epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLCepilepsia-169Research ArticleCLINICAL CASESКЛИНИЧЕСКИЕ СЛУЧАИALPERS-HUTTENLOCHER SYNDROMEСИНДРОМ АЛЬПЕРСА-ХУТТЕНЛОХЕРАБатышеваТ. Т.BatyshevaT. T.

Батышева Татьяна Тимофеевна – директор, доктор медицинских наук, профессор, заслуженный врач РФ. Адрес: Мичуринский проспект, д. 74, Москва, 119602

Batysheva Tat’yana Timofeevna – director, Ph.D., Professor, Honored Doctor of the Russian Federation.

Address: Michurinsky Prospect, 74, Moscow, 119602, Russia. 

detb18@mail.ruТрепилецВ. М.TrepiletsV. M.

Трепилец Виктория Михайловна – врач высшей категории.

Адрес: Мичуринский проспект, д. 74, Москва, 119602

Trepilets Viktoriya Mikhailovna – the highest category doctor.

Address: Michurinsky Prospect, 74, Moscow, 119602, Russia. 

trepilets@gmail.comАхадоваЛ. Я.AkhadovaL. Ya.

Ахадова Лейла Ядуллаевна – кандидат медицинских наук, врач невролог, главный специалист.

Адрес: Ми ул. Шарикоподшипниковская, д. 3, Москва, 115088

Akhadova Leila Yadullaevna – MD, neurologist, chief specialist. 

Address: Michurinsky Prospect, 74, Moscow, 119602, Russia. 

detb18@mail.ruГолоснаяГ. С.GolosnayaG. S.

Голосная Галина Станиславовна – ГКБ № 13 филиал № 1, доктор медицинских наук, врач-невролог высшей категории.

Адрес: ул. Шарикоподшипниковская, д. 3, Москва, 115088

Golosnaya Galina Stanislavovna –City Clinical Hospital N 13 branch N 1, MD, neurologist highest category.

Address: Sharikopodshipnikovskaya str.,Moscow, 115088,Russia.

gkb13@zdrav.mos.ruНаучно-практический центр детской психоневрологии, МоскваРоссияScientific and Practical Center of Pediatric psychoneurology, MoscowRussian Federation201511062016714655Copyright © Batysheva T.T., Trepilets V.M., Akhadova L.Y., Golosnaya G.S., 20162016Батышева Т.Т., Трепилец В.М., Ахадова Л.Я., Голосная Г.С.Batysheva T.T., Trepilets V.M., Akhadova L.Y., Golosnaya G.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.epilepsia.su/jour/article/view/169

Alpers-Huttenlocher syndrome is a rare mitochondrial disease connected with mutations in the mitochondrial DNA replicase, polymerase gamma (POLG). The reduction of the activity within mitochondrial enzymes is connected with the reduction of replications level within the mitochondrial DNA. The disease manifests itself once the replications level reaches a critical point. We can also observe the debut variability and disease progression even among patients with identical genotypes and normal children onset up to the moment of clinical presentations debut. Seizures, liver degeneration and progressive development regression are the classical clinical triad of the disease. Seizures are usually resistant to treatment and have a status flow.Liver disfunction is one of the manifestations of the disease inevitable in the terminal stages. The disease in steadily progressive and leads to the patient s death within several years. Valproic acid causes toxic fatal hepatitis developing within several months and leading to the loss of the patent. Timely diagnosis of the disease, prescription of maintenance therapy and elimination of medications containing valproic acid from the seizures therapy can certainly increase patient s lifetime.

 

 

Синдром Альперса-Хуттенлохера – редкое митохондриальное заболевание, связанное с мутациями в митохондриальной ДНК гамма полимеразы (POLG). Снижение активности митохондриальных ферментов связано со снижением уровня репликаций митохондриальной ДНК. Заболевание проявляется, когда уровень репликаций становится критическим. Отмечается вариабельность дебюта и прогрессирования заболевания даже у пациентов с одинаковым генотипом, нормальное развитие ребенка до момента дебюта клинических проявлений. Для данного заболевания характерна триада симптомов: эпилептические приступы, дистрофия печени и регресс развития. Эпилептические приступы обычно резистентны к лечению и часто имеют статусное течение. Дисфункция печени – одно из проявлений заболевания, неизбежное в терминальных стадиях. Заболевание является неуклонно прогрессирующим и приводит к гибели пациента в течение нескольких лет. Вальпроевая кислота вызывает токсический фатальный гепатит, развивающийся в течение нескольких месяцев и приводящий к быстрой гибели пациента. Своевременная диагностика заболевания с назначением поддерживающей терапии и исключение препаратов вальпроевой кислоты из терапии эпилептических приступов могут достоверно увеличить продолжительность жизни больного.

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The authors declare that there are no conflicts of interest present.