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

We report the case of a three week old newborn who developed bilateral adrenal hemorrhage. This is an extraordinary case because of the late presentation of the hemorrhage as well as the excessive amount of blood involved. The newborn was the product of a normally evolved to full-term pregnancy, with a prolonged and traumatic delivery. The child had severe neonatal hypoxia and encephalopathy which required intensive care. The child was discharged in good conditions a week later. A week after that, the child is readmitted due to circulatory collapse, extreme paleness and a hemoglobin count of 3 g/dL. The newborn was treated for hypovolemic shock and improved substantially. The bilateral intraabdominal mass was detected and using an intravenous pyelography, ultrasonography and a CAT scan, a severe bilateral adrenal hemorrhage was seen. Adrenal failure was excluded and the child's care allowed for him to be discharged a week later in excellent conditions an followed as an outpatient until the hematomas subsided. This problem should be suspected in hypoxic newborns for which they should be submitted to abdominal ultrasonography before being discharged.
 ...
PMID:[Massive neonatal hemorrhage of the adrenal glands]. 227 50

Adrenoleukodystrophy (ALD) is a sex-linked recessive metabolic encephalopathy usually beginning in childhood. This series of 20 cases showed the following associated symptoms: mental deterioration (20 cases), behavior modification (19 cases), decreased visual acuity (17 cases), deafness (13 cases) and seizures (7 cases). Adrenal insufficiency often consisted only of melanoderma (13 cases). Diagnosis was assessed by characteristic CT-scan findings (8 of 13 cases), adrenocortical insufficiency partial glucocorticoid (19 of 19 investigated cases) or global, mineralo- and involving both aldosterone and glucocorticoid hormones (9 of 17 investigated cases) and by the presence of specific inclusions on the skin and/or conjunctival biopsy (5 of 7 cases).
 ...
PMID:[Adrenoleukodystrophy in children. Apropos of 20 cases]. 629 22

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.
 ...
PMID:[Adrenoleukodystrophy--clinical, biochemical and therapeutic aspects]. 780 91

Acute liver failure and septic shock share many clinical features, including hyperdynamic cardiovascular collapse. Adrenal insufficiency may result in a similar cardiovascular syndrome. In septic shock, adrenal insufficiency, defined using the short synacthen test (SST), is associated with hemodynamic instability and poor outcome. We examined the SST, a dynamic test of adrenal function, in 45 patients with acute hepatic dysfunction (AHD) and determined the association of these results with hemodynamic profile, severity of illness, and outcomes. Abnormal SSTs were common, occurring in 62% of patients. Those who required noradrenaline (NA) for blood pressure support had a significantly lower increment (median, 161 vs. 540 nmol/L; P <.001) following synacthen compared with patients who did not. Increment and peak were lower in patients who required ventilation for the management of encephalopathy (increment, 254 vs. 616 nmol/L, P <.01; peak, 533 vs. 1,002 nmol/L, P <.01). Increment was significantly lower in those who fulfilled liver transplant criteria compared with those who did not (121 vs. 356 nmol/L; P <.01). Patients who died or underwent liver transplantation had a lower increment (148 vs. 419 nmol/L) and peak (438 vs. 764 nmol/L) than those who survived (P <.01). There was an inverse correlation between increment and severity of illness (Sequential Organ Failure Assessment, r = -0.63; P <.01). In conclusion, adrenal dysfunction assessed by the SST is common in AHD and may contribute to hemodynamic instability and mortality. It is more frequent in those with severe liver disease and correlates with severity of illness.
 ...
PMID:The clinical importance of adrenal insufficiency in acute hepatic dysfunction. 1214 48

Korsakoff's syndrome of obscure etiology was observed in a 34-year-old single woman with an 11-year history of hirsutism and mood swings, and previous hospitalizations for mania three years ago and depression 11 years ago.Recently the virilism had intensified with increased muscularity and coarsening of facial features. The 24-hour urinary 17-ketosteroids ranged between 14.4 mg. and 21.5 mg. and were suppressed by dexamethasone. The 17-hydroxycorticosteroid excretion was normal. These and other findings suggested a diagnosis of adrenal virilism due to adrenocortical hyperplasia. In the absence of other discernible causes it appeared that the adrenal pathology was responsible for the Korsakoff's syndrome. Both conditions responded well to glucocorticoid therapy although low doses were necessary to avoid mania.It is speculated that the encephalopathy was due to an associated adrenal insufficiency. Although hypoadrenalism is accepted as a complication of only the infant form of adrenal virilism, it is noteworthy that this patient had pathological pigmentation of her skin.
 ...
PMID:KORSAKOFF'S SYNDROME ASSOCIATED WITH ADRENAL VIRILISM. 1415 54

Antiphospholipid syndrome has received considerable attention from the medical community because of its association with a number of serious clinical disorders, including arterial and venous thromboembolism, acute ischemic encephalopathy, recurrent pregnancy loss, thrombocytopenia, and livido reticularis. It can occur within the context of several diseases, mainly autoimmune disorders, and is then called secondary antiphospholipid syndrome. However, it may be also be present without any recognizable disease, or so-called primary antiphospholipid syndrome. There is no defined racial predominance for primary antiphospholipid syndrome, although a higher prevalence of systemic lupus erythematosus (SLE) occurs in African Americans and the Hispanic population. Multiple terms exist for this syndrome, some of which can be confusing. Lupus anticoagulant syndrome, for example, is a misleading term, because patients may not necessarily have SLE, and it is associated with thrombotic rather than hemorrhagic complications. To avoid further confusion, antiphospholipid syndrome is currently the preferred term for this clinical syndrome. Antiphospholipid antibodies are found in 1% to 5% of young healthy control subjects; however, the incidence increases with age and coexistent chronic disease. The syndrome occurs most commonly in young to middle-aged adults; however, it also can occur in children and the elderly. Among patients with SLE, the prevalence of antiphospholipid antibodies is high, ranging from 12% to 30% for anticardiolipin antibodies, and 15% to 34% for lupus anticoagulant antibodies. In general, anticardiolipin antibodies occur approximately five times more often then lupus anticoagulant in patients with antiphospholipid syndrome. This syndrome is the most common cause of acquired thrombophilia, associated with either venous or arterial thrombosis or both. It is characterized by the presence of antiphospholipid antibodies, recurrent arterial and venous thrombosis, and spontaneous abortion. Rarely, patients with antiphospholipid syndrome may have fulminate multiple organ failure, or catastrophic antiphospholipid syndrome. This is caused by widespread microthrombi in multiple vascular beds, and can be devastating. Patients with catastrophic antiphospholipid syndrome may have massive venous thromboembolism, along with respiratory failure, stroke, abnormal liver enzyme concentrations, renal impairment, adrenal insufficiency, and areas of cutaneous infarction. According to the international consensus statement, at least one clinical criterion (vascular thrombosis, pregnancy complications) and one laboratory criterion (lupus anticoagulant, antipcardiolipin antibodies) should be present for a diagnosis of antiphospholipid syndrome. The hallmark result from laboratory tests that defines antiphospholipid syndrome is the presence of antibodies or abnormalities in phospholipid-dependent tests of coagulation, such as dilute Russell viper venom time. There is no consensus for treatment among physicians. Overall, there is general agreement that patients with recurrent thrombotic episodes require life-long anticoagulation therapy and that those with recurrent spontaneous abortion require anticoagulation therapy and low- dose aspirin therapy during most of gestation. Prophylactic anticoagulation therapy is not justified in patients with high titer anticardiolipin antibodies with no history of thrombosis. However, if a history of recurrent deep vein thrombosis or pulmonary embolism is established, long-term anticoagulant therapy with international normalized ratio (INR) of approximately 3 is needed.
 ...
PMID:Antiphospholipid syndrome. 1467 58

Patients with cirrhosis present an increased susceptibility to bacterial infections, which are the cause of hospital admission in about 10% of patients and are present in about 40% of those admitted for ongoing complications. Lastly, about a third of patients develop nosocomial infections. Spontaneous bacterial peritonitis (SBP) is the most frequent infection in advanced cirrhosis; it is mostly caused by Gram-negative bacteria of intestinal origin, but Gram-positive cocci can be involved in nosocomial-acquired SBP. Its occurrence is associated with complications, such as renal and circulatory failure, cardiac dysfunction, coagulopathy, encephalopathy, and relative adrenal insufficiency, ultimately leading to multi-organ failure and death within a few days or weeks in about 30% of cases. The main mechanism underlying the development of SBP, as well as other bacterial infections in cirrhosis, is represented by bacterial translocation from the intestinal lumen to mesenteric lymph nodes or other extraintestinal organs and sites. This process is facilitated by several factors, including changes in intestinal flora, portal hypertension, and, mainly, impairment in local/systemic immune defense mechanisms. Bacterial infections in advanced cirrhosis evoke an enhanced systemic inflammatory response, which explains the ominous fate of PBS. Indeed, an exaggerated production of cytokines ensues, which ultimately activates vasodilating systems and generates reactive oxygen species. Primary antibiotic prophylaxis of PBS is warranted in those conditions implying an increased incidence of bacterial infections, such as gastro-intestinal bleeding and low protein content in ascites associated with severe liver and/or renal dysfunction. Fluoroquinolones are commonly employed, but the frequent occurrence of resistant bacterial strains make third generation cephalosporins preferable in specific settings. The high PBS recurrence indicates secondary antibiotic prophylaxis.
 ...
PMID:Spontaneous bacterial peritonitis: from pathophysiology to prevention. 2086 73

The syndrome of inappropriate secretion of antidiuretic hormone (SIADH)/syndrome of inappropriate antidiuresis is characterized by a hypotonic hyponatremia, with an insufficiently diluted urine given the plasmatic hypoosmolality, in the absence of hypovolemia (with or without a third space), hypotension, renal or heart failure, cirrhosis of the liver, hypothyroidism, adrenal insufficiency, vomiting, or other non-osmotic stimuli of ADH secretion. The response of ADH to the infusion of hypertonic saline divides SIADH into 4 different types. In type D, there is no alteration in ADH secretion. Rather, the defect is the maintained permeability of kidney aquaporin-2 channels to water. Activating mutations of the V2 receptor have been identified. The most frequent cause of SIADH is the use of drugs that induce secretion of the hormone. Old age is per se a risk factor for its development. SIADH is underdiagnosed, and hospitalization often worsens the clinical situation, due to an iatrogenic excess in the use of oral and i.v. liquids, often hypotonic, together with a reduction in salt intake. Treatment is directed towards normalization of natremia when possible, together with the avoidance of both hyponatremic encephalopathy as well as the osmotic demyelinization syndrome. Cases of "appropriate" secretion of ADH with normovolemic hyponatremia and high mortality rates should be treated with the same urgency as SIADH--such is the case of post-surgical hyponatremia.
 ...
PMID:[Current considerations in syndrome of inappropriate secretion of antidiuretic hormone/syndrome of inappropriate antidiuresis]. 2113 Sep 59

Acute encephalopathy in childhood is frequently associated with common infections, especially in East Asia. Various types have been identified although many cases remain unclassified. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease presenting impairment of cortisol biosynthesis. We report three CAH children with acute infection-related encephalopathy. They exhibited disturbed consciousness or seizures, which did not improve after glucocorticoid administration, accompanied by clinical and laboratory findings of adrenal insufficiency. Brain MRI disclosed various patterns of white matter lesions, suggesting different types of acute encephalopathy such as clinically mild encephalitis/encephalopathy with a reversible splenial lesion or hemiconvulsion-hemiplegia syndrome. Acute encephalopathy should be considered and brain MRI immediately performed when impairment of consciousness does not improve after intravenous glucocorticoid administration in CAH patients. Further research is required to elucidate the epidemiology and pathogenic mechanisms of acute encephalopathy in CAH.
 ...
PMID:Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasia. 2149 29

Antidiuretic hormone (ADH), or arginine vasopressin (AVP), is primarily regulated through plasma osmolarity, as well as non-osmotic stimuli including blood volume and stress. Links between water-electrolyte and carbohydrate metabolism have also been recently demonstrated. AVP acts via the intermediary of three types of receptors: V1a, or V1, which exerts vasoconstrictive effects; pituitary gland V1b, or V3, which participates in the secretion of ACTH; and renal V2, which reduces the excretion of pure water by combining with water channels (aquaporin 2). Antidiuresis syndrome is a form of euvolaemic, hypoosmolar hyponatraemia, which is characterised by a negative free water clearance with inappropriate urine osmolality and intracellular hyper-hydration in the absence of renal, adrenal and thyroid insufficiency. Ninety percent of cases of antidiuresis syndrome occur in association with hypersecretion of vasopressin, while vasopressin is undetectable in 10% of cases. Thus the term "antidiuresis syndrome" is more appropriate than the classic name "syndrome of inappropriate ADH secretion" (SIADH). The clinical symptoms, morbidity and mortality of hyponatraemia are related to its severity, as well as to the rapidity of its onset and duration. Even in cases of moderate hyponatraemia that are considered asymptomatic, there is a very high risk of falls due to gait and attention disorders, as well as rhabdomyolysis, which increases the fracture risk. The aetiological diagnosis of hyponatraemia is based on the analysis of calculated or measured plasma osmolality (POsm), as well as blood volume (skin tenting of dehydration, oedema). Hyperglycaemia and hypertriglyceridaemia lead to hyper- and normoosmolar hyponatraemia, respectively. Salt loss of gastrointestinal, renal, cutaneous and sometimes cerebral origin is hypovolaemic, hypoosmolar hyponatraemia (skin tenting), whereas oedema is present with hypervolaemic, hypoosmolar hyponatraemia of heart failure, nephrotic syndrome and cirrhosis. Some endocrinopathies (glucocorticoid deficiency and hypothyroidism) are associated with euvolaemic, hypoosmolar hyponatraemia, which must be distinguished from SIADH. Independent of adrenal insufficiency, isolated hypoaldosteronism can also be accompanied by hypersecretion of vasopressin secondary to hypovolaemia, which responds to mineralocorticoid administration. The causes of SIADH are classic: neoplastic (notably small-cell lung cancer), iatrogenic (particularly psychoactive drugs, chemotherapy), lung and cerebral. Some causes have been recently described: familial hyponatraemia via X-linked recessive disease caused by an activating mutation of the vasopressin 2 receptor; and corticotropin insufficiency related to drug interference between some inhaled glucocorticoids and cytochrome p450 inhibitors, such as the antiretroviral drugs and itraconazole, etc. SIADH in marathon runners exposes them to a risk of hypotonic encephalopathy with fatal cerebral oedema. SIADH treatment is based on water restriction and demeclocycline. V2 receptor antagonists are still not marketed in France. These aquaretics seem effective clinically and biologically, without demonstrated improvement to date of mortality in eu- and hypervolaemic hyponatraemia. Obviously treatment of a corticotropic deficit, even subtle, should not be overlooked, as well as the introduction of fludrocortisone in isolated hypoaldosteronism and discontinuation of iatrogenic drugs.
 ...
PMID:Hyponatremia and antidiuresis syndrome. 2211 69


1 2 Next >>