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Časopis Neurology – Článok Hereditary neuropathy with liability to pressure palsies – case report

Neurology

Reviewed, postgraduate scietific medical journal.
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
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Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné
Téma:  Case Studies

Hereditary neuropathy with liability to pressure palsies – case report

Gabriel Hajaš1, Branislav Veselý1, Miroslav Brozman1, Peter Reško2, Helena Poláková3, Ľudevít Kádaši3

Hereditary neuropathy with liability to pressure palsies (HNPP), the mildest form of CMT disease, is manifested by episodic, recurrent peripheral nerve palsy, which is often preceded by history of minor trauma at vulnerable sites. In the first report we describe a case of man with history of several injuries. The patient was initially presented to the Clinic of Neurology for upper limb weakness and atrophy of interosseal muscles. Clinical and EMG findings indicated for bilateral lesion of ulnar nerves with partial conduction block in the elbow region. The condition was considered as the bilateral ulnar nerv entrapment at the elbow. Neurosurgery of ulnar nerve didn´t provide excepted benefit. Due to a development of weakness and atrophy of the legs, we consecutive supposed hereditary neuropathy. DNA analysis confirmed deletion in 17p11.2 region, that contains the gene for peripheral myelin protein 22 (PMP 22). HNPP was thus established. In the second case we describe the daughter of the above named patient, who presented with a bilateral carpal tunnel syndrome. Given the clinical and EMG findings we assumed HNPP, the result of the DNA analysis still is not available. We can avoid unnecessary surgery at the entrapment regions by the early and correct diagnosis of HNPP. The patients can thus be informed about their diagnosis, prognosis ant type of inheritance.

Hereditary neuropathy with liability to pressure palsies (HNPP), molecular genetics, electromyography, diagnostics
Neurológia 2011; 6 (3): 117-122

Ročník 2011  Témy časopisu Neurology 3 / 2011

Overview works

Martin Kuliha1, Martin Roubec1, David Školoudík1,2

Original Works

Peter Špalek

Case Studies

Gabriel Hajaš1, Branislav Veselý1, Miroslav Brozman1, Peter Reško2, Helena Poláková3, Ľudevít Kádaši3
Monika Turčanová Koprušáková, Jozef Michalik, Štefan Sivák, Vladimír Nosáľ, Egon Kurča
Ľubica Beńová, Georgi Krastev

Katarína Kračunová1, Dana Marčišinová2, Miroslav Helbich3, František Cibulčík1, Ján Benetin1
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CHAIRMAN OF THE EDITORIAL BOARD
doc. MUDr. Miroslav Brozman, CSc.

MEMBERS OF THE EDITORIAL BOARD
MUDr. František Cibulčík, CSc.
doc. MUDr. Eleonóra Klímová, CSc.
doc. MUDr. Pavol Kučera, PhD.
MUDr. Marian Kuchar, PhD.
doc. MUDr. Robert Mikulík,Ph.D., FESO
MUDr. Vladimír Nosáľ, PhD.
MUDr. Ľubica Procházková, CSc.
prof. MUDr. Bruno Rudinský, CSc.
doc. MUDr. Daniel Šaňák, Ph.D.
doc. MUDr. David Školoudík, Ph.D., FESO
prof. MUDr. Karel Šonka, DrSc.
doc. MUDr. Peter Špalek, PhD.
Dr. Milan R. Voško, PhD.

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Period 3x per year
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The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné