RESUMEN
AIM: We describe the clinical features, treatment and prognosis in a series of patients with epilepsy secondary to hypothalamic hamarthomas (HH) in a developing country. MATERIALS AND METHODS: Eight patients with epilepsy and HH were included between 1997 and 2006. We analyzed gender, age, age at seizure onset (ASO), seizure types (ST), mental retardation (MR), precocious puberty (PP), electroencephalogram (EEG)-magnetic resonance imaging (MRI) features and response to treatment. RESULTS: Mean age 25.1 years, 2/6 female/male, none had PP, ASO 4.5 years. Complex partial seizure were the most frequent (100%), mean similar to those seen in temporal (62.5%) or frontal lobe epilepsy (37.5%). Exactly 87.5% developed gelastic seizures (GS). Half of the patients showed MR. Mild-to-severe MR was associated with the presence of multiple ST including atonic and complex partial seizures with frontal semiology. Interictal EEG was abnormal in 87.5% patients. Video EEG was performed in three cases with unspecific findings. HH were small and sessile in seven patients whereas large and pedunculated in one. All patients were refractory to medical treatment. In five, an additional procedure was performed without any significant improvement. CONCLUSION: These series show the heterogeneous spectrum of this entity and the difficulties in its treatment in a developing country.
Asunto(s)
Hamartoma/diagnóstico , Hamartoma/terapia , Enfermedades Hipotalámicas/diagnóstico , Enfermedades Hipotalámicas/terapia , Adolescente , Adulto , Argentina , Trastornos del Conocimiento/epidemiología , Comorbilidad , Países en Desarrollo , Electroencefalografía , Epilepsia Parcial Compleja/epidemiología , Epilepsia Parcial Compleja/fisiopatología , Femenino , Hamartoma/complicaciones , Humanos , Enfermedades Hipotalámicas/complicaciones , Hipotálamo/patología , Hipotálamo/fisiopatología , Hipotálamo/cirugía , Imagen por Resonancia Magnética , Masculino , Neurología/métodos , Neurocirugia/métodos , Procedimientos Neuroquirúrgicos , Prevalencia , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
Gene therapy, the transfer of genetic material for therapeutic purposes, has undergone an explosive development in the last few years. Within this context, development of gene therapy approaches for the neuroendocrine system, while incipient, has already generated a core of results which emerge as a promising area of research in neuroendocrinology. The present review presents a brief description of the viral vector-based gene delivery systems being currently used in neuroendocrinology, namely the adenoviral and herpes simplex type-1 (HSV-1)-derived vector systems, as well as an updated account of neuroendocrine pathologies for which gene therapy approaches in animal models are being implemented is provided. Current research efforts include treatment of experimental pituitary tumors by adenoviral vector-mediated transfer of the suicide gene for the HSV-1 thymidine kinase, which converts the prodrug ganciclovir into a toxic metabolite. An adenoviral vector encoding the human retinoblastoma suppressor oncogene has also been successfully used to rescue the phenotype of spontaneous pituitary tumors of the pars intermedia in mice. At the hypothalamic level, an adenovirus harboring the cDNA for arginine vasopressin has been used in Brattleboro rats to correct diabetes insipidus for several weeks. The last part of the review outlines the potential of gene therapy to correct age-associated neurodegenerative processes at the neuroendocrine level. Although effective implementation of gene therapy strategies still faces significant technical obstacles, these are likely to be progressively overcome as gene delivery systems are being improved.
Asunto(s)
Modelos Animales de Enfermedad , Terapia Genética , Vectores Genéticos , Sistemas Neurosecretores , Adenoviridae/genética , Animales , Arginina Vasopresina/genética , Diabetes Insípida/genética , Diabetes Insípida/terapia , Transferencia de Gen Horizontal , Genes de Retinoblastoma/genética , Herpesvirus Humano 1/genética , Humanos , Enfermedades Hipotalámicas/genética , Enfermedades Hipotalámicas/terapia , Neoplasias Hipofisarias/genética , Neoplasias Hipofisarias/terapia , Timidina Quinasa/genéticaRESUMEN
Hypothalamic hamartomas are non neoplastic lesions that may cause precocious puberty with or without complex seizures, personality disorders and mental retardation. We report a 14 years old male that had a precocious puberty at the age of 11 and a prolonged episode of altered sensorium with automatism, that was diagnosed as a complex seizure. Physical examination showed a sexual development classified as Tanner stage III-IV, a height of 168 cm and a weight of 61 kg. Neurological examination was normal. A CAT scan showed a 13 x 13 x 9 mm mass in the suprasellar cistern, between the infundibulum and the brain stem, without exerting a mass effect over adjacent structures. It was diagnosed as an hypothalamic hamartoma.
Asunto(s)
Hamartoma/complicaciones , Enfermedades Hipotalámicas/complicaciones , Pubertad Precoz/etiología , Adolescente , Hamartoma/terapia , Humanos , Enfermedades Hipotalámicas/terapia , Masculino , Pubertad Precoz/diagnósticoRESUMEN
Se presenta el caso de un ciclo conceptivo en una paciente portadora de amenorrea hipotalámica, cuya inducción de ovulación se efectuó con infusión pulsátil de factor liberador de gonadotrofina (GnRH). La inducción de ovulación se realizó con bomba de infusión pulsátil (Zyklomat Alemania Federal) programada para la administración de 5 ug de GnRH cada 90 minutos durante 33 días. El desarrollo folicular fue monitorizado mediante ultrasonografía, evaluación clínical del moco cervical y mediciones plasmáticas diarias de LH (hormona leuteinizante), FSH (hormona folículo estimulante) E2 (estradiol) yP (progesterona). Tanto el perfil hormonal como el seguimiento ecográfico fueron compatibles con ciclo ovulatorio con folículo único. El día 20 posovulatorio se midió Subunidad B de gonadotrofina coriónica (BHSG) la cual alcanzó niveles de 820 mUI/ml indicando la presencia de un ciclo conceptivo confirmado posteriormente con ecografía