Visual loss and optic nerve head swelling in thiamine deficiency without prolonged dietary deficiency

Visual loss and optic nerve head swelling in thiamine deficiency without prolonged dietary deficiency
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DOI:
10.2147/opth.s64228
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发表时间:
2014-01-01
影响因子:
2.2
通讯作者:
Lam, Byron L.
Lam, Byron L.
中科院分区:
其他
文献类型:
--
作者:
Gratton, Sean M.;Lam, Byron L.

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视神经病变引起的视力丧失是硫胺素缺乏症的一种罕见表现。我们报告一例39岁女性,体重指数(BMI)为29 kg/m2,在短暂的自限性胃肠道疾病后出现视力丧失和双侧视神经乳头肿胀。她迷失方向,注意力不集中,踝反射消失,双腿膝盖以下感觉减弱,躯干共济失调明显。磁共振成像(MRI)显示内侧丘脑和乳头体T2信号增加。血清硫胺素水平为8 nmol/L(正常值8-30)。诊断为硫胺素缺乏症,患者的视力和神经系统症状明显改善与肌内硫胺素治疗。硫胺素缺乏症可以发生在没有明显的诱发因素,如酗酒或低体重。临床医生必须了解控制维生素可用性的因素,并保持高度的怀疑指数,以便在这种情况下做出诊断。
Visual loss due to optic neuropathy is a rare manifestation of thiamine deficiency. We report a case of a 39-year-old woman with a body mass index (BMI) of 29 kg/m(2) who developed visual loss and bilateral optic nerve head swelling after a short, self-limited gastrointestinal illness. She was disoriented and inattentive and had absent ankle jerk reflexes, diminished sensation in both legs below the knees, and marked truncal ataxia. Magnetic resonance imaging (MRI) showed increased T2-signal in the medial thalami and mammillary bodies. The serum thiamine level was 8 nmol/L (normal 8-30). The diagnosis of thiamine deficiency was made, and the patient's vision and neurologic symptoms improved significantly with intramuscular thiamine treatment. Thiamine deficiency can occur in the absence of an obvious predisposing factor such as alcoholism or low body weight. The clinician must be aware of the factors that govern vitamin availability and maintain a high index of suspicion to make the diagnosis in such cases.