejerine-Sottas disease.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ K. Hayasaka, M. Himoro, Y. Sawaishi et al: De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). In: Nature Genetics. 1993, 5 (3), pp. 266-268. doi: 10.1038 / ng1193-266 . PMID 7506095
6. ↑ BB Roa, PJ Dyck, HG Marks, PF Chance, JR Lupski: Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. In: Nature Genetics. 1993, 5 (3), pp. 269-273. doi: 10.1038 / ng1193-269 . PMID 8275092
7. ↑ D. Kabzinska, H. Drac, DL Sherman et al.: Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. In: Neurology. 2006, 66 (5), pp. 745-747. doi: 10.1212 / 01.wnl.0000201269.46071.35 . PMID 16534116
8. ↑ CF Boerkoel, H. Takashima, CA Bacino, D. Daentl, JR Lupski: EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. In: Neurogenetics. 2001, 3 (3), pp. 153-157. doi: 10.1007 / s100480100107 . PMID 11523566
9. ↑ Zettl: Clinical CSF diagnostics. Walter de Gruyter, 2004, ISBN 3-11-018169-X , p. 452.

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