RESUMO
BACKGROUND: Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children. OBJECTIVE: To report a juvenile case of Alpers disease due to mutations in the polymerase gamma gene (POLG1). DESIGN: Clinical, pathologic, biochemical, and molecular analysis. SETTING: Tertiary care university hospital and academic institutions. PATIENT: A 17-year-old adolescent girl with intractable epilepsy and liver disease. MAIN OUTCOME MEASURES: Clinical course and pathologic, biochemical, and molecular features. RESULTS: Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis of POLG1 showed 2 novel mutations: T851A and R1047W. CONCLUSION: The POLG1 mutations can cause juvenile and childhood Alpers disease.
Assuntos
DNA Polimerase Dirigida por DNA/genética , Esclerose Cerebral Difusa de Schilder/genética , Adolescente , Anticonvulsivantes/uso terapêutico , Encéfalo/patologia , Análise Mutacional de DNA , DNA Polimerase gama , Esclerose Cerebral Difusa de Schilder/patologia , Esclerose Cerebral Difusa de Schilder/terapia , Resistência a Medicamentos , Eletroencefalografia , Transporte de Elétrons/genética , Transporte de Elétrons/fisiologia , Éxons/genética , Família , Feminino , Heterozigoto , Humanos , Hepatopatias/genética , Hepatopatias/patologia , Imageamento por Ressonância Magnética , Mutação , Convulsões/etiologia , Convulsões/patologiaRESUMO
Patients with Werner's syndrome have the appearance of premature ageing. Neurological complications are usually regarded as uncommon. The neurological manifestations in three patients with cardinal features of Werner's syndrome, including short stature, premature greying and baldness, thin arms and legs, cataracts and scleroderma-like skin changes, are presented. The neurological features included transient ischaemic attacks secondary to atherosclerosis in the common carotid arteries (one patient), sensory peripheral neuropathy (one patient) and peripheral neuropathy with a possible myelopathy (one patient). In one of these patients the diagnosis of Werner's syndrome was not recognised prior to neurological referral. Although neurological disease in patients with Werner's syndrome is uncommon, it may be under-recognised. Some of the neurological complications are secondary to premature cerebrovascular disease, but the pathogenesis of peripheral neuropathy and myelopathy in patients with Werner's syndrome is uncertain.
Assuntos
Ataque Isquêmico Transitório/etiologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças da Medula Espinal/etiologia , Síndrome de Werner/complicações , Síndrome de Werner/patologia , Adulto , Arteriosclerose/complicações , Arteriosclerose/etiologia , Doenças das Artérias Carótidas/complicações , Doenças das Artérias Carótidas/etiologia , Feminino , Humanos , Ataque Isquêmico Transitório/patologia , Masculino , Doenças da Medula Espinal/patologiaRESUMO
AIMS: The aim of this project was to employ interdepartmental and cross district health board collaboration to reach a regional consensus on the management of patients who may benefit from carotid endarterectomy. METHODS: All regional stroke physicians, neurologists, and vascular surgeons met to review relevant literature and local audits and to discuss best management strategies suited to the region. RESULTS: A consensus statement was agreed upon and is presented here along with a summary of the supporting scientific evidence. DISCUSSION: Regional interdisciplinary collaboration proved an effective way to reach a carotid endarterectomy management consensus across a wider geographical area that is served by a single vascular surgery department. This approach could serve as a model for other regional initiatives.