Department of Pediatric Neuroscience, National Neurological Institute C. Besta, via Celoria 11, 20133 Milan, Italy.
Neurol Sci. 2011 Dec;32(6):1091-3. doi: 10.1007/s10072-011-0680-7. Epub 2011 Jul 28.
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.
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。