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Start arrow Autosomalne recesywne arrow Niskorosłość MULIBREY

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Niskorosłość MULIBREY - nazwa zespołu pochodzi od nazw zajętych w tej chorobie narządów: mięśni (MUscle), wątroby (LIver), mózgu (BRain) i oczu (EYes).

Inne nazwy:

MUL
zespół Perheentupy
niskorosłość mięśniowo-wątrobowo-mózgowo-oczna (ang. muscle-liver-brain-eye nanism)

Niskorosłość MULIBREY to bardzo rzadka choroba genetyczna dziedziczona w sposób autosomalny recesywny, opisana po raz pierwszy w Finlandii, w 1973 roku przez J. Perheentupa i jego współpracowników. Wywoływana jest przez mutacje w locus 17q22–q23 w genie TRIM37, kodującym białko peroksysomów. Ogółem na świecie udokumentowano 110 takich przypadków, z czego 85 z nich stanowili Finowie. Rodzice wielu chorych na zespół MULIBREY było ze sobą spokrewnionych, a choroba objawia się różnie, nawet w przypadku rodzeństwa.

Objawy i przebieg

Problemy z karmieniem oraz infekcje dróg oddechowych to najczęstsze problemy we wczesnym dzieciństwie.

Na fenotyp zespołu składają się następujące wady wrodzone i cechy dysmorficzne:
• zaburzenia wzrostu o pochodzeniu prenatalnym, wrodzona niskorosłość
• czaszka z wodogłowiem
• hipotonia
• naevi flammei (znamiona naczyniowe, wytworzone z tkanki naczyniotwórczej, gęstej sieci naczyń krwionośnych, tzw. czerwone ogniste plamy, występujące najczęściej w okolicach szyi i twarzy) (65%)
• niezwykły, wysoki ton głosu (96%)
• normalna inteligencja
• twarz: łódkogłowie, trójkątny kształt twarzy, wysokie i szerokie czoło, wysokie podniebienie, mała broda i niska nasada nosa (90%)
• oczy: szeroko osadzone, żółtawe plamki w zewnętrznej połowie obwodu siatkówki, tęczówki o zanikającym barwniku, hipoplazja naczyniówki, zez, astygmatyzm
• hepatomegalia (powiększenie wątroby) (45%)
• sercowo-naczyniowe:
o zaciskające zapalenie osierdzia (u większości przypadków)
o przerost mięśnia sercowego i jego zwłóknienie
o niewydolność serca u przynajmniej 50% pacjentów
• dysplazja włóknista kości długich (25%)
• hipoplazja języka (80%)
• nisko osadzone i zrotowane ku tyłowi małżowiny uszne (54%)
• stłoczenie zębów (50%)
• wysoka linia włosów (45%)
• szerokie szwy czaszkowe i ciemiączka w okresie niemowlęcym (37%)
• nieprawidłowo szeroki szew czołowy (31%)
• rozszczep podniebienia (2%)
• cienkie kończyny (99%)
• wydatna lordoza lędźwiowa (96%)
• ogólna delikatność budowy (95%)
• wąskie ramiona (94%)
• mała, dzwonowata klatka piersiowa (94%)
• beczkowaty tułów (92%)
• słabo wykształcone pośladki (52%)
• stosunkowo krótsze proksymalne odcinki kończyn (90%)
• stosunkowo duża głowa względem wzrostu (81%)
• duże dłonie i stopy względem wzrostu (67%)
• asymetria kośćca (15%).

Objawy radiologiczne

pogrubienie kości skroniowej i czołowej (90%)
płytkie J-kształtne siodło tureckie (89%)
zrotowane bocznie oczodoły (80%)
mała, hipoplastyczna twarzoczaszka (71%)
hiperteloryzm oczny (64%)
poszerzenie światła komór mózgowia i zbiorników płynu mózgowo-rdzeniowego (43%)

 

 

Ochrona Prawna

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