Лежена синдром (J. J. L.М. Lejeune, франц. педиатр
и генетик, родился в 1926 г.; синоним синдром кошачьего крика) —
врожденный комплекс пороков развития, обусловленный нарушением структуры одной
из хромосом группы В. Описан в 1963 г. Леженом
с соавторами.
Частота синдрома среди новорожденных около 1: 3000, мальчики и девочки
поражаются одинаково часто. Зависимость частоты рождения детей с Л.с. от
возраста родителей не установлена. Синдром обусловлен изменениями короткого
плеча хромосомы 5-й пары (рис. 1), возникающими чаще
вследствие потери участка хромосомы, реже — структурной перестройки
хромосомы или перемещения сегмента хромосомы внутри хромосомного набора.
Описаны и другие варианты сбалансированных транслокаций в клетках родителей,
приводившие к рождению детей с синдромом Лежена.
Некоторая вариабельность клинических проявлений синдрома, по-видимому, зависит
от размеров недостающего участка хромосомы.
Дети с Л.с. обычно рождаются с низкой массой тела (до 2500 г) даже при доношенной беременности. Наиболее
постоянным признаком является специфический плач, напоминающий кошачье
мяуканье. Этот симптом обусловлен особенностью строения гортани, определяемым
при ларингоскопии — маленьким вялым надгортанником, который может
опускаться над голосовой щелью. Голосовые складки не изменены.
Рентгенологически отмечается уменьшение воздушного пространства над голосовыми
складками.
В раннем детском возрасте характерны лунообразное лицо, косой разрез
глаз с опущенными наружными углами, эпикантус (складка у внутреннего угла
глаза), гипертелоризм (широко расставленные глаза), несколько уплощенный нос,
низко расположенные ушные раковины (рис. 2), впереди которых часто
имеются небольшие (размером 1—3 мм)
круглые фиброзные узелки. Мозговой череп относительно малых размеров
(микроцефалия), долихоцефальной формы (значительное преобладание продольных
размеров над поперечными) или с выступающими лобными буграми. Отмечается
маленькая нижняя челюсть и короткая шея с избыточной кожей, формирующей
крыловидные складки. В некоторых случаях отмечается расщепление верхней губы
или неба либо высокое готическое небо и расщепление язычка. Возможны преходящее
или постоянное косоглазие,
астигматизм (см. Рефракция глаза).
В ряде случаев выявляют изменения
глазного дна, в частности очаги депигментации сетчатки, а также атрофию
зрительного нерва. Из аномалий развития внутренних органов наиболее часты
пороки развития сердца и сосудов, почек. У мальчиков часто бывает гипоспадия. Может быть
четырехпалость или короткая, треугольной формы средняя фаланга V пальца. Общая
мышечная гипотония, характерная для новорожденных с Л.с., обычно сохраняется в
течение 1 года и дольше. У всех детей с Л.с. наблюдается умственная
отсталость, большинство отстают в физическом развитии. Биохимические нарушения
при Л.с. неспецифичны: длительное сохранение фетального гемоглобина, некоторое
снижение содержания альбумина в сыворотке крови, умеренная аминоацидемия и
аминоацидурия.
Частота и выраженность отдельных признаков Л.с. имеют возрастную
зависимость. Такие признаки, как плач, напоминающий кошачье мяуканье, мышечная
гипотония, лунообразное лицо в большинстве случаев с возрастом полностью
исчезают, а микроцефалия, косой разрез глаз становятся более выраженными;
прогрессирует отставание в психомоторном развитии. Может быть стридор; больные подвержены заболеваниям
верхних дыхательных путей.
Синдром дифференцируют с другими врожденными пороками развития
хромосомной и нехромосомной этиологии. Диагноз подтверждается кариологическим
исследованием с применением одного из методов идентификации хромосом.
Средняя продолжительность жизни больных снижена. Они погибают вследствие
сердечной недостаточности или почечной недостаточности, от
интеркуррентных инфекционных болезней.
Профилактика заключается в своевременном проведении медико-генетического консультирования в семьях, где имелись
больные с синдромом Лежена и основывается на
определении кариотипа родителей, у которых был больной ребенок. Наличие
изменений короткого плеча 5-й пары хромосом является абсолютным показанием для
антенатального определения кариотипа плода при последующих беременностях путем
амниоцентеза и исследования амниотических клеток. Сбалансированная транслокация
у одного из родителей требует также исследования кариотипа у его кровных
родственников с целью выявления лиц, имеющих транслокацию.
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