Arita K, Ikawa F, Kurisu K, Sumida M, Harada K, Uozumi T, Monden S, Yoshida J, Nishi Y
Department of Neurosurgery, Hiroshima University School of Medicine, Japan.
J Neurosurg. 1999 Aug;91(2):212-20. doi: 10.3171/jns.1999.91.2.0212.
Hypothalamic hamartoma is generally diagnosed based on its magnetic resonance (MR) imaging characteristics and the patient's clinical symptoms, but the relationship between the neuroradiological findings and clinical presentation has never been fully investigated. In this retrospective study the authors sought to determine this relationship.
The authors classified 11 cases of hypothalamic hamartoma into two categories based on the MR findings. Seven cases were the "parahypothalamic type," in which the hamartoma is only attached to the floor of the third ventricle or suspended from the floor by a peduncle. Four cases were the "intrahypothalamic type," in which the hamartoma involved or was enveloped by the hypothalamus and the tumor distorted the third ventricle. Six patients with the parahypothalamic type exhibited precocious puberty, which was controlled by a luteinizing hormone-releasing hormone analog, and one patient was asymptomatic. No seizures or mental retardation were observed in this group. All patients with the intrahypothalamic type had medically intractable seizures, and precocious puberty was seen in one. Severe mental retardation and behavioral disorders including aggressiveness were seen in two patients. The seizures were controlled in only one patient, in whom stereotactically targeted irradiation of the lesion was performed. This topology/symptom relationship was reconfirmed in a review of 61 reported cases of hamartoma, in which the MR findings were clearly described. The parahypothalamic type is generally associated with precocious puberty but is unaccompanied by seizures or developmental delay, whereas the intrahypothalamic type is generally associated with seizures. Two thirds of patients with the latter experience developmental delays, and half also exhibit precocious puberty.
Classification of hypothalamic hamartomas into these two categories based on MR findings resulted in a clear correlation between symptoms and the subsequent clinical course.
下丘脑错构瘤通常根据其磁共振成像特征及患者临床症状进行诊断，但神经放射学表现与临床表现之间的关系从未得到充分研究。在这项回顾性研究中，作者试图确定这种关系。
作者根据磁共振成像结果将11例下丘脑错构瘤分为两类。7例为“下丘脑旁型”，即错构瘤仅附着于第三脑室底部或通过蒂从底部悬吊。4例为“下丘脑内型”，即错构瘤累及或被下丘脑包绕，肿瘤使第三脑室变形。6例下丘脑旁型患者表现为性早熟，可通过促黄体生成素释放激素类似物控制，1例患者无症状。该组未观察到癫痫发作或智力发育迟缓。所有下丘脑内型患者均有药物难治性癫痫发作，1例出现性早熟。2例患者出现严重智力发育迟缓及包括攻击性在内的行为障碍。仅1例患者的癫痫发作得到控制，该患者接受了病变的立体定向靶向照射。在对61例错构瘤报告病例的回顾中再次证实了这种拓扑结构/症状关系，这些病例的磁共振成像结果有清晰描述。下丘脑旁型通常与性早熟相关，但无癫痫发作或发育迟缓，而下丘脑内型通常与癫痫发作相关。后者三分之二的患者有发育迟缓，半数患者也有性早熟。
根据磁共振成像结果将下丘脑错构瘤分为这两类，可使症状与后续临床病程之间呈现明显相关性。
