NEUROLOGICAL MANIFESTATIONS IN METABOLIC DISEASES

作者：Campistol J^*

来源：Arquivos de Neuro-Psiquiatria, 2015, 73: 59-63.

• inborn errors of metabolism
• diseases
• neurological manifestations
• biochemistry
• neuroimaging
• treatment

Neurometabolic disorders constitute an expanding and complex field in which it is difficult clinical suspicion, diagnostic and treatment. This reviewtries to develop a simplified practical orientation with the neurological manifestations of inborn errors of metabolism. It is very important for the neuropediatrician to suspect metabolic diseases depending on some of the most frequent unexplained neurological disturbances and symptoms, such as psychomotor delay, mental retardation, ataxia, refractory epilepsy, dystonia, metabolic crisis, neuroimaging abnormalities or other extraneurological signs. Clinical suspicion and biochemical workup orientation and diagnosis it's also very important specially related to the new emergent therapeutical options, genetic advice and prenatal diagnosis.

• 出版日期2015-9