Miller Jeffrey H, Limbrick David D, Callen Matthew, Smyth Matthew D
Department of Neurosurgery, St. Louis Children's Hospital, Washington University, St. Louis, Missouri 63110-1077, USA.
J Neurosurg Pediatr. 2008 Nov;2(5):317-9. doi: 10.3171/PED.2008.2.11.317.
The spontaneous resolution of isolated tonsillar ectopia in Chiari malformation Type I (CM-I) is a known and reported entity in 2 previous single study case reports. However, it has not been previously described in monozygotic twins. Two children, approximately 1 year of age with CM-I and presumed episodes of pallid syncope or breath-holding spells presented for neurosurgical evaluation. Although Chiari decompression was considered, the authors decided to proceed with conservative management with close follow-up due to the uncertain nature of these episodes. Approximately 4 years later, both children's symptoms had resolved. Repeated MR imaging examinations also showed spontaneous resolution of the malformation in both girls. These cases emphasize that when patients with CM-I present with atypical symptoms, spontaneous resolution or improvement is possible, which may influence the decision to pursue a trial of nonsurgical management. The possible pathophysiological mechanisms and genetic influences of CM-I are also briefly discussed.
在之前两篇单病例研究报告中，I型Chiari畸形（CM-I）中孤立性扁桃体异位的自发消退是一个已知且有报道的现象。然而，此前在单卵双胞胎中尚未有过描述。两名约1岁的患有CM-I且疑似出现苍白性晕厥或屏气发作的儿童前来接受神经外科评估。尽管考虑过进行Chiari减压手术，但由于这些发作性质不确定，作者决定采取保守治疗并密切随访。大约4年后，两个孩子的症状都已消失。重复的磁共振成像检查也显示，两个女孩的畸形均自发消退。这些病例强调，当CM-I患者出现非典型症状时，自发消退或改善是有可能的，这可能会影响是否进行非手术治疗试验的决策。文中还简要讨论了CM-I可能的病理生理机制和遗传影响。
