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)

A case of isovaleric acidemia appearing as diabetic ketoacidosis with acute encephalopathy and pancytopenia was reported. A three-year-old male patient, with mild psychomotor retardation, had recurrent bouts of acute encephalopathy and pancytopenia after episodes of upper respiratory infection. At admission, he had vomiting associated with dehydration, acidosis, ketonuria, coma and a pungent, rather unpleasant odor. Laboratory features included hyperglycemia, hyperammonemia, hyperamylasemia, hypocalcemia, neutropenia, thrombocytopenia and subsequent anemia. Urine organic acid profiles showed profuse amount of 3-beta-hydroxyisovaleric acid (295 mg/ml) and isovalerylglycine (616 mg/ml) by gas chromatography-mass spectrometry. Levels of amino acids in the serum and urine were normal. The patient received treatment with rehydration and insulin, with rapid improvement. After the acute illness, blood glucose levels returned to normal. The patient was doing well on a low-protein diet in recent 3 months.
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PMID:Isovaleric acidemia: report of one case. 212 76

A 22-year-old male presented with a brief history of progressive encephalopathy. One week previously, he had developed an upper respiratory infection that resolved spontaneously and was followed by intractable vomiting. He had taken salicylates for several days during the viral syndrome. The diagnosis of Reye's syndrome was confirmed by hepatic histology. Aggressive conservative management was followed by complete metabolic and neurological recovery. There are fewer than 10 reported cases of Reye's syndrome in adults but this disease may be more common than is generally suspected. The diagnosis should be considered in patients presenting with emesis and obtundation, who have recently had a viral illness and exhibit elevated blood ammonia and transaminases with normal cerebrospinal fluid. Confirmation is achieved by liver biopsy. Therapy is directed toward aggressive reduction of increased intracranial pressure.
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PMID:Reye's syndrome in the adult: case report and review of the literature. 685 15

We have encountered several patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated hyponatremia. In order to better understand this phenomenon, Na levels were evaluated in a series of patients with MERS. Na was 131.8+/-4.1 mmol/l (mean+/-SD, range 121-140) in 30 patients with MERS; 138.3+/-2.7 mmol/l (range 134-144) in age-matched 21 patients with upper respiratory infection; 136.6+/-2.5 mmol/l (range 132-140) in nine patients with other type of encephalopathy; and 136.2+/-2.6 mmol/l (range 132-140) in 17 patients with febrile seizures. Twenty-five of the thirty patients with MERS had Na<136 mmol/l. There were significant differences between the Na levels of patients with MERS and those with other groups. It is not possible, from the clinical perspective, to completely separate MERS from hyponatremic encephalopathy or to rule out hyponatremia as a contributing factor of MERS.
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PMID:Encephalopathy with a reversible splenial lesion is associated with hyponatremia. 1849 Jan 23

Acute necrotizing encephalopathy predominately affects young children in Japan, Taiwan, and Korea. It manifests with fever, altered mental status, and seizures 2-5 days after the onset of upper respiratory infection. It is commonly associated with influenzas A, B, and H1N1. The hallmark of the encephalopathy involves multifocal, symmetric brain lesions affecting the bilateral thalami, brainstem tegmentum, cerebral periventricular white matter, cerebellum, and medulla, as visualized by computed tomography and magnetic resonance imaging. Prognoses were uniformly dismal before 1980, with high mortality rates and severe neurologic sequelae in survivors. We describe a previously healthy 4-year-old Caucasian girl who presented with fever, alterations of consciousness, and convulsions. Nasal swab revealed her to be influenza A-positive, and her magnetic resonance imaging was diagnostic of the disease. Prompt recognition of the disease and treatment with hypothermia and anti-inflammatory agents led to a favorable outcome.
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PMID:Favorable outcomes in acute necrotizing encephalopathy in a child treated with hypothermia. 2263 35

Many reports in the field of childhood brain disorders have documented that brain-derived neurotrophic factor (BDNF) affects central nervous system (CNS) functions. In this clinical study, BDNF levels were evaluated in association with pediatric CNS infections. BDNF levels in the serum and cerebrospinal fluid (CSF) of 42 patients admitted during 5-year period, due to CNS infections, were measured by enzyme-linked immunosorbent assays (ELISAs). Control samples were collected from 108 patients with non-CNS infections (urinary tract infection, acute upper respiratory infection, acute gastroenteritis, etc.). Mean values of BDNF levels, at various ages, were determined and compared. BDNF levels were below the sensitivity of the ELISA in most CSF samples from the control group, but were significantly elevated in the patients with bacterial meningitis. The serum BDNF levels were elevated in all subgroups of patients with CNS infections, and the elevation was particularly notable in those with bacterial meningitis. BDNF expression in the CSF was correlated with CSF interleukin (IL)-6 levels as well as with blood platelet counts and neurological prognoses in those with bacterial meningitis. No correlation was found between BDNF levels and serum leukocyte numbers or C-reactive protein (CRP) levels. BDNF levels were found to be elevated in the serum and CSF of pediatric patients with CNS infections, particularly those with bacterial meningitis. Monitoring the changes in serum and CSF levels of BDNF may facilitate the diagnosis of acute meningitis and acute encephalopathy and allow the differential diagnosis of specific CNS infections.
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PMID:Expressions of brain-derived neurotrophic factor (BDNF) in cerebrospinal fluid and plasma of children with meningitis and encephalitis/encephalopathy. 2290 May 12

We report a 2-year-old Japanese boy with acute necrotizing encephalopathy (ANE) triggered by human herpes virus-6, who presented insightful magnetic resonance imaging (MRI) findings. He was admitted due to impaired consciousness and a convulsion, 2 days after the onset of an upper respiratory infection. At admission, cranial MRI showed marked gadolinium enhancement at the bilateral thalami, brainstem and periventricular white matter without abnormal findings in noncontrast MRI sequences. On the following day, noncontrast computed tomography demonstrated homogeneous low-density lesions in the bilateral thalami and severe diffuse brain edema. The patient progressively deteriorated and died on the 18th day of admission. The pathogenesis of ANE remains mostly unknown, but it has been suggested that hypercytokinemia may play a major role. Overproduced cytokines cause vascular endothelial damage and alter the permeability of the vessel wall in the multiple organs, including the brain. The MRI findings in our case demonstrate that blood-brain barrier permeability was altered prior to the appearance of typical neuroradiological findings. This suggests that alteration of blood-brain barrier permeability is the first step in the development of the brain lesions in ANE, and supports the proposed mechanism whereby hypercytokinemia causes necrotic brain lesions. This is the first report demonstrating MRI gadolinium enhancement antecedent to typical neuroradiological findings in ANE.
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PMID:MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy. 2326 19