University Institute of Neurological Sciences and Psychiatry, Ankara, Turkey.
Epileptic Disord. 2011 Jun;13(2):209-13. doi: 10.1684/epd.2011.0440.
Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies. Contrary to patients with isolated HH, neurological dysfunction and precocious puberty are uncommon and seizures are usually well controlled with anticonvulsant medication. Therefore, conservative management of HH is advised. To the best of our knowledge, seven cases of PHS with surgical resection of the HH have so far been reported. Five patients were either seizure-free or had >90% seizure reduction postoperatively. Here, we present a case of PHS of a patient who also underwent transcallosal endoscopic resection of the HH with a subsequent 70% reduction in seizure frequency.
帕里斯特-霍尔综合征（PHS）是一种非常罕见的综合征，其特征为下丘脑错构瘤（HH）、多指畸形、垂体功能减退、肛门闭锁和其他内脏异常。与孤立性 HH 患者不同，神经功能障碍和性早熟并不常见，且癫痫通常可以通过抗癫痫药物得到很好的控制。因此，建议对 HH 进行保守治疗。据我们所知，目前已经有 7 例 PHS 患者接受了 HH 的手术切除，其中 5 例患者术后无癫痫发作或癫痫发作减少>90%。在此，我们报告 1 例 PHS 患者的病例，该患者还接受了经胼胝体内镜 HH 切除术，术后癫痫发作频率降低了 70%。
