Serarslan Yurdal, Melek Ismet Murat, Sangün Ozlem, Akçora Bülent, Akdemir Gökhan
Mustafa Kemal University, Tayfur Ata Sökmen Medical School, Department of Neurosurgery, Hatay, Turkey.
Turk Neurosurg. 2008 Apr;18(2):172-6.
A 45-month-old child who had bitemporal arachnoid cysts and macrocephaly unrelated to glutaric aciduria type 1 (GA 1) was reported. The patient was admitted to the emergency unit after head trauma at 11 months of age. CT and MRI showed bitemporal arachnoid cysts (BACs). Acylcarnitine profile was normal in serum using tandem mass spectrometry. Urine and blood screening tests were within normal range for metabolic disorders. There were no unusual organic acids in urine and blood samples. No additional clinical findings of metabolic disorders such as GA 1 developed during follow-up. The majority of children affected with GA 1 have macrocephaly and BACs on CT or MRI. These signs should alert neurosurgeons to the possibility of GA 1. Neurosurgeons evaluating patients with head trauma or suspected non-accidental head injury should include GA 1 in the differential diagnosis of BACs associated with macrocephaly, and an evaluation should be performed.
报告了一名45个月大的儿童，其患有双侧颞叶蛛网膜囊肿和巨头畸形，与1型戊二酸尿症（GA 1）无关。该患者在11个月大时头部受伤后被送入急诊室。CT和MRI显示双侧颞叶蛛网膜囊肿（BACs）。采用串联质谱法检测血清中酰基肉碱谱正常。尿液和血液筛查试验在代谢紊乱方面均在正常范围内。尿液和血液样本中没有异常有机酸。随访期间未出现GA 1等代谢紊乱的其他临床发现。大多数受GA 1影响的儿童有巨头畸形以及CT或MRI上显示的BACs。这些体征应提醒神经外科医生注意GA 1的可能性。评估头部外伤或疑似非意外性头部损伤患者的神经外科医生应将GA 1纳入与巨头畸形相关的BACs的鉴别诊断中，并应进行评估。
