Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cyclosporine is a specially useful immunosuppressor agent in children subjected to renal transplantation, minimizing the deleterious effect of steroids on growth and the development of Cushing syndrome. However, side effects which require close supervision are well known, including liver, kidney and central nervous system toxicity. Seizures, cerebellar ataxia, aphasia, paresthesia and behavioral disorders are characteristic of the latter. Hypertension and hypomagnesemia have been identified as risk factors. In contrast to nephrotoxicity, CNS toxicity is not related to plasma levels of cyclosporine. In this paper 2 patients, 10 and 11 year old, manifesting cyclosporine neurotoxicity after renal transplant, are reported.
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PMID:[Neurotoxicity caused by cyclosporin A in renal transplantation in children]. 134 84

Hyperinsulinemia, a common cause of persistent hypoglycemia in infants and children, can result in permanent damage to the central nervous system. Thus, early diagnosis and treatment are important. The typical clinical manifestation of hyperinsulinemic hypoglycemia is symptomatic hypoglycemia that responds poorly to medical therapy. Affected infants may have tremors, jitteriness, apnea, cyanosis, or seizures. If initial medical therapy (frequent feedings, large amounts of intravenously administered glucose, diazoxide, and glucocorticoids) fails to stabilize plasma glucose levels, subtotal pancreatectomy is indicated. This surgical intervention does not completely correct the hypoglycemia in all patients, but it effectively reduces the severity of the condition. Surgical treatment of pediatric patients with Cushing's syndrome or aldosteronoma has also been effective. In our experience, survival of patients with adrenocortical adenomas has been 100%, whereas only five of nine children with adrenocortical carcinomas survived, and four of the five were younger than 10 years of age.
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PMID:Endocrine disorders of the pancreas and adrenal cortex in pediatric patients. 287 83

The usefulness of ACTH in the treatment of childhood epilepsy is assessed by improvement in the EEG and in the clinical condition. However, pronounced side effects, even serious ones, must be encountered. The most common complications are Cushing syndrome, infections, and arterial hypertension. We report on seven patients with infantile myoclonic seizures, who exhibited myocardial hypertrophy with increased left ventricular function during ACTH treatment. These changes were detected and followed by serial echocardiographic investigations. Within a period of 5 months after the termination of ACTH therapy the abnormal echocardiographic findings disappeared. We believe that the cardiac hypertrophy is ACTH-induced. Based on the various biological effects of ACTH different explanations are proposed: oedema or deposition of glycogen in the myocardial tissue, hyperinsulinism, arterial hypertension and increased inotropic stimulus. Because of our observations, we suggest careful monitoring of children treated with ACTH by performing serial echocardiographic investigations.
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PMID:Cardiac hypertrophy secondary to ACTH treatment in children. 608 43

Norplant, Depo-Provera, and the progestin-only pill are good for 35-50 year old women, since they are safe and have low failure rates. A beneficial feature of progestin-only contraceptives is the lack of thrombotic complications. They are good for couples considering sexual sterilization. Neither antibiotics nor antiseizure medicines reduce Depo-Provera's effectiveness. The only drug which reduces its effectiveness is aminoglutethimide (Cytadren), used to suppress adrenal function in some people with Cushing syndrome. Research indicates that Depo-Provera even reduces the frequency of seizures. Antiseizure medicines (except valproic acid) and the antibiotic, rifampin, greatly reduce the effectiveness of Norplant to prevent pregnancy. Antiseizure drugs increase hepatic enzymes, resulting in the breakdown of levonorgestrel. In those cases where women who already have Norplant need an antiseizure drug or rifampin, family planning practitioners should advise them to use another contraceptive. Many women using Depo-Provera experience amenorrhea (30-50% at 1 year, 70% at 2 years, and 80% at 5 years), but most find it to be a benefit. The most undesirable side effect of Depo-Provera is weight gain (5.4-16.5 lbs. after 1-6 years use, respectively), likely due to increased appetite. Women who use Norplant for 5 years gain on average a little less than 5 lbs. Once a woman is injected with Depo-Provera, she cannot immediately discontinue it, and its effects cannot be stopped. It takes 6 to 8 months to clear the body. Only 2 women have experienced anaphylactic reactions to Depo-Provera. Despite this rare event, it is important for practitioners to have epinephrine, steroids, and diphenhydramine to treat severe allergic reactions. A study finds reduced bone density among longterm Depo-Provera users, but it did not match for parity or smoking and did not determine bone density prior to injections of Depo-Provera. Further research on bone density and progestin-only contraceptives is needed.
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PMID:Ask the experts: progestin-only contraceptives. 1228 99

Regardless of their origin, neuroactive steroids are capable of modifying neural activities by modulating different types of membrane receptors. Neurosteroids are synthesized de novo in neurones and glia. Steroidogenic enzymes are found in the central nervous system. Classical steroid receptors are localized in the cytoplasm, they exert regulatory actions on the genome, and their activation causes medium- and long-term effects. Non-classical receptors are located within the membrane and act as mediators of short-term effects. Other important players are co-repressors and co-activators that can interfere with or enhance the activity of steroid receptors. Beyond their function in stress, corticosteroids play a very important role in fear, anxiety, and memory functions. Patients with Cushing's syndrome frequently develop mood disorder, reversible brain atrophy with transient memory loss, rarely delirium or psychosis. Well-known peripheral symptom is steroidal myopathy. In patients with Addison's disease the main signs are weakness of muscles, lack of energy, decreased mental functions and reduced quality of life. Estrogen and progesterone have their own respective hormone receptors, whereas allopregnanolone acts via the GABA receptors. These hormones have significant role in the development of brain, the architecture of neural circuits and dendrites, density of axonal connections, and the number of neurons. They influence maturation, neuroprotection, seizures, cognitive functions, mood, anxiety, pain, and restitution of peripheral nerves. Androgens also affect cognitive functions, pain, anxiety, mood, and additionally aggression.
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PMID:[Neurological and psychiatric aspects of some endocrine diseases. The role of neurosteroids and neuroactive steroids]. 1792 Nov 20

We report a 6-year-old girl with ACTH-independent Cushing syndrome secondary to bilateral adrenal hyperplasia; she presented with hypertension and seizures, and magnetic resonance imaging shows changes consistent with posterior reversible encephalopathy syndrome.
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PMID:Reversible posterior encephalopathy syndrome associated with micronodular adrenocortical disease and Cushing syndrome. 1941 27

Glucose transporter 1 (GLUT1) deficiency syndrome (DS) results from impaired glucose transport into brain. We describe the case of an 8-year-old girl with early-onset myoclonic epilepsy unresponsive to eight anticonvulsants. Oral steroid treatment achieved dramatic seizure control at the expense of Cushing syndrome and progressive fatty liver disease. Steroid withdrawal resulted in severe seizure exacerbation but was eventually enforced for lumbar puncture. GLUT1DS was diagnosed by hypoglycorrhachia and a heterozygous SLC2A1 mutation (Arg400His). A ketogenic diet resulted in effective seizure control. Steroids in GLUT1DS are unusual and unreported. Here a remarkable immediate and effective seizure control and a dose-independent unsuccessful steroid withdrawal indicated a potential GLUT1 sensitivity to steroids. We review the literature on GLUT1/steroid interactions and propose that unusual steroid sensitivity in intractable childhood epilepsy might be indicative for GLUT1DS.
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PMID:Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 2297 42

This review reports the main molecular alterations leading to development of benign cortisol- and/or aldosterone-secreting adrenal tumors. Causes of adrenal Cushing syndrome can be divided in 2 groups: multiple bilateral tumors or adenomas secreting cortisol. Bilateral causes are mainly primary pigmented nodular adrenocortical disease, most of the time due to PRKAR1A germline-inactivating mutations, and primary bilateral macronodular adrenal hyperplasia that can be caused in some rare syndromic cases by germline-inactivating mutations of MEN1, APC, and FH and of ARMC5 in isolated forms. PRKACA somatic-activating mutations are the main alterations in unilateral cortisol-producing adenomas. In primary hyperaldosteronism (PA), familial forms were identified in 1% to 5% of cases: familial hyperaldosteronism type I (FH-I) due to a chimeric CYP11B1/CYP11B2 hybrid gene, FH-II due to CLCN-2 germline mutations, FH-III due to KCNJ5 germline mutations, FH-IV due to CACNA1H germline mutations and PA, and seizures and neurological abnormalities syndrome due to CACNA1D germline mutations. Several somatic mutations have been found in aldosterone-producing adenomas in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 genes. In addition to these genetic alterations, genome-wide approaches identified several new alterations in transcriptome, methylome, and miRnome studies, highlighting new pathways involved in steroid dysregulation.
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PMID:Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome. 3278 15

Cushing syndrome (CS) occurs rarely in children. The clinical presentation of CS varies according to the extent and duration of glucocorticoid excess, and urolithiasis is one of the common complications of CS. We report the first case of a patient with CS associated with acute kidney injury (AKI) due to urolithiasis. A 6-year-old boy came to the emergency room with seizure. On physical examination, he had clinical features of CS and high blood pressure. Brain computerized tomography (CT) suggested posterior reversible encephalopathy syndrome due to hypertension. On the evaluation of hypertension, the laboratory tests suggested adrenocortical tumor, but the abdominal CT suggested pheochromocytoma. During further evaluation, his condition deteriorated with AKI due to bilateral ureteral stones, therefore he underwent continuous renal replacement therapy in the intensive care unit. After controlling hypercortisolism with etomidate and performing ureteral stent indwelling, resection of an adrenal mass was performed, and the mass was histologically confirmed as an adrenocortical adenoma. We review the clinical manifestations and diagnosis, and management of CS associated with urolithiasis and AKI. Early recognition and careful monitoring of urolithiasis in CS are important to avoid severe complications of urolithiasis.
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PMID:Cushing syndrome with acute kidney injury due to ureteral stones in a 6-year-old boy. 3287 46