Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The files of 25 patients with propionic acidemia (PA), followed by the Inborn Errors of Metabolism Service (IEMS) at King Faisal Specialist Hospital and Research Centre (KFSH & RC) from 1990 to 1993, were studied retrospectively. In 14 patients PA presented acutely with acidosis, hyperammonemia and thrombocytopenia, while in 11 patients the presentation of the disease was unusual. In the latter group, two neonates with PA initially appeared as a primarily hyperammonemic metabolic disease. In two other neonates the vomiting was so severe that they were diagnosed as intestinal obstruction in referral hospitals. The presentation in three infants was primarily as an immune disorder. In four infants, PA appeared as an acute or chronic encephalopathy, i.e. as a silent organic acidemia, with few other findings of the disease. The clinical picture of PA includes facial and nipple dysmorphia, severe hypotonia and vomiting. Severe thrombocytopenia is the hallmark of the metabolic crisis. In one patient it was noticed late and caused intracranial hemorrhage, while in three others intracranial bleeding caused death. The prognosis in PA remained grave despite rigorous treatment. Only seven of the 25 PA patients remained to have a normal life-style, while eight patients expired. The diagnosis is readily achieved by urine gas chromatography/mass spectrometry (GC/MS), by tandem mass spectrometry (MS/MS), or by enzyme analysis of fibroblasts. While there may be both examiner- and patient-related reasons for the variations in the presentation of PA, one other reason may be the heterogeneity of the molecular defect in propionyl-CoA carboxylase.
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PMID:Unusual presentations of propionic acidemia. 772 81

A case of a 12-year-old girl with a multiple auto-immune disorder is reported. She showed Hashimoto thyroiditis which subsequently developed to hashitoxicosis and distal renal tubular acidosis at 5 years of age, pernicious anaemia at the age of 9 and severe encephalopathy at the age of 12. Laboratory studies revealed very high titres of anti-microsomal and anti-thyroglobulin antibodies and positive gastric parietal cell antibody. As to the encephalopathy, positive oligoclonal IgG bands and high values of IgG index and IgG synthesis ratio in CSF were observed with aggravation of her neurological symptoms. High-dose steroid therapy was effective toward the encephalopathy. Paediatricians should pay careful attention to patients with Hashimoto thyroiditis for association with other autoimmune disorders.
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PMID:Hashimoto thyroiditis, distal renal tubular acidosis, pernicious anaemia and encephalopathy: a rare combination of auto-immune disorders in a 12-year-old girl. 815 29

Paraneoplastic syndromes are disorders associated with cancer but without a direct effect of the tumor mass or its metastases on the nervous system. Small cell carcinoma of lung associated with paraneoplastic sensory neuronopathy and/or paraneoplastic encephalomyelitis with the presence of anti-Hu antibodies has been termed "anti-Hu syndrome." Anti-Hu associated PSN-PEM is an immune disorder in which both cell-mediated and humoral mechanisms are involved. Patients are considered affected by Anti-Hu associated PSN-PEM when they develop clinical signs and symptoms of CNS dysfunction and/or sensory neuropathy not caused by metastases or other disorders, and serum or cerebrospinal fluid is positive for Hu abs. SCLC is found in more than 90% of patients with cancer and positive Hu abs. Individual patients with Hu abs associated to SCLC may suffer PSN-PEM, limbic encephalitis, brainstem encephalopathy, opsoclonus-myoclonus, paraneoplastic cerebellar degeneration or myelopathy. Hu abs have a specificity of 99% and sensitivity of 82% in detecting paraneoplastic neurological syndromes. There are two types of treatment: the first is to treat the cancer, the second is to suppress the immune reaction with the use of corticosteroids, cyclophosphamide, azathioprine, plasma exchange, intravenous immunoglobulin and immunoadsorption; however, treatment of paraneoplastic syndromes is generally unsatisfactory.
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PMID:Paraneoplastic syndromes associated with anti-Hu antibodies. 1134 32

A questionnaire was distributed at the American Association of Chronic Fatigue Syndrome's biannual convention in Washington in January 2001 as well as through various Internet Web sites and listserves during early February and March of 2001. The sample consisted of 432 respondents. Most respondents (86%) indicated they wanted a name change, although more patients than scientists were in favor of this change. It was also apparent that the patients and physicians were clearly split between adopting a name such as myalgic encephalopathy versus one such as neuro-endocrine immune disorder. Also, among those respondents who selected either of these two choices for a new name, less than 30% of them supported the other name. Although the majority of respondents feel the name should be changed at this time, this survey suggests there are different stakeholders involved in the name-change process, each with strong and sometimes disparate feelings about changing the name.
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PMID:Assessing attitudes toward new names for chronic fatigue syndrome. 1181

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls with the disorder are reported; they were aged 4 years, 5 years and 10 months. The 10-month-old infant who is one of the youngest patients reported with anti-NMDAR encephalitis worldwide, had MRI features suggestive of herpes simplex encephalitis (known to trigger anti-NMDAR encephalitis), but CSF PCR for herpes simplex was negative. All the patients presented with seizures, behavioural change, regression of speech, dystonia and choreo-athetosis. Anti-NMDAR antibodies were detected in all patients' sera and cerebrospinal fluid (CSF). Intravenous immunoglobulin, corticosteroids and rituximab were administered at different intervals. Cases 1 and 2 made a full recovery, but case 3 has mild motor and speech delay. Patients who present with encephalopathy, seizures and movement disorders should be tested for anti-NMDAR antibodies in serum and CSF in addition to being screened for herpes simplex encephalitis.
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PMID:Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports. 2732 12

Historically endocrinologists and psychiatrists are aware that disturbances in thyroid disease in beginning or even in clinically intensified states of thyrotoxicosis or hypothyroidism exhibit pathological mental manifestations, masking or potentiating the underlying disease. Immune system disorders cause thyroid organ-specific autoimmune process. This autoimmune thyroid disease binds with a number of disorders in both endocrine or non-endocrine organs. This appears in vascular, neurological, skin, connective tissue, gastrointestinal tract and mental pathology. These disorders are part of autoimmune polyglandular syndromes (APS) type I -III, especially the APS type III. Originally it was assumed that these mental disorders are caused by direct exposure to excess or deficiency of thyroid hormones. Recently, however, it appears that these psycho-immune-endocrine disorders have common etiologic mechanisms of formation and on cellular and molecular level they involve similar, if not in some cases, common mechanisms.Key words: antithyroid peroxidase antibody - autoimmune polyglandular syndrome type I., II., III. - autoimmune thyroid disease - bipolar disorder - depression - Hashimotos encephalopathy - postpartum psychosis - psycho-immuno-endocrinology - schizophrenia.
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PMID:[Psycho-immuno-endocrinology of the thyroid gland]. 2773 2