Assuntos
Hamartoma/patologia , Doenças Hipotalâmicas/patologia , Síndrome de Pallister-Hall/patologia , Determinação da Idade pelo Esqueleto , Pré-Escolar , Diagnóstico Diferencial , Pé/diagnóstico por imagem , Hamartoma/diagnóstico , Hamartoma/diagnóstico por imagem , Mãos/inervação , Humanos , Doenças Hipotalâmicas/diagnóstico , Doenças Hipotalâmicas/diagnóstico por imagem , Extremidade Inferior/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Síndrome de Pallister-Hall/diagnóstico , Síndrome de Pallister-Hall/diagnóstico por imagem , PrognósticoRESUMO
Four patients with leukoencephalopathy with vanishing white matter from three unrelated Brazilian families are reported. In all cases the initial symptoms occurred in the three first years of life. In three cases the onset was acute and at least in two patients the involvement of the white matter preceded the clinical symptoms. Only cerebellar and pyramidal signs were present and persisted throughout the evolution. An episodic course with worsening of the symptoms during febrile illnesses was noted in one patient. In three patients a significant deceleration of the head growth was noted. In one family, brother and sister were affected but the twin brother of the boy was free from the disease. In another family, the patient had a sister who died at 13 years of age from an identical disease not diagnosed at that time. In one family, the parents were first cousins. In all patients, serial magnetic resonance imaging and magnetic resonance spectroscopy showed the characteristic picture of the involvement of the white matter with increasing signal intensity close to that of the cerebrospinal fluid.
Assuntos
Encefalopatias/patologia , Encéfalo/patologia , Brasil , Pré-Escolar , Saúde da Família , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Fibras Nervosas Mielinizadas/patologiaRESUMO
Subacute sclerosing panencephalitis (SSPE) is an inflammatory neurodegenerative disease related to the persistence of measles virus. Although its frequency is declining because of measles eradication, we still have some cases being diagnosed. With the aim to describe epidemiological aspects of SSPE in Brazil, we sent a protocol to Child Neurologists around the contry, 48 patients were registered, 27 (56 per cent) were from the southeast region, 34 (71 per cent) were male and 35 (73 per cent) white, 27 (56 per cento) had measles, 9 (19 per cent) had measles and were also immunized, 7 (14 per cent) received only immunization, 1 patient had a probable neonatal form. Mean time between first symptoms and diagnosis was 12 months (22 started with myclonus or tonic-clonic seizures, 7 (14 per cent) with behavioral disturbances); 36 patients (75 per cent) had EEG with pseudoperiodic complexes. Follow up performed in 28 (58 per cent) patients showed: 12 died, 2 had complete remission and the others had variable neurological disability Our data shows endemic regions in the country, a high incidence of post-immunization SSPE and a delay between first symptom and diagnosis.