Recent advance in hypothalamic neuronal hamartoma / 中华神经医学杂志

Hypothalamic neuronal hamartomas are rarely congenital developmental neuronal masses.They often attach to the third ventricle floor,mammillary bodies and tuber cinereum,and they are composed ofheterotopic gray matter,neurons,glia and myelinated fibers.This article summarizes the etiologies,pathologies,clinical manifestations and classifications,imaging features and therapy methods ofhypothalamic neuronal hamartomas.

Hamartomas hipotalámicos: distintas formas de debut. Casos clínicos / Hypothalamyc hamartomas: different ways of clinical debut. Cases report

Los hamartomas hipotalámicos son malformaciones no neoplásicas de sustancia gris compuestas por neuronas hiperplásicas. Suelen ser lesiones pequenas localizadas en la base del cerebro, en el piso del tercer ventrículo y, generalmente, asintomáticas. Sin embargo, pueden ocurrir con alteraciones conductuales-cognitivas, crisis epilépticas y/o signos de pubertad precoz central en función de la localización en la que se encuentren. Se presentan dos pacientes de 2 años 8 meses y 7 años, con presencia de hamartomas hipotalámicos diagnosticados tras el estudio de pubertad precoz central. La paciente de menor edad presenta, además, crisis gelásticas, típicamente asociadas a hamartomas hipotalámicos. Tras los hallazgos clínicos y radiológicos, se trataron con análogos de gonadotropinas, y se observó una regresión de los signos puberales y una no progresión del tamano de los hamartomas.

Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.

Study progress of pathogenesis and clinical treatment of gelastic epilepsy / 中华实用儿科临床杂志

Gelastic epilepsy is a special refractory epilepsy accompany with ictal laughing and/or crying which can be divided into cortical induced gelastic epilepsy and hypothalamic hamartomas induced gelastic epilepsy according to their epileptogenic focus.Currently, domestic scholars had lack of systematic understanding of the mechanism and clinical treatment involved in gelastic epilepsy.Recently, foreign scholars had achieved great progress in the research of gelastic epilepsy which included the ictal laughing mechanism in gelastic epilepsy, the primary molecular mechanism in hypothalamic hamartomas induced gelastic epilepsy, the secondary epileptogenesis mechanism in hypothalamic hamartomas induced gelastic epilepsy and the clinical treatment of gelastic epilepsy.Now, the study progress of pathogenesis and clinical treatment of gelastic epilepsy were reviewed.

Cryptogenic Gelastic Epilepsy of Fronto-Temporal Lobe Origin: A Case of Young Adulthood Onset / 대한간질학회지

Gelastic epilepsy characterized by paroxysmal involuntary laughing episodes is a relatively rare type of seizure which may occur singly or, more frequently, with other types of convulsions. Gelastic seizures have been observed in many different conditions, mainly hypothalamic hamartomas. We report a 21-year-old woman whose uncontrollable laughter was the only neurologic disturbance since 20 years of age. Physical and neurological examination did not reveal any abnormality. Neuropsychologic test was also normal. Brain magnetic resonance imaging was normal. During video-EEG monitoring, the clinical events usually consisted of aura of undescriable sensation lasting 1-2seconds followed by ictal laughter, without loss of consciousness and postictal manifestation. Ictal EEG showed bilateral interruption of background activity lasting 2-3seconds, followed by semirhythmic theta frequency activities over right frontotemporal region. Interictal EEG showed intermittent sharp waves or spike activities at right anterior temporal area. After Oxcarbamazepine treatment, she has never experienced the laughing seizures.