Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ornithine transcarbamoylase (OTC) deficiency is the most common hereditary urea cycle disorder. It is an X-linked recessive disorder that usually presents with encephalopathy and hyperammonaemia. We report a 14-month-old female carrier of OTC deficiency, who presented with a history of intermittent vomiting for 5 weeks and irritability and lethargy for 1 week. She was found to be in acute liver failure, with elevated transaminases, coagulopathy and a consistently low urea. Identifying an OTC mutation and ruling out other possible causes of acute hepatic failure confirmed the diagnosis. She was placed on low-protein diet supplemented with essential amino acids, and her liver enzymes, hyperammonaemia and coagulopathy corrected. Three other female patients have been reported with OTC deficiency presenting with severe cryptogenic hepatitis; our patient is unique in that the presentation of her disease was dominated by acute liver failure on a back ground of normal growth and development, no liver enlargement, and mild hyperammonaemia. OTC deficiency should be considered in the differential diagnosis of infants presenting with acute hepatocellular dysfunction, especially in females.
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PMID:Ornithine transcarbamoylase deficiency presenting with acute liver failure. 1680 8

Propionic acidemia is an autosomal recessive disorder as a result of a deficient activity of propionyl-CoA carboxylase. Propionyl CoA is metabolized by propionyl-CoA carboxylase to methylmalonyl CoA. Propionic acidemia is a major cause of ketotic hyperglycinemia. This disorder is characterized by episodic vomiting, dehydratation, feeding intolerante, lethargy, hypotonia, metabolic acidosis, ketosis and hyperammonemia. The patient presented herein was a full-term female newborn with encephalopathy in the first days of life. She presented hypoglycemia, metabolic acidosis with increased anion gap, ketosis, hyperammonemia, anemia, leukopenia and thrombocytopenia. The brain ultrasonography was normal. The tandem mass expectrometry done by Pediatrix was abnormal, with the acylcarnitine results consistent with an organic acidemia. The parents are consanguineus and have a history of abortus, miscarriage and neonatal death, characteristics suggestive of the presence of genetic defects.
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PMID:[Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry]. 1864 57

Central nervous system symptoms occur in a substantial portion of patients with systemic lupus erythematosus. However, coma is a rare presentation and is usually secondary to complications such as subarachnoid hemorrhage, seizure, or ischemia. Here, we present a 49-year-old woman with lupus erythematosus and a history of recurrent aseptic meningitis and mild subarachnoid hemorrhage who presented with altered mental status and lethargy that progressed rapidly over hours to the herniation syndrome of coma, extensor posturing, and unilateral pupillary dilation. Spinal fluid showed massive protein elevation (>1600), and head computed tomography revealed global cerebral edema. The clinical and radiologic findings rapidly reversed with intravenous corticosteroids and mannitol within 24 hours, and her mental status improved to baseline. Her course was complicated by 2 episodes of recurrent encephalopathy when corticosteroids were tapered; these resolved after resuming high dosing. Because of ongoing pancytopenia, chemotherapy immunosuppression was delayed, and instead she received intravenous immunoglobulin with improvement in the pancytopenia. She remained cognitively intact during subsequent corticosteroid tapering. Rapid development of coma in lupus patients may be due to a primary process of the disease impacting blood brain barrier integrity. Although rare, this potentially fatal complication may be reversible with acute corticosteroid administration.
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PMID:Transient life-threatening cerebral edema in a patient with systemic lupus erythematosus. 1945 59

A 13-year-old Standardbred gelding was referred for evaluation of continuous abdominal pain. Rectal examination revealed a dislocated large colon (Dislocatio coli ad dextram). The horse showed muscle fasciculations and appeared lethargic. It was sent to surgery because of persistent colic. In transit the gelding showed an unstable walk and immediately prior to surgery a wide-based stance in the hindlimbs. Laparotomy revealed a retroflexion of the large colon and a secundary mesenterial volvulus. After surgery the horse remained recumbent. Due to the comatose state and poor prognosis the gelding was euthanized after 15 hours of recumbency. Necropsy indicated hyperaemic meninges, edema of gliacells and submeningeal tissue with vacuolization and loss of several cerebellar Purkinjecells as well as multiple conglomerates of Alzheimer type II astrocyte groups within the grey matter. Further findings included marked hepatolipidosis, multiple gastric ulcers, small intestinal hyperaemia with mild mononuclear inflammation, tapeworm-infestation of the caecum and moderate chronic enteritis with eosinophilic component in the large intestine. To the best of our knowledge, this was the first case of a horse with colic and concurrent encephalopathy without primary liver disease described in a German-speaking country.
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PMID:[Encephalopathy and Alzheimer type II astrocytes in a post laparotomy recumbent horse]. 1953 45

A 14-year-old female had repeated vomiting, headache, abdominal pain, visual field deficit and lethargy at the onset of hypertensive encephalopathy. Cerebrospinal fluid (CSF) test revealed a high level of IgG and protein. MRI demonstrated no supratentorial cerebral lesions but hyperintense lesions were observed from the lower pons to the Th8 level of spinal cord and cerebellar cortex on T2 weighted and FLAIR images without contrast enhancement. The two antihypertensive drugs stabilized to control her blood pressure and improved her clinical symptoms. Reexamination of MRI and cerebrospinal fluid test also revealed clear improvement of the above abnormalities. The abnormal findings on abdominal CT and renography led us to suspect renal infarction. Abdominal angiography demonstrated multifocal stenoses of renal interlobar arteries, which were supposed to supply the renal infarcted regions. These suggested that the renal infarctions due to fibromuscular dysplasia caused systemic hypertension. There have been only two reports that demonstrated spinal cord lesions in reversible posterior leukoencephalopathy syndrome (RPLES). We report extensive spinal lesions on MRI and a high level of IgG in CSF at the subacute phase in a young female with RPLES associated with hypertensive (brainstem) encephalopathy.
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PMID:A case of hypertensive encephalopathy with extensive spinal lesions on MRI. 1973 90

Early myoclonic encephalopathy is an epileptic syndrome with different etiologies. Nonketotic hyperglycinemia is one cause. We describe two cases of early myoclonic encephalopathy, secondary to nonketotic hyperglycinemia, with fatal evolution in the neonatal period. These two cases may better clarify clinical findings that can be associated with impairment of glycine metabolism. Distinguishing features include agenesis of the corpus callosum in patient 1, and weight loss exceeding 10%, associated with metabolic acidosis, in patient 2. The burst-suppression electroencephalography pattern is relatively common in neonatal encephalopathies, and is frequently associated with seizures. Nonketotic hyperglycinemia is an inborn error of metabolism caused by mutations in genes encoding protein in the mitochondrial glycine cleavage system. The neonatal form is a severe, frequently lethal neurologic disease. When associated with electro-clinical features, progressive lethargy and hypotonia occur in the first days of life, progressing to apnea and often death. Prospective treatment with oral sodium benzoate, the N-methyl-d-aspartate receptor antagonist ketamine, and dextromethorphan can favorably modify the early neonatal course of severe nonketotic hyperglycinemia, but does not prevent poor long-term outcomes.
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PMID:Early myoclonic encephalopathy and nonketotic hyperglycinemia. 1981 41

We present the case of an 87-year-old woman with history of hypertension, hypercholesterolemia, ischemic heart diseases, urinary tract infections, and cerebrovascular disease who experienced a transient clinical picture characterized by confusion, lethargy, and acute renal dysfunction in the course of urinary tract infection with Escherichia coli bacteremia. Escherichia coli bloodstream infection was associated with brain computed tomography (CT) and magnetic resonance imaging (MRI) patterns in which the lesion distribution was consistent with posterior reversible encephalopathy syndrome (PRES). Diagnosis of PRES was confirmed by demonstration of vasogenic edema on apparent diffusion coefficient (ADC) maps and near-complete resolution of clinical manifestations at discharge.
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PMID:Posterior reversible encephalopathy syndrome in an 87-year-old woman with Escherichia coli bloodstream infection. 1988 4

We present a previously healthy 6-month-old boy who was admitted to our hospital with lethargy, hypotonia and focal clonic seizures 6 days following diptheria, tetanus toxoid and whole-cell pertussis vaccination. A diagnosis of acute necrotising encephalopathy was made with the aid of MRI, including diffusion-weighted imaging and proton MR spectroscopy.
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PMID:Acute necrotizing encephalopathy secondary to diphtheria, tetanus toxoid and whole-cell pertussis vaccination: diffusion-weighted imaging and proton MR spectroscopy findings. 2011 24

A 26-month-old child presented with an unusual combination of growth retardation, renal proximal tubulopathy, hypoparathyroidism, and episodic encephalopathy with fever and lethargy. Muscle biopsy revealed defects of mitochondrial respiratory chain enzyme complexes I, III, and IV, but no ragged-red fibers or cytochrome c oxidase deficient fibers. Analysis of muscle mitochondrial DNA (mtDNA) showed a heteroplasmic 7663 base pair (bp) single deletion with a perfect 10 bp direct sequence repeat at the boundaries. At age 3 years and 9 months, the child developed sepsis and acute deterioration of her encephalopathy leading to death. This case expands the phenotypic diversity of mitochondrial disorders in pediatric patients and reinforces the importance of biochemical analyses of muscle biopsies in patients suspected of having a mitochondrial disorder.
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PMID:A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy. 2022 71

Abusive head trauma (AHT) is the leading cause of death from traumatic brain injury in under 2 year olds. AHT presents with acute encephalopathy, subdural hemorrhages and retinal hemorrhages occurring in the context of an inappropriate or inconsistent history. We retrospectively analyzed, over a 10 year period, admissions and transfers to our hospital with suspected AHT to assess patterns of presentation, presenting symptoms, investigations, subsequent confirmation, social work input and both neurological and social outcomes. We analyzed all suspected AHT infants and children looking for the time of presentation, presenting symptoms, caregivers concerns prior to presentation, a family profile including stressors, investigations (in particular neuroradiology and ophthalmology assessments), treatment in hospital, length of stay in hospital, social work involvement, subsequent discharge, neurological outcome and subsequent social work follow up. Data was collected from the hospital HIPE system, RIS (radiology reports system) and records from the social work department from a period October 1998 to January 2009 inclusive. Of 22 patients with confirmed AHT, ages seizures and irritability followed by vomiting, poor feeding, a bulging fontanelle and lethargy. The father was the sole minder in 5 cases. There was a delayed history in 4 cases. One had multiple visits to his GP. All cases had subdural hemorrhages proven by either CT or MRI scans and retinal hemorrhages diagnosed by ophthalmology. One infant presented with a torn frenulum. Four had suspicious bruising. All had normal coagulation profiles, skeletal surveys and extensive metabolic tests. Hospital stays ranged from 1 to 124 days (the median was 28 days and mean 33 days). Ten (45%) infants required ventilatory support. Sixteen infants had social work involvement within 4 days of admission (7 of these were interviewed immediately). Outcomes after case conferences were that 6 returned home with parents, 9 were placed in foster care. Four parents (18%) admitted to shakng their infants. There was 1 death. Thirteen (60%) were normal on follow up. Two had ADHD. Two had language delay. Two had motor delay. One criminal prosecution has ensued as yet Children with suspected AHT should undergo appropriate investigations which should include brain imaging, ophthalmic examination, skeletal survey and blood investigations. Early social work assessment is a priority as part of the multidisciplinary approach. A prospective national study of AHT is required.
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PMID:Medical, social and societal issues in infants with abusive head trauma. 2048 11


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