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Domniemany zespół Saethre-Chotzena
oraz zespół Crouzona - prezentacja przypadków



1 Katedra i Zakład Ortopedii Szczękowej i Ortodoncji AM we Wrocławiu oraz Katedra i Klinika Stomatologii Zachowawczej i Periodontologii AM w Poznaniu
2 Studia Doktoranckie w Katedrze i Zakładzie Ortopedii Szczękowej i Ortodoncji AM we Wrocławiu

Streszczenie

Zespół Saethre-Chotzena oraz zespół Crouzona są wadami uwarunkowanymi genetycznie charakteryzującymi się przedwczesnym kostnieniem szwów czaszkowych w wieku 1-3 lat. Typowe objawy zespołów są widoczne w obrę¬bie części twarzowej czaszki oraz wewnątrzustnie. Celem pracy był opis zewnątrzustnych i wewnątrzustnych cech genetycznie uwarunkowanego zaburzenia rozwojowego, jakim jest dysostoza czaszkowo-twarzowa, na podstawie przypadków domniemanego zespołu Saethre-Chotzena oraz zespołu Crouzona. W pracy przedstawiono cechy feno-typowe dwóch osób, objętych leczeniem ortodontycznym w Zakładzie Ortopedii Szczękowej i Ortodoncji AM we Wrocławiu. Wczesne rozpoznanie wady, wykonanie odpowiednich zabiegów chirurgicznych (osteotomii, ewakuacji płynu mózgowo-rdzeniowego, korekty całkowitego rozszczepu wargi, wyrostka zębodołowego i podniebienia) poz¬wala ograniczyć nasilenie zniekształceń części twarzowej czaszki, a leczenie ortodontyczne zapewnia pacjentom pra¬widłową wymowę, oddychanie i połykanie (Dent. Med. Probl. 2005, 42, 1, 189-193).


Craniosynostoza (dysostoza czaszkowo-twa¬rzowa, dysostosis craniofacialis hereditaria) to za¬burzenie polegające na przedwczesnym zrośnięciu się szwów czaszki. Istnieją trzy główne czynniki etiologiczne wady: mutacje genów autosomalnych dominujących, które przyczyniają się do zaburzeń mezenchymy, nadczynność tarczycy, powodująca przyspieszone dojrzewanie kości oraz mikrocefa-lia, odpowiadająca za brak rozciągnięcia szwów w czasie wzrostu. Do grupy dysostoz należą m.in. zespół Saethre-Chotzena oraz zespół Crouzona.

Pierwszy z nich został opisany po raz pierwszy przez Seathre'a w 1931 r. oraz przez Chotzena w 1932 r. Wada ta jest spowodowana mutacją w obrębie chromosomu siódmego; dziedziczy się autosomalnie dominująco. W obrębie zespołu Sae¬thre-Chotzena wystepuje wiele wzorców zaburzeń: kraniosynostoza, nisko osadzona przednia granica czoła i owłosionej skóry, asymetria twarzy, opada¬nie powiek, skrzywienie przegrody nosa, brachy-daktylia, częściowy zrost palców (zwłaszcza dru¬giego i trzeciego) oraz wiele nieprawidłowości szkieletowych. Kraniosynostoza jest cechą wystę¬pującą rzadziej niż brachy- trigono- i makrocefalia. W obrębie twarzoczaszki obserwuje się m.in. uwy¬puklenie guzów ciemieniowych oraz czołowych, spłaszczenie potylicy, powiększenie siodła turec¬kiego, zaburzenia kostnienia w obrębie sklepienia czaszki, duże i późno zarastające ciemiączko. Oprócz opadania powiek mogą pojawiać się zmia¬ny oczne w postaci hiperteloryzmu, zeza, zwężenia szpary powiekowej. W obrębie narządu słuchu za¬znaczają się nisko osadzone i zmniejszone małżo¬winy uszne, a także łagodna utrata słuchu typu prze-wodzeniowego i wrodzony zrost przewodu słucho¬wego zewnętrznego. Pacjenci cierpiący na zespół Saethre-Chotzena cechują się spłaszczeniem kąta czołowo-nosowego, hipoplazją szczęki, nadmier¬nym doprzednim wzrostem żuchwy. W obrębie ja¬my ustnej stwierdza się wąskie lub wysoko wyskle-pione podniebienie, wady zgryzu, zęby nadliczbo¬we, hipoplazję szkliwa oraz niekiedy rozszczep podniebienia. Rozwój psychiczny jest najczęściej prawidłowy, niekiedy tylko obserwuje się łagodne lub umiarkowane upośledzenie umysłowe.

Zespół Crouzona został opisany po raz pierw¬szy przez francuskiego neurologa Crouzona w 1912 r. Jest wadą uwarunkowaną genetycznie, dziedziczoną autosomalnie dominująco. Dane źródłowe podają różną częstość występowania -1:25 000 (według Cohena), 1:160 000 (według Lilja) [1, 2]. Wada występuje proporcjonalnie u obu płci i stanowi 4,5% wszystkich dyzostoz [3]. Zespół Crouzona charakteryzuje się przedwczesnym kost¬nieniem szwów czaszkowych (głównie wieńcowe¬go i strzałkowego), rozpoczynającym się przed pierwszym rokiem życia, a kończącym się około trzeciego roku życia. Brak występowania zmian chorobowych na obwodzie ciała, zwłaszcza w obrębie dłoni i stóp, odróżnia ten zespół od ze¬społu Aperta. Istnieje kilka teorii dotyczących etiologii wady. Według Crouzona przedwczesny zrost kostny występuje na skutek zmian zapalnych kości czaszki podczas porodu [2]. Park i Powers natomiast tłumaczą występowanie zespołu uszko¬dzeniem w obrębie mezenchymy szwów czaszko¬wych. Zgodnie z teorią Riepinga, powodem przed¬wczesnego zamknięcia się szwów jest przemie¬szczenie centrów kostnienia w obrębie czaszki

Jako typowe objawy zespołu Crouzona podaje się zniekształcenia czaszki - to jest czaszkę wieżo-watą (oxycephaIia), łódkowatą (scaphocephalia), klinowatą (trigonocephalia), asymetryczną (plagio-cephalia), wysokie czoło z wydatnymi guzami czo¬łowymi, zmniejszony wymiar przednio-tylny cza¬szki i zwiększony jej wymiar poprzeczny. Wytwo¬rzenie garbu kostnego w obrębie ciemiączka duże¬go, połączonego w postaci grzebienia z nasadą no¬sa, nadaje nosowi kształt przypominający zagięty dziób papugi, stąd nazwa ptasi nos (nos Parrota). Często występuje skrzywienie przegrody nosa i za¬burzenia oddychania wskutek niedorozwoju tyl¬nych nozdrzy. Do innych cech charakterystycznych należą: wytrzeszcz gałek ocznych, hiperteloryzm, spłycenie oczodołów, zez rozbieżny, oczopląs. Za¬burzenia rozwojowe twarzowej części czaszki nadają wygląd twarzy żabiej. W wyniku dyspropor¬cji mózgowo-czaszkowej często wzrasta ciśnienie śródczaszkowe, mogące przyczynić się do powsta¬nia tarczy zastoinowej na dnie oka, powodującej za¬nik nerwów wzrokowych i w następstwie zaburze¬nia widzenia oraz ślepotę. Według Kreiberga, w około 55% przypadków omawianego zespołu występują zaburzenia słuchu. Są to najczęściej: nie¬dorozwój zewnętrznego przewodu słuchowego, za¬burzenia rozwoju kosteczek słuchowych i trąbki słuchowej. Nieprawidłowa wentylacja ucha środko¬wego może być przyczyną nawracających stanów zapalnych. W obrębie jamy ustnej zespół Crouzona charakteryzuje się niedorozwojem szczęki, gotyc¬kim podniebieniem oraz różnymi wadami zgryzo-wo-zębowymi (stłoczenia w obrębie zębów szczęki i zębów siecznych żuchwy, aplazja pojedynczych zębów, jednostronny lub obustronny zgryz krzyżo¬wy, zgryz otwarty częściowy przedni, hipodoncja, szparowatość oraz ektopowe wyrzynanie pierw¬szych zębów trzonowych szczęki). Łuki zębowe mają często kształt litery V. Niekiedy występuje rozszczep wargi i podniebienia lub, rzadziej, po-środkowy rozszczep podśluzówkowy. Na zdjęciu rentgenowskim czaszki jest widoczne znaczne po¬głębienie wycisków palczastych pod postacią „pla¬stra miodu", poszerzenie siodła tureckiego oraz hi-poplazja szczęki wraz z jej zatokami. Rozwój umy¬słowy chorych z zespołem Crouzona może być upośledzony. Niekiedy są rozpoznawane objawy neurologiczne w postaci napadów padaczkowych oraz cech wodogłowia [1-6].

Opis przypadków


Przypadek 1
- domniemany
zespół Saethre-Chotzena
Pacjent K. Sz., lat 14, zgłosił się do Zakładu Ortodoncji AM we Wrocławiu w celu leczenia wad zgryzowo-zębowych. Stwierdzono stan po operacji obustronnego rozszczepu wargi, wyrostka zębodołowego i podniebienia. W historii choroby odnoto¬wano, że pierwsza operacja chirurgiczna rozszczepu wargi odbyła się w wieku 3 lat. Po miesiącu wyko¬nano zabieg pogłębienia przedsionka jamy ustnej, pobierając przeszczep z pachwiny. W 4. roku życia przeprowadzono korektę rozszczepu podniebienia, a w 6. ponowną korektę wargi według Randalla. Kompleksową korektę nosa i wargi wykonano w wieku 9 lat. Pacjent wykazywał opóźnienie roz¬woju psychosomatycznego. Na podstawie badania klinicznego stwierdzono zaburzenia rozwojowe od¬powiadające cechom zespołu Saethre-Chotzena. W badaniu zewnątrzustnym potwierdzono brachy-cefalię, spłaszczenie czoła, powiększenie kąta noso-wo-czołowego, asymetrię twarzy, spłaszczenie poty¬licy. W obrębie narządu wzroku stwierdzono hiper-teloryzm, zez rozbieżny, wytrzeszcz gałek ocznych. Zaobserwowano zniekształcenie, spłaszczenie oraz zakrzywienie nosa w prawą stronę, a także uniesie¬nie prawego skrzydła nosa. W okolicy podnosowej były widoczne dwie równoległe blizny pooperacyj¬ne sięgające od czerwieni wargowej do dolnego ograniczenia nozdrzy przednich. uwypuklona i uniesiona warga górna uwydatniała powiększony język o upośledzonej ruchomości. Profil twarzy pa¬cjenta określono jako wypukły (ryc. 1). Badanie we-wnątrzustne ujawniło wady zębowo-zgryzowe, to jest: zwężenie szczęki, odwrotny nagryz poziomy, zaburzenie linii symetrii łuków zębowych, II klasę Angle'a na pierwszych stałych zębach trzonowych strony prawej, a III klasę Angle'a po stronie lewej, mezjorotację przyśrodkowych górnych zębów siecznych, mezjoinklinację pierwszych zębów przedtrzonowych górnych, palatopozycję drugich zębów przedtrzonowych górnych, retruzję zębów siecznych dolnych. Wzdłuż podniebienia przebiega¬ła blizna pooperacyjna (ryc. 2). Ze względu na nie¬prawidłową ruchomość powiększonego języka (skrócenie wędzidła języka) mowę pacjenta określo¬no jako niewyraźną.

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Opisany zespół wad zębowo-zgryzowych był powodem podjęcia leczenia ortodontycznego. W planie leczenia uwzględniono zastosowanie aparatu stałego w łuku górnym i dolnym oraz mon¬taż aparatu grubołukowego. W pierwszym etapie przeprowadzono leczenie aparatem Derischweilera w celu poszerzenia szczęki, a następnie aparatem stałym w obu łukach zębowych. Pacjent kontynuu¬je leczenie ortodontyczne zaplanowane na kilka lat.


Przypadek 2
- zespół Crouzona
Pacjent K. P., lat 9, zgłosił się do Zakładu Orto¬doncji AM we Wrocławiu w grudniu 2002 roku. W historii choroby odnotowano, że matka chłopca chorowała na grypę w 9. miesiącu ciąży, a poród odbył się o czasie siłami natury. W badaniu zewnątrz-ustnym stwierdzono czaszkę o kształcie wieżowa-tym z wydatnymi guzami czołowymi - skutek przedwczesnego zarośnięcia szwów czaszki. Zaob¬serwowano także hiperteloryzm, wytrzeszcz i anty-mongoidalne ustawienie gałek ocznych oraz niskie umiejscowienie małżowin usznych. Profil twarzy został określony jako cofnięty, skośny do przodu, z wygładzoną bruzdą bródkowo-wargową, wydat¬ną wargą dolną i opadającymi kącikami ust. Dolny odcinek twarzy był wydłużony w porównaniu z od¬cinkiem nosowym. Rysy nadawały twarzy wygląd żabi (ryc. 3). Pacjent oddychał przez usta, a trudno¬ści oddechowe były spowodowane przewlekłym stanem zapalnym górnych dróg oddechowych. Stwierdzono mowę wyraźną, z nieznacznym noso-waniem. W badaniu wewnątrzustnym rozpoznano rozszczep podniebienia wtórnego, zwężenie szczę¬ki, przodozgryz rzekomy oraz liczne wady zębowe. U pacjenta występowało uzębienie mieszane (ryc. 4).
W pierwszym etapie leczenia zalecono sanację jamy ustnej z ekstrakcją wszystkich zębów mlecz¬nych z uwagi na rozległość procesu próchnicowe¬go - w przeważającej większości obejmujący ko¬rzenie zębów. Drugi etap leczenia zakładał posze¬rzenie szczęki za pomocą łuku podniebiennego, a następnie w celu uszeregowania zębów oraz do-przedniej rozbudowy łuku górnego zastosowanie maski Delaireva oraz cienkołukowego aparatu sta¬łego w łuku górnym i dolnym. Pacjent obecnie jest w aktywnej fazie leczenia ortodontycznego, prze¬widywany czas leczenia - ponad 3 lata.

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Omówienie


Jak najszybsze rozpoznanie przedwczesnego zrostu szwów czaszki twarzowej jest bardzo istotne ze względu na możliwość zapobiegania powikła¬niom wynikającym ze wzrostu ciśnienia śródcza-szkowego oraz ocznych zmian zanikowych [1]. W przypadku rozwijającego się wodogłowia są wy¬konywane zabiegi neurochirurgiczne polegające na wytworzeniu drogi odpływu płynu mózgowo-rdze-niowego. Korektę nosa Parrota wykonuje się za¬zwyczaj po ukończeniu przez pacjenta 16. roku ży¬cia za pomocą odpowiedniej rynoplastyki. Znie¬kształcenia kości koryguje się stosując zabiegi osteotomii typu le Fort III lub łącznie le Fort I i le Fort III. W razie potrzeby wykorzystuje się przeszczep kości pobierany głównie z żebra, np. w niedorozwoju górnego brzegu oczodołu [5]. W ostatnich latach coraz szersze zastosowanie znaj¬duje technika osteogenezy dystrakcyjnej w celu ko¬rekty hipoplazji środkowej części twarzy. Wykony¬wane są dwa typy osteotomii dystrakcyjnej czakowej twarzy używa się wkrętów mocowanych do kości jarzmowej. W okolicy skroniowej są przy¬twierdzane obustronnie płytki o średnicy 3 cm. Dystrakcja zewnątrzczaszkowa nie jest wygodna dla pacjenta, dlatego też częściej wykonuje się dys-trakcję wewnętrzną, z podziałem na dystrakcję cz꬜ci środkowej twarzy i czaszkową. Urządzenie do dystrakcji wewnętrznej składa się z trzech części wykonanych ze stopu tytanowego - prostokątnej i okrągłej płytki oraz łączącego je pręta. Każdy obrót pręta generuje 0,5 mm dystrakcji. Płytki są przytwierdzone mikrośrubami do kości jarzmowej i skroniowej [7].


Leczenie ortodontyczne pacjentów cierpią¬cych na przedwczesny zrost szwów czaszki rozpo¬czyna się już na wczesnych etapach życia pacjen¬tów. Po wykonaniu niezbędnych etapów chirur¬gicznych służących korekcie rozszczepu jest wprowadzane leczenie ortodontyczne aparatami ruchomymi, a w okresie uzębienia stałego również precyzyjne leczenie różnego rodzaju aparatami stałymi. Terapia ortodontyczna ma najczęściej na celu rozbudowę szczęki oraz poprawę estetyki twarzy i funkcji narządu żucia. jest nieodzownym etapem kompleksowego, wielospecjalistycznego leczenia pacjentów z zespołami Saethre-Chotzena i Crouzona.


Piśmiennictwo
[1] KRZESKA-MALINOWSKA I., SKARŻYŃSKI H., SZWEDOWICZ P.: Niedosłuch w zespole Crouzona. Nowa Pediatria 1999, 11, 1, 5-7.
[2] PERZYNA B., OSTROWSKI J.: Wielkość żuchwy w zespole Crouzona. Czas. Stomat. 1988, 41, 565-573.
[3] COHEN M. M. JR.: Crouzon syndrome, Craniosyntosis. In: Craniosyntosis. Diagnosis, evaluation and management.
Eds.: Cohen M. M. Jr., MacLean R. E., Oxford University Press. 2000, 361-365. [4] DARCZUK D., RADWAŃSKA E., WĘGRZYN M.: Zespół Crouzona. Stomat. Klin. 1993, 14, 93-101. [5] BARTKOWSKI S. B.: Wady rozwojowe twarzy i jamy ustnej, Zespół Crouzona. W: Chirurgia szczękowo-twarzowa.
Bartkowski S. B. Colleguium Medicum UJ, Kraków 1996, 398-399. [6] KOPYŚĆ Z.: Kompendium zespołów i rzadkich chorób dziecięcych. PZWL, Warszawa 1984. [7] AKIZUKI T., OHMORI K.: Craniofacial distraction osteogenesis for correction of midface and cranial hypoplasia. In:
Craniofacial distraction osteogenesis. Eds.: Mikhail L. et al., Mosby, Inc., USA 2001, 561-569.


Adres do korespondencji:
Teresa Matthews-Brzozowska
Katedra i Zakład Ortopedii Szczękowej i Ortodoncji AM ul. Krakowska 26 50-425 Wrocław tel.: +48 71 784 02 99
Praca wpłynęła do Redakcji: 28.07.2004 r.
Po recenzji: 3.09.2004 r.
zaakceptowano do druku: 3.11.2004 r.
Received: 28.07.2004 Revised: 3.09.2004 Accepted: 3.11.2004



 

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