Assuntos
Degenerações Espinocerebelares/etiologia , Trigêmeos , Fatores Etários , Família , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Fifty two cases of haemangioblastoma were reviewed for their clinical, genetic and prognostic features. Of 34 patients with apparently isolated cerebellar lesions, postoperative outcome was good in 79%. Six isolated spinal lesions presented more insidiously and morbidity was related to incomplete resection. Twelve (23%) of the patients definitely had von Hippel-Lindau disease (VHLD). The true proportion may be higher as this diagnosis was not definitely excluded in many of the remainder; only ten patients with seemingly isolated cerebellar tumours were appropriately investigated and two had evidence of VHLD. Four out of 26 cases (15%) with apparently completely resected, isolated, cerebellar lesions later developed recurrent tumours. Brainstem and supratentorial haemangioblastomas were rare and were always associated with VHLD. The cerebellar or spinal haemangioblastomas due to VHLD had no distinctive clinical features compared with isolated tumours and there was considerable overlap in age of onset between the two groups of cases. All patients with an apparently isolated CNS haemangioblastoma should be investigated for evidence of von Hippel-Lindau disease.
Assuntos
Neoplasias Encefálicas/genética , Neoplasias Cerebelares/genética , Hemangiossarcoma/genética , Neoplasias da Medula Espinal/genética , Adolescente , Adulto , Idoso , Neoplasias Encefálicas/diagnóstico , Neoplasias Cerebelares/diagnóstico , Feminino , Seguimentos , Hemangiossarcoma/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Neoplasias da Medula Espinal/diagnóstico , Doença de von Hippel-Lindau/genéticaRESUMO
This study reports on the value of head injury instruction cards as purveyors of information to patients. Patients over 10 years old attending the North Staffordshire Royal Infirmary Accident and Emergency Department with a mild head injury were invited to attend a special brain injury follow-up clinic, where they were asked to complete a questionnaire. Patients failing to attend this clinic were contacted and asked to complete the questionnaire. This revealed that they were no less severely affected by the injury as the attenders. They were asked why they had not attended and a significant number of patients had no recall of being given a head injury instruction card on which the information of the follow-up clinic was given. Memory loss was the most likely cause of this and is more common than is widely appreciated in patients attending accident and emergency departments.
Assuntos
Assistência ao Convalescente , Traumatismos Craniocerebrais/terapia , Serviço Hospitalar de Emergência , Humanos , Inquéritos e Questionários , Reino UnidoRESUMO
We reviewed 49 patients in whom a diagnosis of Huntington's disease (HD) seemed possible on clinical grounds, but who gave no history of definitely affected relatives. In 32 with the typical clinical features of HD (progressive chorea and dementia, postural instability, abnormal initiation of saccadic eye movements), the diagnosis was confirmed in 7 patients who had had autopsies, affected relatives were found in 5 others, and HD remained probable in a further 13 who were reexamined. In the 17 with a less typical clinical picture, a diagnosis of HD appeared most likely in 2; other causes for chorea such as cerebrovascular disease, neuroacanthocytosis, recrudescence of Sydenham's chorea, and drug-induced tardive dyskinesia could be invoked in the remainder. We conclude that the likelihood of HD in a patient with the typical clinical features of this disorder but no history of affected relatives is at least 75%, which for practical purposes implies a risk to their children hardly less than in familial HD. The most plausible explanations for seemingly sporadic patients with HD are nonpaternity and mild, late-onset disease that is overlooked by other family members.
Assuntos
Doença de Huntington/epidemiologia , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Seguimentos , Aconselhamento Genético , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Incidência , Masculino , Pessoa de Meia-Idade , Mutação , Doenças do Sistema Nervoso/diagnóstico , Paternidade , RiscoRESUMO
The polymerase chain reaction was used to screen DNA samples from 12 unrelated individuals with various familial dementias and ataxias for mutation in part of the prion protein (PrP) gene, an abnormality that occurs in individuals with the spongiform encephalopathies, Gerstmann-Sträussler syndrome (GSS) and Creutzfeldt-Jakob disease. 2 members of a family in whom GSS was not previously suspected had a 0.15 kb insertion of similar size to that found in another kindred with pathologically proven spongiform encephalopathy. GSS may be more common than is currently realised; PrP gene analysis is potentially useful for diagnosis and genetic counselling in familial dementias and ataxias.