儿童Wernicke's脑病1例并35例文献复习

目的 探讨儿童Wernicke's脑病临床特点以及诊断与治疗,提高对该病的认识.方法 总结1例以严重脓毒症为首发表现的儿童Wernicke's脑病的临床表现、诊断及治疗特点,并对国内外近10年报道的35例儿童病例进行文献复习.结果 包括本例患儿共36例,男22/36例,年龄2个月～16岁.除本例外均有基础疾病:喂养不当25/35例、长期呕吐5/35例、免疫抑制治疗4/35例、长期完全胃肠外营养(未添加维生素)3/35例以及神经性厌食1/35例;有典型临床"三联征(精神状态改变、眼部体征以及共济失调)"6/36例,其他临床表现:意识障碍24/36例、感染22/36例、神经病理征及肌张力改变18/36例、惊厥17/36例,发育迟缓4/36例、生长停滞2/36例.行脑脊液常规检测31/36例,异常7/31例(蛋白略增高);检测脑脊液乳酸水平4/36例,均增高;血清乳酸水平检测7/36例、6/7例增高;血清丙酮酸检测4/36例,均增高;硫胺索焦磷酸盐活力(TPPE)检测9/36例,均增高;血清硫胺素水平检测2/36例、1/2例降低;行颅脑CT检查20/36例,16/20例双基底节区低密度、1/20例弥漫性脑皮质萎缩;行颅脑MRI检查13/36例,均表现为双侧对称性乳头体、基底节区异常信号、7/13例还表现中脑被盖、中央导水管及Ⅲ、Ⅳ脑室周围白质区异常信号.诊断方法:在行颅脑MRI的13例中,根据MRI确立诊断12/13例、"三联征"+MRI确立3/13例、根据尸检1/13例;行TPPE和(或)乳酸测定11例中,确立诊断9/11例.初始治疗:33/36例经胃肠外补充硫胺素、1/36例给药方式不详、1/36例经口服给药、1/36例未补充;硫胺素剂量:29/35例每日100 mg、3/35例剂量不详、2/35例每日50 mg、1/35例每日600 mg.初始治疗后34/35例临床症状在24 h～1周内缓解,1/36例无反应死亡.存活34例中,19例接受随访,2～2.5个月内17/19例完全康复.结论 儿童Wernicke's脑病常无特异性临床表现,误诊率较高,颅脑MRI特征性表现为双侧乳头体、基底节区、中央导水管周围区等对称性异常信号.特征性颅脑MRI异常信号结合临床硫胺素治疗后快速反应有助于临床诊断.早期、及时补充大剂量硫胺素后,多数病例神经学异常可快速改善,预后良好.

Abstract：

Objective Wernicke's encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine deficiency, which is associated with significant morbidity and mortality. The disorder is still greatly underdiagnosed in children because of either a relatively non-specific clinical presentation in some cases or unrecognized clinical setting The aim of this literature review was to provide knowledge of pediatric WE in an effort to assist in early diagnosis, thereby reducing the morbidity and mortality. Methods The clinical manifestations, characteristic magnetic resonance imaging ( MRI), diagnosis and treatment of one case and the other 35 cases reported in the last decade in children were summarized. Results Thirty-six cases (22 boys and 14 girls, 2-month to 16-year-old) were analyzed. All the other 35 cases except for our case had underlying diseases: improper feeding in 25/35 cases, long-time vomiting in 5/35 cases,immunosuppressive therapy in 4/35 cases, long-time total parenteral nutrition without multivitamin preparations supplementation in 3/35 cases and anorexia nervosa in 1/35 case. The classic triad ( mentalstatus changes, nystagmus and ophthalmoplegia, and ataxia) was seen in 6/36 cases. The other clinical manifestations included consciousness disturbance in 24/36 cases, infection in 22/36 cases, pathological reflex and muscular tension changes in 18/36 cases, convulsion in 17/36 cases, developmental delay in 4/36 cases and failure to thrive in 2/36 cases. Cerebrospinal fluid examination was performed in 31/36 cases,and a slightly raised protein concentration was seen in 7/31 cases. The cerebrospinal fluid lactate levels were detected in 4/36 cases ( all increased ), serum lactic acid levels in 7/36 cases ( 6/7 cases increased ),serum pyruvate in 4/36 cases ( all increased), thiamine pyrophosphate effect ( TPPE ) in 9/36 cases ( all increased), and serum thiamine in 2/36 cases (increased in 1/2 cases). The brain computed tomography (CT) scan was conducted in 20/36 cases and 16/20 cases showed abnormal hypodensity in bilateral basal ganglia, one case revealed diffuse cortical atrophy. The brain MR scan was conducted in 13/36 cases and all the 13 cases revealed symmetrical abnormal signal in bilateral mamillary body and basal ganglia, and 7/13 cases showed abnormal signals in the tegmentum of midbrain, cerebral aqueduct and white matter around the third and fourth ventricles. The diagnosis of WE was confirmed by MR in 12 cases, triad combined with MR in 3 cases, autopsy in 1 case among the 13 cases who underwent MR scan. The diagnosis of WE was confirmed by the TPPE and/or lactate levels in 9/11 cases. The initial thiamine was given by intravenous or intramuscular infusion in 33/36 cases, unknown method in 1 case, orally in 1 case and no thiamine was used in 1 case. The dosage of thiamine was 100 mg daily in 29/35 cases, unknown in 3/35 cases, 50 mg daily in 2/35 cases, 600 mg daily in 1/35 case. 34/35 patients' clinical symptoms improved during 24 hours to 1 week after initial treatment, and 1 case died due to no response to thiamine. Nineteen patients were followed up for 2-2. 5 months and 17 cases recovered completely. Conclusion Wernicke' s encephalopathy can be difficult to diagnose because of a relatively non-specific clinical presentation. The characteristic MRI findings and the dramatic response of neurological signs to parenteral thiamine will assist early clinical diagnosis.Early and timely thiamine supplementation could reverse the clinical features and improve the prognosis in most cases.

Severe sepsis as an initial presentation in children with Wernicke' s encephalopathy: report of a case and literature review

Objective Wernicke's encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine deficiency, which is associated with significant morbidity and mortality. The disorder is still greatly underdiagnosed in children because of either a relatively non-specific clinical presentation in some cases or unrecognized clinical setting The aim of this literature review was to provide knowledge of pediatric WE in an effort to assist in early diagnosis, thereby reducing the morbidity and mortality. Methods The clinical manifestations, characteristic magnetic resonance imaging ( MRI), diagnosis and treatment of one case and the other 35 cases reported in the last decade in children were summarized. Results Thirty-six cases (22 boys and 14 girls, 2-month to 16-year-old) were analyzed. All the other 35 cases except for our case had underlying diseases: improper feeding in 25/35 cases, long-time vomiting in 5/35 cases,immunosuppressive therapy in 4/35 cases, long-time total parenteral nutrition without multivitamin preparations supplementation in 3/35 cases and anorexia nervosa in 1/35 case. The classic triad ( mentalstatus changes, nystagmus and ophthalmoplegia, and ataxia) was seen in 6/36 cases. The other clinical manifestations included consciousness disturbance in 24/36 cases, infection in 22/36 cases, pathological reflex and muscular tension changes in 18/36 cases, convulsion in 17/36 cases, developmental delay in 4/36 cases and failure to thrive in 2/36 cases. Cerebrospinal fluid examination was performed in 31/36 cases,and a slightly raised protein concentration was seen in 7/31 cases. The cerebrospinal fluid lactate levels were detected in 4/36 cases ( all increased ), serum lactic acid levels in 7/36 cases ( 6/7 cases increased ),serum pyruvate in 4/36 cases ( all increased), thiamine pyrophosphate effect ( TPPE ) in 9/36 cases ( all increased), and serum thiamine in 2/36 cases (increased in 1/2 cases). The brain computed tomography (CT) scan was conducted in 20/36 cases and 16/20 cases showed abnormal hypodensity in bilateral basal ganglia, one case revealed diffuse cortical atrophy. The brain MR scan was conducted in 13/36 cases and all the 13 cases revealed symmetrical abnormal signal in bilateral mamillary body and basal ganglia, and 7/13 cases showed abnormal signals in the tegmentum of midbrain, cerebral aqueduct and white matter around the third and fourth ventricles. The diagnosis of WE was confirmed by MR in 12 cases, triad combined with MR in 3 cases, autopsy in 1 case among the 13 cases who underwent MR scan. The diagnosis of WE was confirmed by the TPPE and/or lactate levels in 9/11 cases. The initial thiamine was given by intravenous or intramuscular infusion in 33/36 cases, unknown method in 1 case, orally in 1 case and no thiamine was used in 1 case. The dosage of thiamine was 100 mg daily in 29/35 cases, unknown in 3/35 cases, 50 mg daily in 2/35 cases, 600 mg daily in 1/35 case. 34/35 patients' clinical symptoms improved during 24 hours to 1 week after initial treatment, and 1 case died due to no response to thiamine. Nineteen patients were followed up for 2-2. 5 months and 17 cases recovered completely. Conclusion Wernicke' s encephalopathy can be difficult to diagnose because of a relatively non-specific clinical presentation. The characteristic MRI findings and the dramatic response of neurological signs to parenteral thiamine will assist early clinical diagnosis.Early and timely thiamine supplementation could reverse the clinical features and improve the prognosis in most cases.