Manjila Sunil, Vogel Timothy W, Chen Yunwei, Rodgers Mark S, Cohen Alan R
Division of Pediatric Neurosurgery, Rainbow Babies and Children's Hospital, Department of Neurological Surgery, Neurological Institute;
J Neurosurg Pediatr. 2014 Jul;14(1):101-7. doi: 10.3171/2014.4.PEDS13371. Epub 2014 May 16.
Hypothalamic hamartomas (HHs) are rare developmental lesions arising from the inferior hypothalamus that may cause gelastic seizures and central precocious puberty. Cystic changes in HHs are rare, usually occurring in giant lesions. The authors describe an unusual case of cystic HH masquerading as a suprasellar arachnoid cyst in an 18-month-old girl presenting with precocious puberty. Microsurgical removal of the lesion led to complete resolution of the precocious puberty on long-term follow-up. This case is the first reported HH with pathological demonstration of corticotropin-releasing hormone immunostaining in the solid tumor and glial cells in the cyst wall of the lesion. The clinical and radiological characteristics of HHs are reviewed, along with the unique surgical strategies used to manage cystic lesions in the suprasellar region.
下丘脑错构瘤(HHs)是一种罕见的起源于下丘脑下部的发育性病变,可导致痴笑性癫痫和中枢性性早熟。HHs中的囊性变罕见,通常发生于巨大病变中。作者描述了一例不寻常的病例,一名18个月大患有性早熟的女孩,其囊性HH伪装成鞍上蛛网膜囊肿。对该病变进行显微手术切除,长期随访显示性早熟完全缓解。该病例是首例报道的HH,其实性肿瘤及病变囊壁神经胶质细胞中促肾上腺皮质激素释放激素免疫染色有病理学证据。本文回顾了HHs的临床和影像学特征,以及用于处理鞍上区域囊性病变的独特手术策略。