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"code": "Q02",
"name": "Микроцефалия",
"icd_name": "Микроцефалия",
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"lead": "Нарушение здоровья, относящееся к группе врожденные аномалии [пороки развития] нервной системы",
"description": "Микроцефалия – недоразвитие черепа и головного мозга, сопровождающее умственной отсталостью и неврологическими отклонениями. \r\n ",
"etiology": "<p>Первичной считается микроцефалия, развитие которой произошло в результате наследования ребенком дефектных генов от одного или обоих родителей. К хромосомным заболеваниям относятся: </p>\r\n<ul>\r\n<li>Синдром Дауна; </li>\r\n<li>Синдром Эдвардса; </li>\r\n<li>Синдром Патау; </li>\r\n<li>Синдром кошачьего крика и т.д. </li>\r\n</ul>\r\n<p>Вторичная микроцефалия развивается в результате воздействия неблагоприятных факторов в период эмбрионального развития плода, когда происходит закладка и формирование структур головного мозга. Генетический аппарат родителей при этом не нарушен. </p>\r\n<p>Вторичная микроцефалия может быть обусловлена: </p>\r\n<ul>\r\n<li>Вирусными заболеваниями (краснухой, цитомегалией, корью); </li>\r\n<li>Токсоплазмозом; </li>\r\n<li>Злоупотреблением алкоголем; </li>\r\n<li>Злоупотреблением наркотиками; </li>\r\n<li>Приемом некоторых медикаментов; </li>\r\n<li>Голоданием; </li>\r\n<li>Внутриутробной гипоксией плода; </li>\r\n<li>Механическими травмами. </li>\r\n</ul>",
"pathogenesis": "<p>При первичной микроцефалии возникает остановка роста мозга (и вслед за ним черепа) без указаний на дегенеративный процесс или повреждение. Истинная микроцефалия всегда имеет наследственный характер. Она возникает в результате раннего поражения зародышевых клеток и обусловленного этим искаженного развития мозга. При этом отсутствуют признаки перенесенных мозговых заболеваний. </p>\r\n<p>Вторичная (ложная, или церебропатическая) микроцефалия возникает в результате рано перенесенного мозгового заболевания. Чаще оно носит воспалительный или травматический характер. </p>",
"diagnostics": "<p>Диагностика микроцефалии включает: </p>\r\n<p>Жалобы и анамнез: уменьшение размеров головы, задержка в психоречевом развитии, снижение мышления, памяти, внимания, расторможенность, неусидчивость. Перинатальный анамнез отягощен, в анамнезе возможны перенесенные нейроинфекции. Окружность черепа не увеличивается или увеличивается незначительно. <br /> Физикальное обследование: маленькая окружность головы, лоб скошен, затылок уплощен, отмечается выраженная диспропорция между лицевым и мозговым черепом, большие выступающие уши. У 95% больных отмечается неврологическая симптоматика: нарушение мышечного тонуса, спастические парезы, судороги, умственная отсталость, расстройство координации движений, косоглазие. <br /> Инструментальные исследования: на ЭЭГ задержка формирования возрастной корковой ритмики, диффузные изменения электрогенеза головного мозга. </p>",
"treatment": "<p>Современное лечение микроцефалии заключается в основном в симптоматической поддержке больного при помощи медикаментозных препаратов, а также в комплексных реабилитационных мероприятиях, направленных на максимальную адаптацию и социализацию ребенка. В качестве лекарственной терапии для лечения микроцефалии применяются препараты, улучшающие обменные процессы в мозговой ткани, витаминные комплексы и т. д. По показаниям - противосудорожные и седативные препараты. В рамках реабилитационных мероприятий детям с микроцефалией необходимы занятия лечебной физкультурой, массаж, трудотерапия.</p>",
"prevention": "<p>Профилактика микроцефалии у детей предусматривает тщательное планирование беременности, обследование на инфекции (TORCH-комплекс, ПЦР), антенатальную охрану плода. Раннее внутриутробное выявление микроцефалии является основанием для решения вопроса об искусственном прерывании беременности. Медико-генетическое консультирование семей, имеющих детей с микроцефалией, необходимо для оценки потенциального риска при последующих беременностях.</p>",
"clinical_picture": "<p>Объем черепа у ребенка с микроцефалией уменьшен уже при рождении, в дальнейшем его развитие заметно отстает от возрастной нормы. Отмечается преобладание лицевого черепа над мозговым. Типичный внешний вид больного с микроцефалией характеризуется узким и скошенным лбом, выступающими надбровными дугами, большими ушами. Большой родничок и черепные швы закрываются уже в первые месяцы жизни. В дальнейшем больные с микроцефалией обычно отстают в массе и росте (вплоть до карликовости), имеют диспропорциональное телосложение, узкое высокое (готическое) небо, большие редкие зубы. </p>\r\n<p>Неврологические нарушения при микроцефалии могут включать мышечную дистонию, спастические парезы, атаксию, судороги, косоглазие. Часто дети с микроцефалией могут страдать эпилепсией и детским церебральным параличом. Дети с микроцефалией поздно начинают держать головку, сидеть, ползать, ходить. Отмечается грубая задержка речевого развития, нечеткость артикуляции, резкая ограниченность словарного запаса, нарушение понимания обращенной речи. </p>\r\n<p>Степень интеллектуальных нарушений у ребенка с микроцефалией может варьировать от дебильности до идиотии. При нерезко выраженной умственной отсталости больные с микроцефалией могут быть обучаемы, способны к самообслуживанию и выполнению несложных поручений. Однако в большинстве случаев дети с микроцефалией требуют ухода, контроля и надзора со стороны взрослых. </p>\r\n<p>По особенностям темперамента дети с микроцефалией могут быть отнесены к торпидной или эретической группе. В первом случае детям свойственна малоподвижность, вялость, безучастность к окружающему, пассивно-подражательная деятельность; во втором случае – гиперактивность, суетливость, подвижность, неустойчивое внимание. Эмоциональная сфера у больных с микроцефалией остается относительно сохранной: дети приветливы, добродушны; реже - эмоционально неустойчивы и склонны к аффективным вспышкам. </p>",
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"lead": "По венам осуществляется вывод с кровью отработанных веществ (шлаков). Благодаря этим сосудам, поддерживается необходимое черепно-мозговое давление путем сброса ликвора в мозговые венозные синусы.",
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"code": "Q03",
"name": "Врожденная гидроцефалия",
"icd_name": "Врожденная гидроцефалия",
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"slug": "q03_vrozhdennaya_gidrocefaliya",
"lead": "Нарушение здоровья, относящееся к группе врожденные аномалии [пороки развития] нервной системы",
"description": " \r\nВрожденная гидроцефалия – это патологическое состояние, которое сопровождается накоплением спинномозговой жидкости в желудочках мозга из-за ее избыточной продукции, нарушения всасывания или препятствие на пути оттока. ",
"etiology": "<p>К причинам врожденной гидроцефалии относятся пороки развития ликворной системы : </p>\r\n<ul>\r\n<li>атрезия отверстий, соединяющих желудочки мозга (Мажанди и Люшка); </li>\r\n<li>дефекты в строении подпаутинного пространства; </li>\r\n<li>сужение (стеноз) сильвиевого водопровода; </li>\r\n<li>краниовертебральные аномалии (аномалии границы между основанием черепа и верхнешейным отделом позвоночника) - аномалия Киари, врожденная базилярная импрессия. </li>\r\n</ul>\r\n<p>Причинами врожденной гидроцефалии могут также быть внутриутробные инфекции (токсоплазмоз, врожденный сифилис, цитомегалия, краснуха), родовая травма. </p>",
"pathogenesis": "<p>Традиционно модель гидроцефалии трактуется как дисбаланс между продуцированием и абсорбцией черепно-мозговой жидкости. Современные исследования показывают, что основная роль определяется абсорбцией капиллярами мозга. Гемодинамический патогенез гидроцефалии (первичная и вторичная) определяется нарушением венозного оттока (обструктивная гидроцефалия) и уменьшением артериальной пульсации (сообщающаяся гидроцефалия).</p>",
"diagnostics": "<p>Гидроцефалия может быть выявлена у плода в перриод внутриутробного развития при проведении скрининга беременной женщины. УЗИ плода позволяет обнаружить гидроцефалию у ребенка на 16–20 неделе беременности. После рождения у некоторых детей гидроцефалия выявляется сразу в родильном доме специалистом-неонатологом. </p>\r\n<p>Трансиллюминация (диафаноскопия) черепа позволяет выявить наружную гидроцефалию у детей, исключить гидроанэнцефалию и субдуральную гигрому. Суть его в просвечивании головы пучком света от лампы в затемнённом помещении. В их лучах при гидроцефалии начинает светиться вся голова. </p>\r\n<p>Рентгенография черепа – выявляют истончение костной ткани, расхождение швов черепа, на внутренней поверхности черепной коробки присутствует характерный симптом “пальцевидных вдавлений”. </p>\r\n<p>Магнитно-резонансная и компьютерная томография позволяют с большой точностью визуализировать патологические изменения внутри черепа, выявить место, которое препятствует оттоку ликвора. </p>\r\n<p>Ультрасонография – ультразвуковое исследование головного мозга через открытый большой родничок. Позволяет определить степень повышения внутричерепного давления. </p>\r\n<p>Офтальмоскопия – осмотр глазного дна. Выявляют застойные диски зрительных нервов, как следствие повышенного внутричерепного давления. </p>\r\n<p>Для оценки давления цереброспинальной жидкости, исследования ее состава и проведения ликвородинамических проб прибегают к вентрикулярной и люмбальной пункциям. </p>",
"treatment": "<p>Основными принципами лечения гидроцефалии у детей является снижение продукции спиномозговой жидкости и нормализация ее циркуляции по ликвороносным путям, в т. ч. с помощью создания обходных анастомозов. </p>\r\n<p>С целью снижения продукции ликвора и внутричерепного давления проводится дегидратационная терапия диуретиками, ингибиторами карбоангидразы, салуретиками. При прогрессирующем нарастании гидроцефалии у детей в течение 2—3-х месяцев ставится вопрос о хирургическом вмешательстве. </p>\r\n<p>Оптимальный способ оперативного вмешательства определяется этиологией, формой, стадией гидроцефалии у детей. В настоящее время все виды операций при гидроцефалии у детей могут быть поделены на 5 групп: </p>\r\n<ul>\r\n<li>паллиативные вмешательства, позволяющие временно снизить внутричерепное давление и устранить краниоцеребральную диспропорцию (люмбальные и вентрикулярные пункции, наружное вентрикулярное дренирование) </li>\r\n<li>операции, направленные на подавление ликворопродукции (клипирование, коагуляция сосудистого сплетения) </li>\r\n<li>операции, направленные на восстановление естественных путей циркуляции ликвора или создание новых путей ликворооттока (удаление опухолей, внутричерепных гематом , вентрикулостомия) </li>\r\n<li>операции, активизирующие ликворосорбцию (рассечение арахноидальных спаек и др.) </li>\r\n<li>шунтирующие операции, предусматривающие отведение ликвора в другие системы организма (вентрикулоперитонеальное шунтирование, люмбоперитонеальное шунтирование, вентрикулоатриарное шунтирование, вентрикулоцистерностомия, кистовентрикулоперитонеостомия, субдуроперитонеостомия). При невозможности выполнения стандартных шунтриующих операций проводятся атипичные шунтирующие вмешательства - вентрикулоплевральное, вентрикулоуретральное вентрикулобиллиарное шунтирование. Ликворошунтирующие операции при гидроцефалии у детей сопряжены с риском нарушения функционирования дренажных систем, гипердренированием или осложнениями воспалительного характера. </li>\r\n</ul>",
"prevention": "<p>Чтобы предупредить развитие врожденной гидроцефалии необходимо: </p>\r\n<ul>\r\n<li>Защищаться от инфекционных заболеваний во время беременности </li>\r\n<li>Не принимать никаких медикаментов во время беременности, кроме тех, которые прописал врач </li>\r\n<li>Профилактическое плановое УЗИ-обследование беременных женщин и нейроультрасонография у младенцев. </li>\r\n</ul>",
"clinical_picture": "<p>У детей из-за большой податливости костей черепа не наблюдается повышения внутричерепного давления, гидроцефалия у них сопровождается увеличением размеров черепа. У новорожденных и детей раннего возраста гидроцефалия характеризуется слишком большим размером головы, выбуханием вен скальпа, напряжением и отсутствием пульсации большого родничка, отеком дисков зрительных нервов. Часто отмечается симптом «заходящего солнца» - ограничение движений глазных яблок кверху. Может наблюдаться расхождение швов черепа. Постукивание по черепу сопровождается характерным звуком (симптом «треснутого горшка»). У детей первого года жизни гидроцефалия приводит к отставанию в физическом и умственном развитии. Они позже начинают держать голову, переворачиваться, сидеть и ходить. </p>\r\n<p>Дети, у которых имеется выраженная гидроцефалия, отличаются шарообразной формой головы, ее слишком большим размером, глубоко посаженными глазами, оттопыренными ушами, истончением кожи головы. Может отмечаться снижение зрения, повышение мышечного тонуса в нижних конечностях, нарушения со стороны черепных нервов. Дети, страдающие гидроцефалией, малоподвижны, не могут следить глазами за родителями. Они раздражены, часто плачут, постоянно сонливы, плохо едят. Их часто тошнит. </p>",
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