Rezidivierende Muskellähmungen

Zusammenfassung

Rezidivierende Muskellähmungen geben oft Anlass zu einer ausgedehnten apparativen Diagnostik. Ein 14-jähriger Junge wurde mit Paresen im Bizeps- und Fußheberbereich nach Bagatelltrauma vorgestellt. Familienanamnestisch fielen rezidivierende passagere Lähmungen beim Kindesvater auf. Die Elektroneuro- und Elektromyographie (EMG/ENG) zeigten eine peripher-neurogene Schädigung. In der genetischen Untersuchung konnte mit dem Nachweis einer Deletion im Bereich des Peripheren Myelin Protein 22-Gens (PMP22) in der chromosomalen Region 17p11.2 der klinische Verdacht auf eine HNPP (hereditary neuropathy with liability to pressure palsies) bestätigt werden. Eine Duplikation des gleichen Gens verursacht eine HMSN 1A (hereditäre motorisch-sensorische Neuropathie Typ 1A).

Bei fehlender kausaler Therapie ist die Vermeidung traumatischer Nervenläsionen von großer Bedeutung. Bei akuter Symptomatik kann TENS (transkutane elektrische Nervenstimulation) angewendet werden.

Summary

Recurrent palsies often lead to extensive diagnostic measures. A 14-year-old boy presented with palsies of the biceps muscle and the extensors of the feet after minor traumas. Family history revealed that the father suffered from intermittent palsies of the legs since childhood. Electroneurography and electromyography (EMG/ENG) showed peripheral neuropathy. By genetic confirmation of a deletion of the gene encoding peripheral myelin protein-22 (PMP22) in the chromosomal region 17p11.2, a clinically suspected HNPP (hereditary neuropathy with liability to pressure palsies) was evident. A duplication of the same gene is responsible for the HMSN 1A (hereditary motor and sensory neuropathy type 1A).

The lack of a causal therapy emphasizes therapeutical strategies towards prevention of even minor pressure traumas. In severe cases TENS (transcutane electric nerve stimulation) might be an alternative.

Schlüsselwörter

Neuropathie - Deletion 17p11.2 - HMSN IA - TENS

Keywords

Neuropathy - deletion 17p11.2 - HMSN IA - TENS

• Literatur

• 1 Barisic N, Skarpa D, Jusic A, Jadro-Santel D. Steroid responsive familial neuropathy with liability to pressure palsies. Neuropediatrics 1990; 21 (04) 191-2.
• 2 Behse F, Buchthal F, Carlsen F, Knappeis GG. Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. Brain 1972; 95: 777-94.
• 3 Chance PF. Overview of hereditary neuropathy with liability to pressure palsies. Ann N Y Acad Sci 1999; 883: 14-21.
• 4 Cruz Martinez A, Arpa J. Carpal tunnel syndrome in childhood: study of 6 cases. Electroencephalogr Clin Neurophysiol 1998; 109 (04) 304-8.
• 5 Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A. et al. Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Neurology 1997; 49 (06) 1635-40.
• 6 Kalfakis N, Pamas M, Karadima G. et al. Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment. Neurology 2000; 59 (09) 1470-1.
• 7 Li J, Krajewski K, Lewis RA, Shy ME. Loss-offunction phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 2004; 29 (02) 205-10.
• 8 Lonnqvist T, Pihko H. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness. Neuromuscul Disord 2003; 13 (10) 827-9.
• 9 Van Meir N, De Smet L. Carpal tunnel syndrome in children. Acta Orthop Belg 2003; 69 (05) 387-95.
• 10 Meretoja P, Silander K, Kalimo H. et al. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord 1997; 7 (08) 529-32.