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

Radiation-induced brain disorders (RIBD) are uncommon and they are grave sequelae of conventional radiotherapy. In the present report, we describe the clinical spectrum of RIBD in 11 patients who received post-surgery conventional megavoltage irradiation for residual pituitary tumours. Of these 11 patients (nine men, two women), seven had been treated for non-functioning pituitary tumours and four for somatotropinomas. At the time of irradiation the age of these patients ranged from 30 to 59 years (mean, 39.4 +/- 8.3; median, 36) with a follow-up period of 6-96 months (mean, 18.3 +/- 26.4; median, 11). The dose of radiation ranged from 45 to 90 Gy (mean, 51.3 +/- 13.4; median, 45), which was given in 15-30 fractions (mean, 18.6 +/- 5.0; median, 15) with 2.8 +/- 0.3 Gy (median, 3) per fraction. The biological effective dose calculated for late complications in these patients ranged from 78.7 to 180 Gy (mean, 99.1 +/- 27.5; median, 90). The lag time between tumour irradiation and the onset of symptoms ranged from 6 to 168 months (mean, 46.3 +/- 57.0; median, 57). The clinical spectrum of RIBD included new-onset visual abnormalities in five, cerebral radionecrosis in the form of altered sensorium in four, generalized seizures in four, cognitive dysfunction in five, dementia in three and motor deficits in two patients. Magnetic resonance imaging (MRI)/CT of the brain was suggestive of radionecrosis in eight, cerebral oedema in three, cerebral atrophy in two and second neoplasia in one patient. Associated hormone deficiencies at presentation were hypogonadism in eight, hypoadrenalism in six, hypothyroidism in four and diabetes insipidus in one patient. Autopsy in two patients showed primitive neuroectodermal tumour (PNET) and brainstem radionecrosis in one, and a cystic lesion in the left frontal lobe following radionecrosis in the other. We conclude that RIBD have distinctive but varying clinical and radiological presentations. Diabetes insipidus and PNET as a second neoplastic disorder in adults following pituitary irradiation have not been reported previously.
 ...
PMID:Radiation-induced brain disorders in patients with pituitary tumours. 1534 84

A non-fatal case of sodium toxicity in a six-year-old boy is presented. Hypernatremia is the clinical term for an excessive concentration of sodium relative to water in the body. The diagnosis of hypernatremia was made at serum sodium (Na(+)) concentrations exceeding 150 mEq/L, and few people have been reported to survive concentrations greater than 160 mEq/L. This case involves a six-year-old boy who was taken to the hospital following a seizure attack, and lab analyses revealed serum sodium (Na(+)) levels of 234 mEq/L and serum chloride (Cl(-)) levels of 205 mEq/L. Clinical tests ruled out diabetes insipidus, dehydration, renal pathology, and other primary causes of hypernatremia. The child's purported history of pica, and the lab results indicating corresponding increases in levels of serum sodium (Na(+)) and serum (Cl(-)), led to a diagnosis of acute sodium toxicity by ingestion of sodium chloride. A search of the boy's house led to the discovery of rock salt in the cabinet and a container of table salt. Extrapolating from the serum sodium (Na(+)) level, it was estimated that the child had ingested approximately four tablespoons of rock salt, leading to the acute toxicity. A literature search revealed that the serum sodium (Na(+)) concentration in the present report was the highest documented level of sodium in a living person.
 ...
PMID:A non-fatal case of sodium toxicity. 1551 9

Craniopharyngiomas are rare brain tumors of the hypothalamo-pituitary region, developing from embryonic remnants of Rathke's pouch and sac. Their overall incidence is 0.13 per 100,000 person years. Most frequently, they are suprasellar, start growing in childhood and originate neurological and hormonal symptoms. We retrospectively studied patients treated in our institution for craniopharyngioma in the last 10 years, in order to evaluate their clinical, imaging and pathological characteristics. Of the 32 patients analysed, 18 were females and 14 males with ages ranging between 6 and 81 years (early onset group--EOG aged 5-14 years: 7 patients; middle age onset group--MAOG aged 15-49 years: 15 patients; late age onset group--LOG aged > or = 50 years: 10 patients). Visual impairment was the most frequent presenting clinical feature in EOG (71.4%) and MAOG (86.6%), while in the LOG personality and cognitive changes including memory loss predominated (60%). Headaches were very frequent in all groups (EOG 42.8%, MAOG 60%, LOG 40%). Meningitis and seizures were presenting features, each in one patient. Regarding endocrine symptoms and signs, growth failure was present in 57.2% of the EOG. Amenorrhea was present in 5 of 10 female patients of the MAOG. Preoperatively, TSH was deficient in 25%, ACTH in 15.6% and gonadotropin in 25% of the patients. There were no cases of diabetes insipidus. Preoperative CT and MR revealed a calcified mass in 12 (37.5%), a partially cystic mass in 20 (62.5%) and a lesion involving or extending into the third ventricle in 7 (21.9%) patients. Twenty seven (84.4%) patients were treated primarily by surgery. In 4 (12.5%) cases the tumour was considered inoperable and 1 (3.1%) patient refused surgery; all were in the LOG. Surgical approach was transsphenoidal in 2/27 (7.4%) (all of them in the LAOG) and by craniotomy in the others. The tumour removable was considered complete in 10 (37%--EOG 2/7, MAOG 6/15, LOG 2/5) and subtotal in 17 (62.9%) patients. Eight (29.6%) patients were reoperated for recurrent tumour. Postoperative radiotherapy was administered in 12 cases with residual tumor, and 3 inoperable tumors were treated primarily by conventional external radiotherapy. Pathological study revealed the adamantinomatous type in 25 (92.6%) and the papillary type in 2 (7.4%--all men in the MAOG) tumors. The average follow-up was longer in the EOG (82.6 +/- 40.7 months) than in MAOG (57.2 +/- 48.5 months) and in LOG (48 +/- 92 months). Four (12.5%) patients died, 1 during the follow-up period due to a radiation-induced astrocytoma and 3 in the postoperative period because of cerebral hemorrhage and hydrocephalus (1 in the EOG and 2 in the LOG). In summary, we found the clinical presentation to be different in the 3 age groups, with a large number of patients in the MAOG. In this group were the only examples of the papillary form. Better prognosis was associated with a total resection at initial surgery.
 ...
PMID:[Craniopharyngiomas. Clinicopathological aspects in different age groups]. 1552 57

A previously healthy 30-day-old girl presented with seizures, irritability and inability to sleep for three days. Vitamin K was not given just after birth. She was lethargic. A multifocal clonic seizure was evident during examination. Anisocoria was diagnosed on eye examination. Brain magnetic resonance imaging showed intracerebral hemorrhage, ventricular dilatation, and hematoma in the left temporofrontal region extending to the hypothalamus. Central diabetes insipidus was diagnosed by water deprivation due to dehydration and hypernatremia, and then desmopressin was added to phenobarbital. The possible mechanism of central diabetes insipidus in our patient is damage of vasopressin pathway resulting from compression of hemorrhage. An operation of ventriculoperitoneal shunt was also performed due to hydrocephalus. While she was symptom-free except for neurological sequel during routine control examinations after discharging from hospital, the parents said that she died, most probably from bronchopneumonia, at the age of 7.5 months. In conclusion, we emphasize that prophylactic vitamin K should be administrated to all babies just after birth, and infants with intracranial hemorrhage should carefully be monitored for central diabetes insipidus.
 ...
PMID:Central diabetes insipidus following intracranial hemorrhage due to vitamin K deficiency in a neonate. 1630 78

Thrombotic thrombocytopenic purpura (TTP) is a rare and often fatal disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, mental status changes, and renal dysfunction. Central diabetes insipidus (CDI) is a rare disease due to anatomic lesions of the hypothalamicpituitary system associated with various underlying diseases, or trauma. We present an unusual case of TTP and CDI in a 47 year-old African American female who was admitted to our hospital with crampy abdominal pain and nausea. The patient had tachycardia, fever and hypotension. The patient subsequently became confused, developed seizures, and her renal function deteriorated. Bone marrow analysis showed adequate megakaryocytes while a peripheral smear revealed severe thrombocytopenia, polychromasia and schistocytes. The diagnosis of thrombotic thrombocytopenic purpura (TTP) was made and plasmapharesis initiated. Over the next few days, the patient developed severe polyuria with a rise in serum sodium. Central diabetes insipidus was diagnosed and DDAVP (desmopressin acetate, 1-deamino-8-D-arginine vasopressin) was given. However, DDAVP was stopped several times due to worsening thrombocytopenia. Renal function worsened and the patient expired. A review of the literature revealed only one case of report of TTP and central diabetes insipidus. Our case was the only one reporting the use of DDAVP in such a setting.
 ...
PMID:Unique case of thrombotic thrombocytopenic purpura and diabetes insipidus. 1641 83

A rare case of hypothalamic glioma in a 7-year-old boy presenting with seizures and diabetes insipidus is reported. Near total decompression of the hypothalamic glioma was done successfully using subfrontal approach. The patient had a stormy postoperative course due to status epilepticus but went on to make a complete recovery. Postoperative radiotherapy/chemotherapy was not given in view of tumor histology (low grade glioma), patient's age and tumor location. Patient remains symptom and seizure free on antiepileptics at 3-year follow-up. The case is presented in the light of its rarity and the literature is reviewed.
 ...
PMID:Hypothalamic glioma presenting with seizures. a case report and review of the literature. 1671 68

Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown etiology that affects multiple organs. We report 6 cases of ECD with neurological involvement and neuroradiological abnormalities on brain MRI. A literature review revealed 60 other cases of ECD with neurological involvement. We therefore analyzed 66 ECD patients with neurological involvement. Cerebellar and pyramidal syndromes were the most frequent clinical manifestations (41% and 45% of cases), but seizures, headaches, neuropsychiatric or cognitive troubles, sensory disturbances, cranial nerve paralysis or asymptomatic lesions were also reported. Neurological manifestations were always associated with other organ involvement, especially of bones (at least 86%) and diabetes insipidus (47%). Neurological involvement was responsible for severe functional handicaps in almost all patients and was responsible for the death of 6 of the 66 patients (9%). Neuroradiological findings could be separated into three patterns: the infiltrative pattern (44%), with widespread lesions, nodules or intracerebral masses, the meningeal pattern (37%), with either thickening of the dura mater or meningioma-like tumors, and the composite pattern (19%), with both infiltrative and meningeal lesions.
 ...
PMID:Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. 1706 20

Cerebral salt wasting is an increasingly recognized condition in pediatrics and is characterized by inappropriate natriuresis and volume contraction in the presence of cerebral pathology. Diagnosis can be difficult and therapy challenging. A few single case reports of the successful use of fludrocortisone exist. We report 4 patients with cerebral salt wasting, all of whom presented with hyponatremia in the presence of known intracerebral pathology. All had clinically significant hyponatremia, and 3 had hyponatremic seizures. Two of the patients also satisfied clinical criteria for diabetes insipidus. They all were treated with regimens using increased sodium and fluid administration but experienced ongoing salt wasting. Fludrocortisone was instituted in all 4 patients and in 3 resulted in rapid improvement in net sodium balance, enabling the weaning of hypertonic fluids and stabilization of serum electrolytes. In 3 patients, fludrocortisone treatment was complicated by hypokalemia, and in 1 patient by hypertension, which necessitated a dose reduction or brief cessation of therapy. Duration of therapy was 4 to 125 days. Cerebral salt wasting presents considerable management challenges; however, fludrocortisone therapy can be an effective adjunct to treatment.
 ...
PMID:Fludrocortisone therapy in cerebral salt wasting. 1710 13

Erdheim-Chester disease is a rare, systemic histiocytosis that involves multiple organ systems and causes symmetric sclerosis of the metaphysis and diaphysis of the long bones. We present 2 cases and reviewed 108 patients reported in the literature who had neurologic manifestations of Erdheim-Chester disease. After eye involvement or diabetes insipidus, cerebellar symptoms were most frequently encountered, followed by tumor, headaches, cord compression, mental status change, seizures, and change in libido. A wide range of neurological symptoms can be seen in ECD. Therefore we hope the review brings more awareness about this disorder.
 ...
PMID:Neurologic presentation of Erdheim-Chester disease. 1710 53

We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of a symptomatic epilepsy syndrome in a group of seven distantly related Old Order Mennonite children. Autozygosity mapping was inconclusive, but closer inspection of the data followed by formal SNP copy number analyses showed that all affected patients had homozygous deletions of a single SNP (rs721575) and their parents were hemizygous for this marker. The deleted SNP marked a larger deletion encompassing exons 9-13 of LYK5, which encodes STE20-related adaptor protein, a pseudokinase necessary for proper localization and function of serine/threonine kinase 11 (a.k.a. LKB1). Homozygous LYK5 deletions were associated with polyhydramnios, preterm labour and distinctive craniofacial features. Affected children had large heads, infantile-onset intractable multifocal seizures and severe psychomotor retardation. We designated this condition PMSE syndrome (polyhydramnios, megalencephaly and symptomatic epilepsy). Thirty-eight percent (N = 16) of affected children died during childhood (ages 7 months to 6 years) from medical complications of the disorder, which included status epilepticus, congestive heart failure due to atrial septal defect and hypernatremic dehydration due to diabetes insipidus. A single post-mortem neuropathological study revealed megalencephaly, ventriculomegaly, cytomegaly and extensive vacuolization and astrocytosis of white matter. There was abundant anti-phospho-ribosomal S6 labelling of large cells within the frontal cortex, basal ganglia, hippocampus and spinal cord, consistent with constitutive activation of the mammalian target of rapamycin (mTOR) signalling pathway in brain.
 ...
PMID:Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. 1752 5


<< Previous 1 2 3 4 5 6 7 Next >>