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维生素补充剂在罕见癫痫诊断后保持儿童无癫痫发作的九年

Violet Raney has been footloose and seizure-free since Gretchen Von Allmen, MD, diagnosed her with pyridoxine-dependent epilepsy and prescribed her vitamin B6 supplements nine years ago. (Photo courtesy of Charla Buras)
Violet Raney has been footloose and seizure-free since Gretchen Von Allmen, MD, diagnosed her with pyridoxine-dependent epilepsy and prescribed her vitamin B6 supplements nine years ago. (Photo courtesy of Charla Buras)
紫罗兰·兰尼(Violet Raney)在仅11个月大时就开始经历大麦芽狂潮,并在15个月大时与冯·奥尔曼(Von Allmen)博士见面之前,就看到了多个专家。(照片由Charla Buras提供)
紫罗兰·兰尼(Violet Raney)在仅11个月大时就开始经历大麦芽狂潮,并在15个月大时与冯·奥尔曼(Von Allmen)博士见面之前,就看到了多个专家。(照片由Charla Buras提供)
Gretchen Von Allmen, MD, professor and director of the Division of Child and Adolescent Neurology with McGovern Medical School at UTHealth Houston.
Gretchen Von Allmen, MD, professor and director of the Division of Child and Adolescent Neurology with McGovern Medical School at UTHealth Houston.

When she first noticed tremors in her newborn daughter Violet’s limbs, doctors told Buras not to sweat it, that Violet would be okay. But then, when Violet was 11 months old, the infant went into a tonic-clonic seizure – also known as a grand mal seizure – in which she lost consciousness and exhibited violent muscle contractions.

尽管害怕Buras集,它没有the same effect on the emergency room doctor, who sent mother and daughter home shortly after their visit. Twenty-four hours later, another tonic-clonic seizure took hold of Violet, who was prescribed her first anti-seizure medication. However, the seizures didn’t stop.

“有很多911次电话,救护车旅行和急诊室访问,每次,他们都会将她服用第二,第三和第四次药物。进行了许多侵入性测试,从未发现任何东西。” Buras说。“这是我们生活中的可怕时刻。”

紫罗兰被诊断出患有特发性顽固性癫痫,这意味着她的病情无法用药物控制。那时,紫罗兰正在服用六种不同的药物,并且在五分钟内仍有多次癫痫发作。

似乎所有的希望都丢失了,直到一天晚上,Buras的母亲Loretta Bonds正在观看当地新闻,并看到了儿科神经科医生Gretchen Von Allmen, MD,讨论她如何帮助拯救一个也有可怕癫痫发作的小男孩。邦德斯立即拨打了Buras,并敦促她安排与休斯顿大学德克萨斯大学健康科学中心McGovern医学院的儿童和青少年神经病学教授兼教授和青少年神经病学系主任的任命(休斯顿乌西卫生)。

Buras第二天在休斯敦Uthealth Huston的McGovern医学院的临床实践UT医师办公室致电von Allmen办公室。她预订了几个月的预约,但认为紫罗兰无力等待这么长时间,每天打电话给医生办公室,检查是否有任何取消。当出人意料的开口时,她立即抓住了它,并将紫罗兰带到了任命。

“我第一次遇到冯·阿尔门博士时,我不是在寻找治愈方法;我充其量是在寻找一种可以减少紫罗兰癫痫发作的药物,以便她的生活质量更好。” Buras说。“但是在第一次访问时,冯·奥尔曼博士给了我她的手机号码,并告诉我,‘我们要弄清楚紫罗兰有什么问题。’”

几天后,紫罗兰再次癫痫发作,冯·阿尔门立即将她送往儿童纪念馆赫尔曼医院的癫痫监测室(EMU)。在紫罗兰(Violet)为期一天的逗留期间,冯·阿尔曼(Von Allmen)对她进行了脊柱水龙头,尽管Buras最初对侵入性手术感到犹豫,尤其是考虑到它过去没有为她的女儿工作。但是,冯·奥尔曼(Von Allmen)能够平息她的恐惧。

“因为我知道频繁不受控制的癫痫发作的所有后果,所以这种风险比脊柱水龙头的风险差得多,这并不比抽血更危险。”与麦戈文医学院的计划。“所有父母都想帮助他们的孩子。这些测试应以使他们了解真正风险的方式以及测试本身重要的原因,并且您,医生,也想帮助他们的孩子。”

脊柱水龙头后,冯·奥尔曼(Von Allmen)将紫罗兰(Violet)送回家。

Within a week, Buras’ phone rang. It was someone from Von Allmen’s office, saying they figured out what was wrong with Violet: She had pyridoxine-dependent epilepsy (PDE), a rare form of epilepsy that causes stubborn, difficult-to-control seizures in newborns, infants, and occasionally older children. Only 200 patients have been reported in the medical literature thus far.

值得注意的是,PDE患者经历的顽固性癫痫发作不受抗惊厥药的控制。但是,它们确实对大量的吡啶醇每日补充剂有反应,也称为维生素B6。这是因为患有PDE的人比原本正常的个体需要更多的维生素。

To address this issue, Von Allmen instructed Buras to buy over-the-counter vitamin B6 from a nearby store. Buras then crushed up the vitamin and mixed it in Violet’s baby formula. Since that day nine years ago, Violet has been seizure-free.

冯·奥尔曼(Von Allmen)说,紫罗兰(Violet)的案例说明了检查所有可能可治疗的癫痫病因(包括更晦涩的病)的重要性,当患者对通常可用于癫痫发作的药物没有反应时。

冯·奥尔曼(Von Allmen)说:“这可能会使生与死之间的区别,但是如果您不寻找它,您将不知道。“您可以给孩子有正常生活和潜在正常脑发育的机会。紫罗兰是一个完美的例子。”

现在,紫罗兰每天两次服用维生素B6,并过着“健康,正常,美丽的生活”,尽管她的母亲仍然拜访冯·奥尔曼(Von Allmen)进行年度检查。这个月满10岁的蓝眼睛的金发女郎喜欢画画,骑自行车,去海滩,并与朋友交往。

“I know that without Dr. Von Allmen, my child would not be alive,” Buras said. “It’s hard to imagine that someone you don’t even know could change your life so drastically, but she definitely changed my life and Violet’s life. As a mother, it’s hard to express what that means to my daughter and me. I want her to follow Violet until she’s old.”

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