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)

Four children had optic nerve hypoplasia with hypopituitarism, and their clinical picture varied with age. The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice. The young infant had defective vision, behavioral delay, hypotonia, and seizures. Except for a mildly receding lower jaw and a high-arched palate, the appearance of the patients was not unusual. The fasting blood glucose level was mildly depressed. In two cases the liver was palpable and results of liver function tests were abnormal. The older child, who was blind and mentally retarded, had growth failure. The extent of the pituitary hormone deficiencies was variable, including diabetes insipidus. The septum pellucidum was not invariably absent. Clinical and pathological findings indicate that the brain lesion might be more diffuse than hitherto recognized. Early recognition of this syndrome and timely intervention might diminish serious sequels.
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PMID:Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism. 111 54

We report two cases of Langerhans' cell histiocytosis with unusual central nervous system (CNS) involvement. The first patient had behavioural disturbances, memory loss and diabetes insipidus. His response to a range of treatments was poor. The second patient presented with seizures and headaches suggestive of raised intracranial pressure. Etoposide (VP16) chemotherapy led to a dramatic clinical and radiological improvement. The various CNS manifestations of Langerhans' cell histiocytosis and their management are discussed.
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PMID:Langerhans' cell histiocytosis and the nervous system. 151 12

A randomized prospective trial has shown that folic acid started before conception and continued for the first trimester reduces the risk of recurrence of neural tube defects by 72% in women with a previously affected child. Carbamazepine exposure in utero is associated with a 1% risk of spina bifida. Long-term follow-up of antenatal exposure to phenobarbital and carbamazepine in two groups of infants shows no neurologic differences between the two groups. Magnesium sulfate is more effective in prevention of recurrent eclamptic seizures than phenytoin. During pregnancy, the need for thyroxine increases in many women. Vitamin B6 and ginger are both effective for nausea and vomiting in early pregnancy. Low-dose aspirin does not change the course of preeclampsia when it is started after the diagnosis is made. Angiotensin-converting enzyme inhibitors cause significant disturbances of fetal and neonatal renal function. Prophylactic beta-adrenergic agents fail to prevent prematurity in twins. Oral tocolysis with magnesium chloride or ritodrine is no more effective than observation alone. The risk of primary pulmonary hypertension in the newborn after indomethacin tocolysis is increased with prolonged therapy. Lithium causes polyhydramnios from fetal diabetes insipidus in utero. Treatment of Ureaplasma urealyticum infection with erythromycin during pregnancy does not eliminate the organism from the lower genital tract and does not improve perinatal outcome.
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PMID:Drug therapy during pregnancy. 154 29

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50

We report an infant with a craniopharyngioma which was detected in utero. Maternal uterine ultrasonography, done at 27 weeks because of polyhydramnios, revealed a 4 cm midline mass near the base of the fetal skull. At 31 weeks, magnetic resonance imaging of the maternal abdomen confirmed the presence of a mass in the region of the third ventricle and revealed hydrocephalus. Two days post-partum a computed tomography (CT)-guided needle biopsy of the mass was performed and recovered tissue which was histologically consistent with a craniopharyngioma. The infant's postnatal period was complicated by seizures, which were treated with phenobarbital, and by progressive hydrocephalus, necessitating placement of a ventriculo-peritoneal shunt. He also received therapy for central hypothyroidism and diabetes insipidus. The infant's parents refused permission for attempted resection of the tumour and he died at 8 weeks of age. This represents the second reported case of an antenatally detected craniopharyngioma. Four other cases of different intracranial tumours have been detected in utero using ultrasound, with no reported survivors past 3 days of age. There is a uniformly poor prognosis of such infants, but earlier diagnosis and intervention may change this result.
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PMID:Prenatal diagnosis of a craniopharyngioma using ultrasonography and magnetic resonance imaging. 227 87

A retrospective review of 114 solid organ donors over a 6-year period (1982-1987) was undertaken to identify problems in organ donor management and determine outcome of donated organs. Admission GCS was less than or equal to 4 in 84% of the donors. Complications included hypotension (81%), multiple transfusion requirements (63%), diabetes insipidus (53%), DIC (28%), arrhythmias (27%), cardiac arrest requiring CPR (25%), pulmonary edema (19%), hypoxia (11%), acidosis (11%), seizures (10%), and positive bacterial cultures (10%). Only 18% of organs were procured within 3 hours of brain death; 23% were procured more than 6 hours later. Six patients excluded from this study suffered cardiovascular collapse before their organs could be retrieved. From 114 organ donors, consent was obtained to procure 224 kidneys, 77 livers, 62 hearts, 35 pancreata, and ten heart-lung units. All 224 donated kidneys were procured and 202 were ultimately transplanted. Of 77 donated livers, 32 were procured; 31 transplanted. Of 62 donated hearts, 38 were procured; 29 transplanted and nine used for valves. Ten heart-lung units were donated; six were procured and transplanted. Of 35 donated pancreata, 11 were procured; only five were transplanted. Reasons for failure of donated organs to be procured or transplanted included abnormal organ characteristics, lack of compatible recipients, unavailability of surgical teams, organ injury during procurement, intraoperative arrest, and anatomic limitations precluding multiple organ procurement. This study identifies characteristics of organ donors and common organ-threatening complications. Rapid and continuing resuscitation of clinically brain dead trauma victims is mandatory.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Organ donor management and organ outcome: a 6-year review from a Level I trauma center. 235 1

A case is presented of a primigravida with transient diabetes insipidus, gestational hypertension, and multiple seizures resistant to magnesium sulfate and diazepam. After addition of phenytoin, no further seizures occurred. Transient diabetes insipidus in pregnancy has been previously associated with hypertension, liver dysfunction, and fetal distress. Considered with previous cases, it is suggested that seizures may frequently be part of this syndrome.
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PMID:Transient diabetes insipidus in pregnancy complicated by hypertension and seizures. 237 40

A 53-year-old man developed spastic ataxia associated with diabetes insipidus. The patient experienced frequent attacks of stiffness and numbness of the four limbs accompanied by difficulty of speech. During an eight years' follow-up a progressive deterioration of the motor function was observed but no extracerebral manifestations were noticed. The association of spastic ataxia is generally considered as diagnostic of histiocytosis X. In the present case, however, multiple sclerosis seems a more likely diagnosis in view of the late onset and the highly characteristic brain stem seizures.
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PMID:Diabetes insipidus in a patient with suspected multiple sclerosis. 238 1

Observation of neurosarcoidosis in a thirty-year-old black female characterised predominantly by bilateral facial nerve paralysis gave rise to a review of literature since 1978 and also to a comparison with an early study in 1963. As described 1963 the clinical picture is characterized by increased protein content of the CSF (33.8%), facial nerve paresis (25.5%), pleocytosis (23%), diabetes insipidus (21%), hemiparesis (17.2%), organic psychosis (16.9%), papilloedema (15.5%), ataxia (13%), convulsive seizures (12.5%), optic atrophy (12.5%), loss of hearing (12.2%), nystagmus (8.6%) and numerous other symptoms more rarely found. This corresponds to the symptoms of chronic basal meningitis with an infiltration in the neighbouring structures of brain and less frequently the spinal cord. In only 58.7% of the cases (presumably at the onset of sarcoidosis) was the bronchial tract (or the lungs) affected, in 11.5% the skin or the eyes. Although the clinical picture is clear enough the etiology has yet to be determined. Evidence of a pathogen or a pathogenic agent (analogous to berylliosis) has never been established to date. On the other hand there are some indications of a disturbance in the immune system, perhaps of a particular genetic foundation since sarcoidosis strikes black patients with conspicuous frequency. There exist more cases in one family. Exceeding expected random distribution, many patients have the HLA-Factor B 8 (on the chromosome 6) and DR 3. The Kveim-Test was in 71 cases positive, in 12 cases negative. The possibilities of carrying out studies of CSF - analogous to the studies of bronchial lavage - in the most cases of neurosarcoidosis have not been exhausted as to determine the activity of the T-lymphocytes, the interleucines, the angiotensin-converting enzyme while the Gallium 67 scintigraphy and other methods to determine the non-specific activity of the inflammation. The efficiency of the treatment with corticosteroids (Prednison or Triamcinolonacetonid) depends of the phase of the inflammatory process. 12% of the registered cases died.
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PMID:[Neurosarcoidosis. Comparative analysis of the clinical profile based on 537 cases from the world literature up to 1963 and from 1976-1988]. 240 26

A clinical and pharmacokinetic study was carried out progressively substituting a new anticonvulsant oxcarbazepine for its congener carbamazepine in a group of patients with refractory epilepsy. Although oxcarbazepine showed possible though not statistically significant advantages of better seizure control and was probably less sedating, its use was associated with a dose-dependent reduction in plasma sodium levels in 12 of 15 patients. The mean plasma sodium level fell from 137.5 +/- 5.2 (s.d.) to 128.5 +/- 6.1 mE/l. Imposed restriction of fluid intake may have minimized the degree of hyponatraemia. This adverse effect may limit the role of the drug as an anticonvulsant or necessitate special precautions when it is used. However, the possibility of employing the drug in diabetes insipidus may be worth exploring.
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PMID:Hyponatraemia during oxcarbazepine therapy. 268 Aug 97


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