METHODS: Herein, we report a rare case of an 8-day-old female patient who presented with abnormal symptoms, such as difficulty eating, convulsions, slow reaction, difficulty in correcting hypoglycemia and severe metabolic disorders. Brain magnetic resonance imaging (MRI) revealed abnormal signal intensity mainly involving the brainstem, cervical spinal cord, bilateral cerebellar hemispheres, basal ganglia, thalamus, precentral gyrus, and postcentral gyrus with characteristic hyperintensity on diffusion-weighted imaging (DWI) sequence. MSUD is rarely reported, while cervical spinal cord involvement is extremely rare.
METHODS: Blood tandem mass spectrometry, urine organic acid detection, and genetic disease overall genetic tests were performed to further confirm the diagnosis of MSUD.
METHODS: Under general anesthesia, she underwent open surgical procedures for liver transplantation.
RESULTS: The child was in a stable condition after liver transplantation, and the diet was not restricted.
CONCLUSIONS: MSUD in neonates is rare. Our case report and literature review was aim to describe the clinic and imaging characteristics of it, and highlight physicians must be aware of this entity in newborns so as to reduce misdiagnosis due to unfamiliarity.
方法:这里,我们报告了一个罕见的病例,8天大的女性患者出现异常症状,比如进食困难,抽搐,慢反应,纠正低血糖和严重代谢紊乱的困难。脑磁共振成像(MRI)显示异常信号强度主要累及脑干,颈脊髓,双侧小脑半球,基底神经节,丘脑,中央前回,和弥散加权成像(DWI)序列上具有特征性高强度的中央后回。MSUD很少报道,而颈脊髓受累极为罕见。
方法:血液串联质谱,尿液有机酸检测,和遗传疾病的整体基因测试,以进一步确认MSUD的诊断。
方法:在全身麻醉下,她接受了肝脏移植的开放性手术。
结果:肝移植后患儿病情稳定,饮食不受限制。
结论:MSUD在新生儿中是罕见的。我们的病例报告和文献复习旨在描述其临床和影像学特征,强调医生必须意识到新生儿的这一实体,以减少因不熟悉而误诊。