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隐匿性坏血病,伴发神经精神症状。

Scurvy hidden behind neuropsychiatric symptoms.

机构信息

Department of Pediatric Neuroscience, National Neurological Institute C. Besta, via Celoria 11, 20133 Milan, Italy.

出版信息

Neurol Sci. 2011 Dec;32(6):1091-3. doi: 10.1007/s10072-011-0680-7. Epub 2011 Jul 28.

Abstract

Approaching an uncommon disease may result in diagnostic delay even in patients with typical clinical features. In this respect, diseases related to nutritional deficiencies may represent a diagnostic challenge. We describe a 2.5-year-old child with typical features of scurvy, who was referred for autistic-like behavior and severe muscle weakness and pain in lower limbs. Extensive investigations for non-nutrition-related disorders were first performed, including a muscle biopsy showing a selective type II fibers hypotrophy. Scurvy was eventually considered, after recalling the child's peculiar dietary habits.

摘要

在面对不常见的疾病时,即使患者具有典型的临床特征,也可能导致诊断延迟。在这方面,与营养缺乏相关的疾病可能构成诊断挑战。我们描述了一例具有典型坏血病特征的 2.5 岁儿童,因自闭症样行为和下肢严重肌肉无力和疼痛而就诊。首先对非营养相关疾病进行了广泛的检查,包括肌肉活检显示选择性 II 型纤维萎缩。在回忆起患儿特殊的饮食习惯后,最终考虑为坏血病。

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