Harvey A Simon, Freeman Jeremy L
Children's Epilepsy Program, Children's Neuroscience Centre, Royal Children's Hospital, Parkville, Melbourne, Australia.
Semin Pediatr Neurol. 2007 Jun;14(2):60-4. doi: 10.1016/j.spen.2007.03.003.
Hypothalamic hamartoma (HH) is a congenital malformation of the hypothalamus that may be asymptomatic or manifest with precocious puberty or seizures. Gelastic seizures often begin early in life, even in the newborn period, being manifest by frequent attacks of inappropriate laughter resulting from seizure activity in the HH. The scalp electroencephalogram (EEG) is often normal in children with gelastic seizures, such that the diagnosis of epilepsy and the finding of a HH are often delayed. In a proportion of children with HH, there is an epileptic progression, in which complex partial seizures with frontal, temporal, and lateralized clinical features appear, usually with the appearance of focal slowing and epileptiform activity on the interictal EEG. Further progression may ensue with the appearance of tonic or atonic drop attacks, generalized tonic-clonic seizures, and epileptic spasms; rarely, infantile spasms may be the presenting seizure type. With the appearance of generalized seizures, the interictal EEG shows bilaterally synchronous and generalized epileptiform activity, often in abundance. The mechanism of this evolution is incompletely understood but neocortical seizure propagation and secondary epileptogenesis are believed to be important. Paralleling the development of the focal and generalized electroclinical manifestations in children with HH is usually slowing of development and the appearance of behavioral problems. Fortunately, many of these neurologic manifestations can be arrested, or reversed, with effective surgical treatment directed at the HH.
下丘脑错构瘤（HH）是一种下丘脑先天性畸形，可能无症状，或表现为性早熟或癫痫发作。痴笑性癫痫通常在生命早期开始，甚至在新生儿期就出现，表现为因HH中的癫痫活动频繁发作而发出不适当的笑声。患有痴笑性癫痫的儿童头皮脑电图（EEG）通常正常，因此癫痫的诊断和HH的发现往往会延迟。在一部分HH患儿中，会出现癫痫进展，表现为具有额叶、颞叶和局灶性临床特征的复杂部分性发作，通常在发作间期脑电图上出现局灶性慢波和癫痫样活动。随着强直或失张力性跌倒发作、全身强直阵挛性发作和癫痫痉挛的出现，可能会进一步进展；很少有婴儿痉挛可能是首发的癫痫发作类型。随着全身性发作的出现，发作间期脑电图显示双侧同步且广泛的癫痫样活动，通常大量出现。这种演变的机制尚未完全了解，但新皮质癫痫传播和继发性癫痫发生被认为很重要。与HH患儿局灶性和全身性电临床表型的发展并行的通常是发育迟缓及行为问题的出现。幸运的是，针对HH进行有效的手术治疗，许多这些神经学表现可以得到控制或逆转。
