PDF(Pubmed)
Abstract：
Gyratory seizures (GS) are a rare seizure type characterized by body rotation of ≥180° around its vertical axis. While GS have been documented in various epileptic syndromes, their occurrence in association with hypothalamic hamartomas (HH) has not been reported previously. This case report introduces the first documented instance of GS in a patient with a HH, a non-neoplastic tumor originating from the tuber cinereum. The patient, a 25-year-old female, with a history of recurrent seizures since childhood, initially presented with gelastic seizures, marked by inappropriate laughter, and subsequent evolution of symptoms including right oculocephalic version and gyratory seizures to the right side. Despite multiple antiepileptic medications, seizures persisted. Neuroimaging revealed a HH in the right hypothalamic region. The presence of polydactyly prompted consideration of Pallister Hall syndrome (PHS). PHS is an autosomal dominant condition linked to GLI3 gene mutations. While some features of PHS were absent in this case, the presence of both gelastic and gyratory seizures indicated the hypothalamus as the lesion site, despite inconclusive electroencephalogram findings. This report underscores the novel association of GS with HH and highlights the importance of considering PHS in patients with HH and polydactyly presenting with gelastic and gyratory seizures. Understanding GS in HH may offer insights into broader hypothalamic lesion-related epileptic phenomena.
摘要：
回旋性癫痫发作（GS）是一种罕见的癫痫发作类型，其特征是身体围绕其垂直轴旋转≥180°。虽然GS已经在各种癫痫综合征中被证明，它们与下丘脑错构瘤（HH）相关的发生以前没有报道。此病例报告介绍了HH患者中第一个记录的GS实例，一种非肿瘤性肿瘤，起源于块茎灰质。病人,一个25岁的女性,从童年开始就有反复发作的病史，最初表现为有弹性的癫痫发作，以不恰当的笑声为标志，以及随后的症状演变，包括右侧眼颅版本和右侧回旋性癫痫发作。尽管有多种抗癫痫药物，癫痫持续。神经影像学显示右下丘脑区HH。多指的存在促使考虑了PallisterHall综合征（PHS）。PHS是与GLI3基因突变相关的常染色体显性病症。虽然在这种情况下没有小灵通的一些功能，有弹性和回旋性癫痫发作表明下丘脑是病变部位，尽管脑电图结果不确定。该报告强调了GS与HH的新颖关联，并强调了在HH和多指表现为弹性和回旋性癫痫发作的患者中考虑PHS的重要性。了解HH中的GS可能会提供更广泛的下丘脑病变相关癫痫现象的见解。
