Neurol. pro Praxi, 2003; 6: 319-323

Integrita centrálneho a periférneho nervového systému pri juvenilnej hyalínovej fibromatóze

MUDr. Dušan Trstenský1, doc. MUDr. Egon Kurča Ph.D1, MUDr. Jozef Michalik1, MUDr. Milan R. Voško PhD1, MUDr. Ema Kantorová1, doc. MUDr. Adamicová Katarína PhD2, doc. MUDr. Fetisovová Želmíra PhD3
1 Neurologická klinika JLF UK a MFN, Martin
2 Ústav patologickej anatómie JLF UK a MFN, Martin
3 Dermatovenerologická klinika JLF UK a MFN, Martin

Published: December 31, 2003  Show citation

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Trstenský D, Kurča E, Michalik J, Voško MR, Kantorová E, Katarína A, Želmíra F. Integrita centrálneho a periférneho nervového systému pri juvenilnej hyalínovej fibromatóze. Neurol. praxi. 2003;4(6):319-323.

Úvod: Juvenilná hyalínová fibromatóza (JHF) je zriedkavé autozómovo recesívne dedičné ochorenie charakterizované prítomnosťou mnohopočetných subkutánnych nodulárnych tumorov, gingiválnou hypertrofiou, flekčnými kontraktúrami končatín a osteolytickými léziami kostí. V niektorých prípadoch je ako príznak JHF taktiež uvedená mentálna retardácia. Vo svete bolo doteraz opísaných približne 70 prípadov ochorenia. Práca, v ktorej by sa autori podrobne zaoberali možným poškodením nervového systému pri JHF, nebola v dostupnej literatúre uverejnená.

Metodika a výsledky: 38-ročný pacient s JHF (diagnóza stanovená na základe klinického nálezu a typického histopatologického obrazu tkaniva excidovaného z tumorov) absolvoval klinické neurologické vyšetrenie, psychologické vyšetrenie, vybrané zobrazovacie vyšetrenia nervového systému (CT a MR mozgu) a vybrané funkčné vyšetrenia nervového systému (99Tc HMPAO SPECT, EEG, VEP, BAEP, SEP nervus ulnaris, EMG, urodynamické vyšetrenie). Všetky vykonané vyšetrenia nepotvrdili presvedčivé poškodenie centrálneho a periférneho nervového systému podmienené JHF.

Záver: Zníženie intelektových schopností pacienta pripisujeme dlhotrvajúcemu deficitu primeraných podnetov z vonkajšieho prostredia (sociálna izolácia, deprivácia vzdelania). Kontraktúry a hypotrofie svalov sú dôsledkom primárneho poškodenia väzivových a kostných štruktúr. Pripúšťame iba ľahké iritačné poškodenie vybraných nervov na základe tlakového mechanizmu v určitých polohách pri uvedených muskuloskeletálnych deformitách.

Kľúčové slová

juvenilná hyalínová fibromatóza, hereditárne ochorenia spojivového tkaniva, nervový systém.

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