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临床病例讨论——第359例——智力、运动发育迟缓伴不自主运动16年

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摘要 患者男,16岁。因“智力、运动发育迟缓伴不自主运动16年”于2004年8月20日就诊于我院。生后6个月时家长发现其头部经常不自主晃动,但无抽搐及尖叫。患儿7个月翻身,8个月会坐,后家长发现患儿经常有轻微“头颤”;1周岁时仍不会走路,曾就诊于邓朴方残疾医院诊断为“恼瘫”(具体治疗不详)。患儿智力发育较迟缓,2岁多能够站立,4岁半开始走路,但不能独立行走,直到6岁时才会走路,
出处 《中华内科杂志》 CAS CSCD 北大核心 2008年第3期262-264,共3页 Chinese Journal of Internal Medicine
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参考文献5

  • 1Knerr I, Zschocke J, Trautmann U, et al. Glutaric aciduria type Ⅲ: a distinctive non-disease? J Inherit Metab Dis,2002,25:483- 490.
  • 2杨艳玲,木村正彦,袁云,钱宁,刘雪琴,张月华,包新华,吴晔,孙芳,宋金青,長谷川有紀,山口清次,重松陽介,秦炯,吴希如.戊二酸尿症Ⅱ型所致脂肪沉积性肌肉病的诊断与治疗分析[J].中华神经科杂志,2004,37(5):438-441. 被引量:32
  • 3Twomey EL, Naughten ER, Donoghue VB, et al. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol,2003 ,33 :823- 830.
  • 4Graham DI, Lantos PL. Greenfield's Neuropathology. 7th, ed. London : Arnold, 2002:507-508.
  • 5Kohler M, Hoffmann GF. Subdural haematoma in a child with glutaric aciduria type Ⅰ. Pediatr Radiol, 1998,28:582.

二级参考文献8

  • 1Przyrembel H,Wendel U,Becker K,et al.Glutaric aciduria type Ⅱ: report on a previously undescribed metabolic disorder.Clin Chim Acta,1976,66: 227-239.
  • 2Nyhan WL,Ozand PT,eds.Atlas of metabolic diseases.London: Chapman & Hall Medical,1998.245-251.
  • 3Kimura M,Yoon HR,Wasant P,et al.A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots.Clin Chim Acta,2002,316: 117-121.
  • 4Yamaguchi S,Orii T,Suzuki Y,et al.Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type Ⅱ.Pediat Res,1991,29: 60-63.
  • 5Mongini T,Doriguzzi C,Palmucci L,et al.Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.Eur Neurol,1992,32: 170-176.
  • 6Yamaguchi S,Shimizu N,Orii T,et al.Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type Ⅱ due to electron transfer flavoprotein (beta-subunit)deficiency.Pediatr Res,1991,30: 439-443.
  • 7Poplawski NK,Ranieri E,Harrison JR,et al.Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.J Pediatr,1999,134: 764-766.
  • 8Kimura M,Yamamoto T,Yamaguchi S.Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system.Tohoku J Exp Med,1999,188: 317-334.

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