Turrini Ida, Guidetti Clotilde, Contaldo Ilaria, Pulitanò Silvia, Rigante Donato, Veredice Chiara
Pediatric Neurology Unit, Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Pediatric Intensive Care Unit, Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Diseases. 2024 May 24;12(6):112. doi: 10.3390/diseases12060112.
Wernicke encephalopathy (WE) is an acute and potentially fatal neuropsychiatric disorder resulting from thiamine deficiency: its etiology and clinical presentation can be heterogeneous and arduously recognized, especially in children and adolescents.
An 8-year-old girl arrived to the emergency room with ataxic gait, nystagmus, and mental confusion after a 10-day history of repeated severe vomiting; her recent clinical history was characterized by restricted nutrition due to a choking phobia, which caused substantial . Brain magnetic resonance imaging revealed a bilaterally increased T2 signal in the medial areas of the thalami and cerebral periaqueductal region. Diagnosis of WE based on clinical and neuroradiological findings was established and confirmed after labwork showing low serum thiamine. Following psychiatric evaluation, the patient was also diagnosed with avoidance-restrictive food intake disorder (ARFID), which required starting cognitive behavioral therapy and introducing aripiprazole. The patient displayed improvement of the radiological findings after one month and complete resolution of her neurological symptoms and signs.
Eating disorders like ARFID might forerun acute signs of WE; this possibility should be considered even in pediatric patients, especially when atypical neurological pictures or feeding issues come out.
韦尼克脑病(WE)是一种因硫胺素缺乏引起的急性且可能致命的神经精神障碍;其病因和临床表现可能具有异质性,且难以识别,尤其是在儿童和青少年中。
一名8岁女孩在经历了10天反复严重呕吐后,因共济失调步态、眼球震颤和精神错乱被送往急诊室;她近期的临床病史特点是因噎食恐惧症导致营养摄入受限,这造成了严重后果。脑部磁共振成像显示丘脑内侧区域和脑导水管周围区域的T2信号双侧增强。基于临床和神经影像学检查结果诊断为韦尼克脑病,并在实验室检查显示血清硫胺素水平较低后得到证实。经过精神科评估,该患者还被诊断为回避性限制性食物摄入障碍(ARFID),这需要开始认知行为疗法并引入阿立哌唑。一个月后患者的影像学检查结果有所改善,神经症状和体征完全消失。
像ARFID这样的饮食失调可能是韦尼克脑病急性症状的先兆;即使在儿科患者中也应考虑这种可能性,尤其是当出现非典型神经症状或喂养问题时。