Encephalopathy In Association Research Articles

Alcoholism and Socioeconomic Status among Patients with Hepatic Encephalopathy in Association with Increased Mortality.

Hepatic encephalopathy (HE) is a complex neuropsychiatric disorder indicated by a deterioration in the functioning of hepatocytes. Impaired brain function is observed in advanced alcoholic liver disease particularly manifesting as HE. The pathophysiology of alcohol-related HE remains unclear. Accordingly, this study aimed to assess alcoholism and socioeconomic status of patients with liver disease compared with stages of HE. This cross-sectional study was conducted on 62 alcoholic patients who have been consuming alcohol for more than 14 years. Patients were recruited based on the assessment of clinical symptoms and diagnosed according to the MELD and Child-Pugh scoring systems. Descriptive statistics including demographic details and clinical features of patients were classified based on alcoholism and socioeconomic status. Patients belonging to the lower- and middle-income classes were more in number with a mean age of 46.66±10.21 and 47.14±6.36 years, respectively compared to upper-middle- and upper-income classes. The amount of alcohol intake was 116.59±45.60 in the middle class and 110.0±62.45 in the upper class. Increased progression of HE leads to a rise in the mortality rate due to higher consumption of alcohol. HE is a severe complication in alcohol-related liver cirrhosis that contributes to impaired cognitive function in patients.

Histopathological examination of characteristic brain MRI findings in acute hyperammonemic encephalopathy: A case report and review of the literature.

Acute hyperammonemic encephalopathy is associated with distinct brain MRI findings, namely, hyperintensity in T2-weighted sequences as well as restricted diffusion in diffusion-weighted imaging with accentuation in the insular cortex and cingulate gyrus. The pathophysiology and the histopathological correlates of these characteristic MRI findings are largely unknown. We present a 57-year-old male with a history of chronic alcohol abuse, liver cirrhosis and portal hypertension, and a clinical syndrome (variceal bleeding, depression of consciousness, seizures), elevated plasma ammonia levels, and characteristic brain MRI abnormalities suggestive of acute hyperammonemic encephalopathy. A postmortem histopathological examination revealed extensive hypoxic ischemic encephalopathy without evidence for metabolic encephalopathy. No episodes of prolonged cerebral hypoxemia were documented throughout the course of the disease. We conducted a review of the literature, which exhibited no reports of hyperammonemic encephalopathy in association with characteristic brain MRI findings and a consecutive histopathological examination. This is the first report of a patient with acute hyperammonemic encephalopathy together with characteristic brain MRI findings and a histopathological correlation. Although characteristic MRI findings of acute hyperammonemic encephalopathy were present, a histopathological examination revealed only hypoxic pathology without signs of metabolic encephalopathy.

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without concomitant betaine supplementation. We systematically evaluated reports from 11 published and 4 unpublished patients with CBS deficiency and from additional four cases of encephalopathy in association with elevated methionine. We conclude that, while betaine supplementation does greatly exacerbate methionine accumulation, the primary agent causing brain edema is methionine rather than betaine. Clinical signs of increased intracranial pressure have not been seen in patients with plasma methionine levels below 559 μmol/L but occurred in one patient whose levels did not knowingly exceed 972 μmol/L at the time of manifestation. While levels below 500 μmol/L can be deemed safe it appears that brain edema can develop with plasma methionine levels close to 1000 μmol/L. Patients with CBS deficiency on betaine supplementation need to be regularly monitored for concordance with their dietary plan and for plasma methionine concentrations. Recurrent methionine levels above 500 μmol/L should alert clinicians to check for clinical signs and symptoms of brain edema and review dietary methionine intake. Levels approaching 1000 μmol/L do increase the risk of complications and levels exceeding 1000 μmol/L, despite best dietetic efforts, should be acutely addressed by reducing the prescribed betaine dose.

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

BackgroundMutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous function of this gene has been proposed to cause dysregulation of neuronal excitability and cerebral disorders.Case presentationWe hereby report on a young child followed-up for three years who presents with a spectrum of clinical manifestations such as congenital microcephaly, dysmorphic features, severe intellectual disability, and drug-resistant epileptic encephalopathy in association with a synonymous variant in PRRT2 gene (c.501C > T; p.Thr167Ile) of unknown clinical significance variant (VUS) revealed by diagnostic exome sequencing.ConclusionSeveral hypotheses have been advanced on the specific role that PRRT2 gene mutations play to cause the clinical features of affected patients. To our knowledge, the severe phenotype seen in this case has never been reported in association with any clinically actionable variant, as the missense substitution detected in PRRT2 gene. Intriguingly, the same mutation was reported in the healthy father: the action of modifying factors in the affected child may be hypothesized. The report of similar observations could extend the spectrum of clinical manifestations linked to this mutation.

P 107 Antibody-negative autoimmune encephalitis?

We report about a 66-year-old woman which has been hospitalized with suspected antibody-negative autoimmune encephalitis. The patient experienced relapsing episodes with disorientation, amnestic aphasia, short-term memory dysfunction, hallucinations, apraxia, ataxia, seizures and severe delirium during the years 2012–2013. In medical history the patient has had a breast cancer right sided (first diagnosis 2010) with breast-conserving therapy, radiation and hormone therapy. MRI and cerebrospinal fluid (including antibodies for autoimmunencephalitis) did not show relevant abnormalities. The symptoms completely remitted after cortison therapy. After several episodes, azathioprin therapy was started resulting in clinical stability without relapses. In July 2016 azathioprin was discontinued. In October 2016 the patient developed similar symptoms and hospitalized. As in previous brain scans, MRI was normal without signs of encephalitis. Electroencephalogram showed a severe slowing most pronounced in frontal regions without epileptiform patterns. In cerebrospinal fluid cell count was normal, total protein was elevated (∼1300 mg/l). There was no evidence of bacterial or viral infection. F-18-FDG-PET showed a reduced tracer uptake frontal, parietal and temporal on both sides. A whole body PET-CT, skeletal scintigraphy and mammography did not reveal any malignant tumors. During the following days the patient experienced a rapid worsening in orientation, developed anarthria and was unable to eat independently. Routine blood investigations were without any abnormalities. Autoantibodies to surface antigens and paraneoplastic antibodies as well as vasculitis associated parameters were negative. However, we found highly elevated antibodies against thyreoperoxidase (2726 U/ml, normal < 60). We started steroid pulse therapy and the patient improved rapidly. She regained orientation and improved in ability to communicate. She could move and eat independently. Complete remission was achieved within one week. The patient described complete amnesia regarding this episode. We restarted immunosuppressive therapy with azathioprin. At discharge the patient is able to carry out usual activities. In conclusion we diagnosed a SREAT (steroid responsive encephalopathy in association with autoimmunthyreoditis) with relapsing episodes of amnestic aphasia, disorientation, memory-dysfunctions, delirium, apraxia, and ataxia with highly elevated TPO-antibodies and complete remission after cortison therapy. MRI findings: Unspecific T2/FLAIR Hyperintensities bifrontal. Electroencephalogram: severe slowing most pronounced in frontal regions without epileptiform patterns.

Citrulinemia de presentación atípica: hipo persistente. A propósito de un caso

We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult

A 70-year-old woman presented to the hospital's general physicians with a 3-week exacerbation of pre-existing migrainous headache, speech and behavioural change. There was a 20-year history of slowly progressive bilateral...

Évaluation du pronostic de l’encéphalopathie précoce du nouveau-né à terme avant l’avènement de l’hypothermie

Perinatal asphyxia complicated by hypoxic ischemic brain injury remains a source of neurological lesions. A major aim of neonatologists is to evaluate the severity of neonatal encephalopathy (NE) and to evaluate prognosis. The purpose of this study was to determine the contribution of brain MRI compared to electroencephalogram (EEG) and clinical data in assessing patients' prognosis. Thirty newborns from the pediatric resuscitation unit at Rouen university hospital were enrolled in a retrospective study between January 2006 and December 2008, prior to introduction of hypothermia treatment. All 30 newborns had at least two anamnestic criteria of perinatal asphyxia, one brain MRI in the first 5 days of life and another after 7 days of life as well as an early EEG in the first 2 days of life. Then, the infants were seen in consultation to assess neurodevelopment. This study showed a relation between NE stage and prognosis. During stage 1, prognosis was good, whereas stage 3 was associated with poor neurodevelopment outcome. Normal clinical examination before the 8th day of life was a good prognostic factor in this study. There was a relationship between severity of EEG after the 5th day of life and poor outcome. During stage 2, EEG patterns varied in severity, and brain MRI provided a better prognosis. Lesions of the basal ganglia and a decreased or absent signal of the posterior limb of the internal capsule were poor prognostic factors during brain MRI. These lesions were underestimated during standard MRI in the first days of life but were visible with diffusion sequences. Cognitive impairment affected 40% of surviving children, justifying extended pediatric follow-up. This study confirms the usefulness of brain MRI as a diagnostic tool in hypoxic ischemic encephalopathy in association with clinical data and EEG tracings.

A fatal metastasis of Klebsiella pneumoniae to the lungs

To describe the relationship between a seemingly innocuous colonization in one organ and a fatal infection in another organ in a tetraplegic man. Case report. Veterans Administration Hospital, USA. A 61-year-old man, paralyzed at C7, American Spinal Injury Association Impairment Scale A for 31 years, presented with cough and negative sputum but urine positive for Klebsiella pneumoniae. After 2 days, he presented with sepsis and hypotension, received fluids and multiple antibiotics (blood and urine cultures taken after antibiotics were negative), and developed pulmonary failure 2 weeks after admission. Bronchial secretions obtained by bronchoscopy for mucous plugging revealed K. pneumoniae. The spectrum of antibiotic sensitivities for the organism from the initial urine and the later bronchial secretions was identical except for resistance to antibiotics administered between cultures. The subject developed an encephalopathy in association with respiratory acidosis, hyponatremia, hypoalbuminemia and renal failure and expired 36 days after presentation. The urinary and respiratory tracts were infected with the same organism, leading to fatal sepsis in a chronically paralyzed tetraplegic man, suggesting migration between the two sites.

Pancreatic encephalopathy and Wernicke encephalopathy in association with acute pancreatitis: A clinical study

To investigate clinical characteristics and therapy of pancreatic encephalopathy (PE) and Wernicke encephalopathy (WE). In a retrospective study of 596 patients with acute pancreatitis (AP), patients with PE were compared to those with WE in regards to history, clinical manifestation, diagnosis, treatment and outcome. There were 93 patients with severe acute pancreatitis (SAP). Encephalopathies were discovered in 10 patients (1.7%). Six patients with PE all developed in SAP (6.5%), and three of them died (3% of SAP, 50% of PE). Four patients with WE developed in AP (0.7%), and two of them died (0.3% of AP, 50% of WE). Two patients with WE were treated with parenteral thiamine and survived. Global confusions were seen in all patients with encephalopathy. Ocular abnormalities were found. Conjugate gaze palsies were seen in 1 of 6 (16.7%) patients with PE. Of 4 patients with WE, one (25%) had conjugate gaze palsies, two (50%) had horizontal nystagmus, three (75%) had diplopia, and one (25%) had myosis. Ataxia was not seen in all patients. None of patients with WE presented with the classic clinical triad. CSF examinations for 2 patients with WE showed lightly-increased proteins and glucose. CT and MRI of the brain had no evidence of characteristic abnormalities. PE occurs in early or reiteration stage of SAP, and WE in restoration stage of SAP/AP. Ocular abnormalities are the hallmarks of WE, and horizontal nystagmus is common. It is difficult to diagnose earlier an encephalopathy as PE or WE, as well as differentiate one from the other. Long fasting, hyperemesis and total parenteral nutrition (TPN) without thiamine are main causes of thiamine deficiency in the course of pancreatitis.

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNAser(UCN) gene

The authors report the clinical, neuroimaging, muscle biopsy and mtDNA findings in a patient affected by bilateral hearing loss and mental retardation since infancy, presenting at age 31 years with a rapid deterioration of mental status and ataxia leading to vegetative condition and death at the age of 32 years. Clinical and genetic studies have been also performed in the mother, affected by neurosensorial hearing loss. Muscle biopsy showed severe mitochondrial alterations in the propositus and evidence of mitochondrial alterations in his mother. Direct mtDNA sequencing in all family members revealed the known 7472insC mutation and the recently described A7472C sequence variation in the tRNASer(UCN)gene. RFLP–PCR confirmed the heteroplasmic nature of the two mutations and failed to find the second transversion in 200 controls. The percentage of mutant genomes harbouring 7472insC ranged from 3 to 7% in asymptomatic family members to 70% in the proband and his mother, whereas the percentage of A7472C mutant genomes was about 90% in all maternal relatives except the proband (56%) and his sister (5%). In conclusion, this is the first report of a rapidly progressive encephalopathy in association with the 7472insC mutation in mtDNA, combined with an A>C variation at the same nucleotide with a possible suppression effect on the pathogenic mutation.

Cerebral circulation and metabolism in patients with septic encephalopathy

Cerebral circulation and metabolism in septic encephalopathy have not been well documented. The authors measured cerebral blood flow (CBF) and metabolic rate for oxygen (CMRO 2) in six patients with septic encepalopathy associated with multiple organ failure (three to five organs). They found that CBF and CMRO 2 were significantly lower than awake control values of 46 ± 2 to 28 ± 3 mL/100g/min (mean ± SEM) and 3.1 ± 0.2 to 1.2 ± 0.2 mL/100g/min, respectively. Cerebral vascular resistance (CVB) and cerebral circulatory index (CCI:CBF/CMRO 2) were significantly higher than the control values of 2.0 ± 0.1 to 3.0 ± 0.4 mm Hg/mL/100g/min and 15.1 ± 0.8 to 24.2 ± 3.3, respectively. At the time of cerebral circulatory and metabolic measurements, their consciousness varied between 4 and 10 as evaluated by the Glasgow coma scale. The electroencephalogram showed diffuse slow wave activity and the latency of the auditory brain stem evoked response was prolonged in four of six patients. Computed brain tomography showed either no abnormality or mild atrophy. It is concluded that CBF and CMRO 2 are disproportionally decreased during septic encephalopathy in association with dysfunction of the CNS and decreased electrical activity.

Hashirnoto's encephalopathy

We describe 5 patients with a relapsing encephalopathy in association with Hashimoto's disease and high titers of anti-thyroid antibodies. The presentation is usually with a subacute onset of confusion, alteration in conscious level, and focal or generalized seizures. The relapsing course, association with myoclonus or tremulousness, and episodes of stroke-like deterioration are characteristic features. The long-term prognosis is favorable with steroid therapy, though additional immunosuppressive therapy may be required. Neurologic investigation typically shows a diffusely abnormal EEG, high CSF protein level without pleocytosis, and normal brain CT and cerebral angiogram. Isotope brain scan may show patchy abnormal uptake. Hashimoto's encephalopathy should be recognized as a definite neurologic entity and added to the list of CNS complications of thyroid disease.

食品・調味料中アンモニウム塩含有量の測定と肝性脳症治療食としての低アンモニア食作成について

In a similar way, it can be inferred that uncooked soy sauce used as a seasoning results in foods with a high NH3-N content. It appears that patients with high blood NH3-N levels in liver cirrhosis should eat foods with a low NH3-N content. Consequently, since non-heat-treated soy sauces contain a great deal of NH3-N, such patients should refrain from comsuming unprocessed soy sauce with their meals. We believe that education based on the above finding will have a significant therapeutic effect in preventing hepatic encephalopathy in association with hyperammonemia in patients with decompensated liver cirrhosis. The NH3-N content of a variety of foods was measured using the method described by Fujii and Okuda. A slightly high NH3-N content was detected in meat, chicken, and various canned foods. Extremely high concentrations of NH3-N were found in all soy sauces except the processed Dashiwari variety. Low NH3-N concentrations were found in fresh miso and milk. Since Dashiwari soy sauce was the only one with a low NH3-N content, it was concluded that NH3-N content decreased to 1/3 to 1/5 when foods were heated.

Wernicke's encephalopathy in association with complicated acute pancreatitis and morbid obesity

A young obese female with acute pancreatitis complicated by pseudocyst formation and intermittent gastric outlet obstruction, who had been maintained on high-calorie enteral feeds, developed a sudden onset of confusion and ophthalmoplegia associated with papilloedema and retinal haemorrhages. A possible diagnosis of Wernicke's encephalopathy (WE) was made, and the patient was treated with parenteral thiamine. Clinical resolution was complete. Any patient with suspicious or unusual neurological symptoms and signs associated with possible malnutrition, hyperemesis or malabsorption should be given intravenous thiamine without delay to avoid the potential morbidity and mortality associated with undiagnosed WE.

Hyperammonemic Encephalopathy: A Complication Associated with the Prune Belly Syndrome

Hyperammonemic encephalopathy in the urological patient is a rare but grave condition. In the pediatric urological population it has been associated with massively dilated upper tracts and urinary infection with urea-splitting organisms. We report 2 cases of hyperammonemic encephalopathy in association with the prune belly syndrome. Both patients presented comatose with markedly elevated serum ammonia levels and Proteus mirabilis urinary tract infection. Intravenous antibiotics and catheter drainage resulted in dramatic reversal of the encephalopathy. The pathophysiology of hyperammonemic encephalopathy in association with the prune belly syndrome and a review of the literature are presented.

Encephalopathy in association with ascariasis.

Twenty-five cases of encephalopathy in association with ascariasis have been studied. No other cause exceptAscaris lumbricoides could be incriminated for the encephalopathy in this series. Thus there is a strong possibility thatAscaris lumblicoides might have caused the encephalopathy in most of the cases studied.

Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings.

A new syndrome is described in a brother and a sister who show a similar range of minor dysmorphic features (frontal bossing, high palate, anteverted flares, hypertelorism, carp mouth), colobomata, and a diffuse encephalopathy in association with congenital hepatic fibrosis and childhood polycystic kidney disease. The relationship of the major features to each other is discussed and a differential diagnosis is outlined.