RESUMO
Becker-type muscular dystrophy (BMD) is reported in two brothers. In one of the patients, the molecular demonstration of an in-frame deletion of exons 45, 46 and 47 has confirmed the clinical and pathological diagnosis of BMD. The autopsy of the other patient revealed mild neuronal losses in the anterior horns at C8, lumbar and sacral levels of the spinal cord. Mild neuronal losses in the spinal cord may explain the mixed type of neurogenic-myogenic features in the skeletal muscles of adult BMD patients.
Assuntos
Distrofias Musculares/genética , Adulto , Deleção Cromossômica , Éxons/genética , Ligação Genética/genética , Humanos , Masculino , Microscopia Eletrônica , Músculos/patologia , Distrofias Musculares/patologia , Exame Neurológico , Linhagem , Aberrações dos Cromossomos Sexuais/genética , Medula Espinal/patologia , Cromossomo XRESUMO
The case of a man with a large arteriovenous malformation, fed by meningeal arteries and draining into the Galenic system is reported. Mental deterioration and gait ataxia were attributed to an associated noncommunicating hydrocephalus. The symptoms recurred two months after successful ventriculoatrial shunting.
Assuntos
Hidrocefalia/etiologia , Malformações Arteriovenosas Intracranianas/complicações , Artérias Meníngeas/anormalidades , Ataxia/etiologia , Encéfalo/patologia , Derivações do Líquido Cefalorraquidiano , Dura-Máter/irrigação sanguínea , Marcha , Humanos , Hidrocefalia/cirurgia , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/patologia , Masculino , Pessoa de Meia-Idade , RadiografiaRESUMO
The value of visual, brain stem auditory and somatosensory potentials in detecting clinical and subclinical lesions as compared to the routine neurological, ophthalmological and vestibular examinations was investigated in 100 M.S. patients. It would appear that the VEP and SEP are far superior to the routine techniques in demonstrating lesions. On the other hand, the BAEP is inferior to the clinical and vestibular test as an indicator of brain stem lesions. All clinically manifest posterior column lesions are associated with abnormal SEP. However a substantial proportion of clinically evident lesions in the visual pathways or the midbrain and pons are not detectable by the VEP and BAEP.
