Metabolic Encephalopathy: Behind the Name.

Metabolic encephalopathy may be the most common diagnosis in consultative acute neurology. The origin of this term is not generally known but can be traced back. The term replaced more commonly used designations such as organic or functional. The term metabolic encephalopathy was originally linked to organ dysfunction but subsequently became more imprecise. When it expanded to include a large number of diseases, it evolved to "metabolic neuronal dysfunction" and soon could not be distinguished from "quiet delirium" and other designations. This vignette summarizes why the terminology has confused more than clarified but also why it will likely stay in the neurologist's vernacular.

Coding issues in critical care patients with an emphasis on encephalopathy.

Accurate coding is an important function of neurologic practice. This section of CONTINUUM, contributed by members of the AAN Medical Economics and Management Committee, includes helpful coding information and examples related to the issue topic. This section may include diagnosis coding, evaluation and management coding, procedure coding, or a combination, depending on which is most useful for the subject area of the issue.

Epilepsy in children--when should we think neurometabolic disease?

Seizures are often the first manifestation of central nervous system dysfunction and are common in many inborn errors of metabolism, especially in neonates, infants, and children. A high index of suspicion is required to diagnose inborn errors of metabolism as the cause of seizures. It is also important to recognize these metabolic disorders early, as specific disease-modifying treatments are available for some with favorable long-term outcomes. This review discusses the classification of metabolic disorders as a cause of seizures based on pathogenesis and age and proposes a tiered approach for cost-effective diagnosis of metabolic disorders.

Metabolic encephalopathies.

Metabolic encephalopathies, usually multifactorial in origin, may be important complications of many diseases of patients treated in a critical care unit. In many cases these complications arise from more than one cause. Neurological signs of metabolic encephalopathies, ancillary tests and differential diagnosis, etiology and pathophysiology are discussed. In this context major single causes for metabolic encephalopathies are referred to. Metabolic encephalopathies as diseases per se (e. g. Wernicke's encephalopathy) and encephalopathies as consequences of deteriorating known diseases (e. g. renal or hepatic diseases) and encephalopathies as complications in patients treated with other diseases in the ICU have to be differentiated. Encephalopathies are known to be the most common complication of a large group of diseases treated in the ICU; on the other hand, manifestation of metabolic encephalopathy can be taken as a warning of deterioration or beginning organ dysfunction. So it would be misleading so far to reduce the clinical concept of metabolic encephalopathies in ICH to septic encephalopathy only.

Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.

Analysis of recent literature on Niemann-Pick disease type C (NPC) reveals a broad clinical spectrum with diverse neurological manifestations. Diagnosis and assessment are discussed. We present a case with symptomatology that is in concordance with a specific phenotype. The major clinical features are highlighted in a review of recently published cases. NPC could be underdiagnosed and we argue that in the work-up of progressive neurological disorders NPC should be seriously considered, at all ages, whenever there is any combination of visceromegaly, psychomotor deterioration, ataxia, vertical gaze disturbances or developmental delay. The Filipine staining of fibroblasts is a helpful asset in the diagnostic process, to be concluded with the detection of defective intracellular cholesterol esterification.

Hormonas Tiroideas y Desarrollo Cerebral

Contrario a ideas ampliamente difundidas, las hormonas tiroideas estan disponibles desde estadios iniciales del desarrollo, según estudios en la rata, modelo animal mamífero; pero es muy probable que estos hallazgos sean extrapolables al hombre. En el embrión las hormonas tiroideas son de origen materno. Una vez la tiroides fetal inicia su función y hasta el nacimiento son tanto de origen fetal como materno. Posteriormente, el desarrollo cerebral es totlamente dependiente de su propia producción hormonal. Una hipotiroxinemia materna podría afectar la fase temprana de la neurogénesis fetal. Los efectos adversos son contrarrestados, total o parcialmente, al iniciarse una adecuada función tiroidea fetal; pero si esta es anormal, como ocurre en fetos hipotiroideos (agenesia de tiroides, bloqueo en la síntesis de hormonas tiroideas) o por deficiencia de yodo, dichas alteraciones no son corregidas y sobrevendrá un daño posterior más severo e irreversible, resultado de hipotiroidismo fetal continuo. El cerebro fetal es totalmente dependiente de tiroxina materno, para las necesidades intracelulares de hormona tiroidea, por lo que dicho aporte es esencial para la protección cerebral del feto hipotirodeo. Así a menos que la hipotiroxinemia materna sea corregida, el mantenimiento de un eutiroidismo materno con triyodotironina, no es de beneficio para el cerebro fetal. El hipotiroidismo congénito, la hipotiroxinemia materna y el bocio endémico, están asociados a retardo mental, y su frecuencia en Colombia es mayor de la eceptada, por lo que deben establecerse estudios de tamizaje obligatorio de la función tiroidea en neonatos y gestantes para la detección y tratamiento precoz de estas entidades clínicas, y la revisión de los índices de ingesta de yodo, evaluación de los programas de yodación de la sal y de otros factores bociogénicos, con su respectiva corrección. Estas conductas mejorarán el porvenir intelectual, individual y global de nuestra población

[Neurometabolic diseases. References for classification, clinical aspects and diagnostic procedures]. / Neurometabolische Erkrankungen. Hinweise zu Klassifikation, Klinik und diagnostischem Vorgehen.

Diseases caused by neuro-metabolic or neuro-degenerative disorders often lead to diagnostic difficulties, because of their rarity and numerous quantity. The present report tries to combine older classifications according to anatomic aspects with the newer ones underlying biochemical-functional points of view. Then the most important cardinal symptoms in a synoptic demonstration are put in relation to the most considerable neuro-metabolic disorders. Tables concerning age-related diseases and informations on diagnostic methods of importance are presented.