Frequent recurrence of pancreatitis in a patient with Leigh syndrome.
Frequent recurrence of pancreatitis in a patient with Leigh syndrome.
复制标题
Leigh 综合征患者胰腺炎频繁复发。
DOI：
10.1111/ped.15021
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Iijima K.
中科院分区：
文献类型：
--
作者：
Nakashima K;Bo R;Awano H;Nishiyama M;Iijima K.
Leigh综合征(LS)是一种严重的进行性神经退行性疾病，由于线粒体功能障碍，基底节和脑干出现对称性坏死性病变。LS具有高度可变的临床特征，包括神经系统症状、心力衰竭、肝功能衰竭、肌肉症状和消化器官症状(1)。虽然有一些线粒体疾病患者并发急性胰腺炎的报道(2)，但有关LS患者的报道很少。此外，由于LS患者精神运动发育迟缓的比率很高，患者通常不会抱怨有胰腺炎症状，如腹痛(3)。在此，我们报告一位LS复发性胰腺炎患者，着重介绍她入院时的临床特征。此病例报告得到患者父母的知情同意，患者出生时体重3096克，父母无血缘关系。在婴儿期，她表现出癫痫发作，并根据升高的乳酸水平、脑磁共振成像结果和基因分析(同质性m.8993T和GT；G变异)被诊断为LS。确诊后开始使用抗癫痫药物，包括苯巴比妥、唑尼沙胺和氯巴坦，以及线粒体鸡尾酒，包括硫胺素、核黄素、钴胺、抗坏血酸、泛醌和左卡尼汀。在1岁时，开始进行管状喂养以解决口腔摄取困难。在10岁时，由于反复的呼吸道感染，进行了气管切开术。在11岁时，患者出现心动过速、外周寒冷和腹泻。在CT上观察胰腺酶水平升高和无胆结石的胰腺增大，我们诊断为急性胰腺炎。十二指肠插管喂养是为了防止胰腺炎复发。尽管如此，患者还是有四到五次胰腺炎发作。
Leigh syndrome (LS) is a severe progressive neurodegenerative disease with symmetric necrotic lesions in the basal ganglia and brainstem due to mitochondrial dysfunction. LS is characterized by highly variable clinical features, including neurological symptoms, cardiac failure, hepatic failure, muscle symptoms, and digestive organ symptoms (1). Although there are some reports of acute pancreatitis in mitochondrial disease patients (2), there are few reports of LS patients. Additionally, since a high rate of psychomotor developmental delay is observed with LS, patients often cannot complain of symptoms indicative of pancreatitis, such as abdominal pain (3). Herein, we report the case of a LS patient with recurrent pancreatitis, emphasizing on her clinical features at admission. The informed consent for this case report was obtained from the patient’s parents.The patient was born at term with a birth weight of 3,096 g to non-consanguineous healthy parents. During infancy, she showed seizures and was diagnosed with LS based on elevated lactate levels, brain magnetic resonance imaging findings, and genetic analysis (homoplasmic m. 8993T> G variant). Treatment with antiepileptic drugs, including phenobarbital, zonisamide, and clobazam, and mitochondrial cocktail, including thiamine, riboflavin, cobalamin, ascorbic acid, ubiquinone, and levocarnitine, was initiated after confirmation of diagnosis. At age 1, tube feeding was initiated to address difficulties in oral intake. At age 10, tracheostomy was performed because of recurrent respiratory infections. At age 11, the patient presented with tachycardia, peripheral coldness, and diarrhea. Observing increased pancreatic enzyme levels and pancreatic enlargement without gallstones on computed tomography, we diagnosed acute pancreatitis. Duodenal tube feeding was initiated to prevent pancreatitis recurrence. Nonetheless, the patient had four to five episodes of pancreatitis
影响因子：
3.7
作者：
Sofou K;De Coo IF;Isohanni P;Ostergaard E;Naess K;De Meirleir L;Tzoulis C;Uusimaa J;De Angst IB;Lönnqvist T;Pihko H;Mankinen K;Bindoff LA;Tulinius M;Darin N
通讯作者：
Darin N
影响因子：
29.4
作者：
Biczo G;Vegh ET;Shalbueva N;Mareninova OA;Elperin J;Lotshaw E;Gretler S;Lugea A;Malla SR;Dawson D;Ruchala P;Whitelegge J;French SW;Wen L;Husain SZ;Gorelick FS;Hegyi P;Rakonczay Z Jr;Gukovsky I;Gukovskaya AS
通讯作者：
Gukovskaya AS