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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case with acute disturbance of consciousness associated with calcium hopanthenate (HOPA) administration was reported. He was a 3-year-old boy with autistic developmental delay, had orally taken 1.5 g of HOPA daily for 3 months. Clinical manifestations consisted of fever, vomiting and coma. Laboratory examination revealed severe hypoglycemia and metabolic acidosis, but there were no hepatic enzyme abnormalities. Analysis of urinary organic acid profile showed that very large amounts of medium and long chain dicarboxylic acids and omega-1 hydroxy-fatty acids were excreted. In particular, 2-hydroxysebacic acid, the accumulation of which has only been reported in the urine of patients with Zellweger syndrome and neonatal adrenoleukodystrophy (NALD), was observed. Analysis of urinary acylcarnitines showed that acetylcarnitine was predominant and C6-C10 dicarboxylic acylcarnitines were also excreted. He was treated with and rapidly responded to intravenous glucose and bicarbonate. After withdrawal of the drug he has had no problems and dicarboxylic aciduria disappeared. A CT scan showed symmetric, low density areas in periventricular white matter, especially around the posterior horns of the lateral ventricles. A T2-weighted MRI scan revealed high-intensity signal in the white matter corresponding to areas of low density on CT scan. We conclude that that a large amount of HOPA administration may cause encephalopathy by the inhibition of both mitochondrial and peroxisomal beta-oxidation.
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PMID:[Clinical and biochemical studies in a case of acute encephalopathy associated with calcium hopanthenate administration]. 219 43

The spectrum of metabolic neuromuscular disorders is wide. Most inherited metabolic diseases are related to enzyme defects within lysosomes but recent advances emphasize abnormalities of mitochondria, peroxisomes and intermediate filaments. In this overview, organelle pathology is described in the context of both the clinical manifestations and the biochemical and/or molecular aspects of the disease. Among the many clinical presentations of mitochondrial disorders three emerge as distinctive entities: mitochondrial encephalopathy with lactic acidosis and stroke-like symptoms, mitochondrial encephalopathy with ragged-red fibers, and Kearns-Sayre syndrome. Peroxisomal disorders are associated with numerous biochemical defects, the most frequent of which are Zellweger's syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease. Disorders of cytoskeletal proteins are associated with distinctive pathological accumulation of intermediate filaments but are without confirmed evidence of a biochemical defect. Understanding the role that organelle pathology plays in the pathogenesis of cellular disturbance or demise is essential to the elucidation of the pathogenesis of metabolic disorders.
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PMID:Organelle pathology in metabolic neuromuscular disease: an overview. 240 27

An 8-year-old boy presented with large diffuse myelinoclastic bifrontal and right parietal peripherally enhancing white matter lesions with high intracranial pressure. Intravenous treatment with ACTH and high dose cyclophosphamide (cytoxin) resulted in shrinkage of the lesion, loss of peripheral enhancement and clear clinical improvement. After nine months following the onset of the first episode, an isolated left frontal enhancing lesion appeared along with a new right hemiparesis and speech difficulty. The same therapy again resulted in prompt definitive improvement of the CT scan and reversal of the clinical course. This case was extensively investigated and characterized as the 1912 variety of Schilder's disease, to be distinguished from post-infectious encephalopathy and other forms of white matter disease such as adrenoleukodystrophy. No elevation of CSF IgG, oligoclonal bands, or characteristic abnormality of T-cell subset distribution were identified. However, the pathological picture most closely resembled that of multiple sclerosis. A striking feature of this child's clinical history was the relatively rapid clinical improvement with immunosuppression.
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PMID:Schilder's disease: additional aspects and a therapeutic option. 368 53

X-linked adrenoleukodystrophy is a metabolic disorder with broad clinical variations. The disease may be considered as a differential diagnosis in the case of encephalopathy, polyneuropathy, multiple sclerosis-like syndromes and adrenal insufficiency with unknown etiology. The most common form of adrenoleukodystrophy is lethal and starts with dementia in boys under ten years of age. The genetic defect is located to the Xq28 region and codes for a protein which regulates the transport of beta-oxidation enzymes in the peroxisomes. A defect of this protein seems to cause the accumulation of very long-chain fatty acids. This defect can be measured easily in the serum from patients and female carriers. Therapeutic attempts, for instance with Lorenzo's oil, in order to reduce serum level of very long-chain fatty acids, have not proven to be effective in already neurologically symptomatic patients. At present, the treatment of choice seems to be bone marrow transplantation in presymptomatic boys.
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PMID:[Adrenoleukodystrophy--clinical, biochemical and therapeutic aspects]. 780 91

"Dementia" is the general term used to describe the symptom complex of intellectual deterioration in adult. Interest in accurately diagnosing dementia is a relatively recent phenomenon. This is reflected in both the development of neuroradiologic examinations, including MRI and SPECT as well as PET, and marked increase in both the incidence and prevalence of dementia associated with increase of the elderly population. The clinical evaluation remains the key to the differential diagnosis. Most cases of "typical dementia" can be diagnosed accurately by clinical criteria. However, the definitive diagnosis of "atypical dementia" still requires intensive neuroradiologic studies and histologic examination of brain to identify characteristic structural changes. In this study, we presented both neuroradiologic and neuropathologic information, which is important in diagnosing diseases that present atypical dementia syndrome. These diseases are as follows; AIDS, isolated CNS angiitis, CO intoxication. Wernicke encephalopathy, adrenoleukodystrophy, Nasu disease, CADASIL, CARASIL, glioblastoma, primary CNS lymphoma, antiphospholipid antibody syndrome, reversible posterior leukoencephalopathy syndrome, mitochondrial encephalopathy (MELAS), and subcortical vascular dementias.
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PMID:[Neuroradiologic and pathologic approaches to the diagnosis of dementia syndrome]. 1037 30

X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex. The childhood form of the disease is typically heralded by subtle neurocognitive changes which later progress. Acute presentation of childhood ALD has been reported, but the incidence is not known. We reviewed the records of 485 boys with childhood ALD, determined those with acute presentation, and classified them as adrenal crisis, seizures, or encephalopathy. Of the 485 reviewed cases, 45 (9.3%) presented acutely at an average age of 5.5 years. Twenty of 45 (44%) presented with seizures, focal seizures in 6 boys and generalized in the remainder with 4 having status epilepticus. Twenty out of 45 presented with acute adrenal crisis. Five of 45 presented with acute encephalopathy or coma. The diagnosis of ALD was rarely made in the acute period, but was often suggested by neuroimaging. The accurate, rapid diagnosis of ALD has important implications for treatment as well as for other family members and should be considered in appropriate patients.
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PMID:Acute presentation of childhood adrenoleukodystrophy. 1150 47

Neonatal seizures are critical conditions because they are usually related to significant illnesses that require a specific therapy. Antepartum and peripartum seizures are very rare, and represent signs of prenatal-onset neurologic dysfunction. A review of the literature revealed that the main etiologies include severe brain malformations, multiple anomalies, and metabolic encephalopathy. A high incidence of early fatality and serious neurologic sequelae were noted. To our knowledge, this is the first case report of neonatal adrenoleukodystrophy presenting with seizure at birth. These very-early-onset seizures may require unique diagnostic and therapeutic considerations, in contrast with the later onset of seizures in neonates.
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PMID:Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature. 1820 97

The classification of metabolic disorders according to the etiology is not practical for neuroradiological purposes because the underlying defect does not uniformly transform into morphological characteristics. Therefore typical MR and clinical features of some easily identifiable metabolic disorders are presented. Canavan disease, Pelizaeus-Merzbacher disease, Alexander disease, X-chromosomal adrenoleukodystrophy and adrenomyeloneuropathy, mitochondrial disorders, such as MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) and Leigh syndrome as well as L-2-hydroxyglutaric aciduria are presented.
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PMID:[Metabolic disorders with typical alterations in MRI]. 2092 41