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)

The objective of this study was to evaluate the clinical and endocrine profile of patients with precocious puberty followed up in a tertiary care hospital. Records of 140 patients (114 girls, 26 boys) with precocious puberty were reviewed. Clinical features including age of onset, stage of pubertal development, presenting symptoms, features suggestive of CNS involvement and family history were analyzed. Endocrine investigations included basal and GnRH-stimulated levels of LH and FSH as well as 17OHP, DHEA, hCG and thyroid profile. Abdominal and pelvic ultrasonography and CNS imaging were correlated with clinical features. Girls outnumbered boys in this series (4.4:1). Neurogenic central isosexual precocious puberty (CIPP) was more common in boys (10 out of 18, 55.6%) than girls (16 out of 77, 20.8%). The most common cause of neurogenic CIPP was hypothalamic hamartoma present in five girls and four boys. Other causes of neurogenic CIPP included neurotuberculosis, pituitary adenoma, hydrocephalus, post radiotherapy, CNS tumors and malformations. Peripheral precocious puberty (PPP) was secondary to adrenal causes in boys and ovarian cysts in girls. Benign variants of precocious puberty, such as premature thelarche and premature adrenarche, were present in 23 and six girls, respectively. Hypothyroidism was present in four girls and McCune-Albright syndrome in one girl. Girls with neurogenic CIPP had a lower age of onset as compared to idiopathic CIPP (3.6 +/- 2.7 years vs 5.4 +/- 2.5 years, p = 0.014). The lowest age of onset was seen in girls with hypothalamic hamartoma (1.6 +/- 0.9 years). Forty-seven girls with CIPP (seven neurogenic and 40 idiopathic) presented after the age of 6 years. Features of CNS involvement, in the form of seizures, mental retardation, raised intracranial tension or focal neurological deficits, were present in seven girls (43.8%) and four boys (40%), and gelastic seizures were present in three children. Girls with CIPP had greater bone age advancement (3.4 +/- 1.5 years) and negative height standard deviation for bone age (-2.7 +/- 1.5) than those with PPP (1.9 +/- 1.6 years and -1.3 +/- 1.3) and premature thelarche (0.4 +/- 0.4 years and -0.8 +/- 0.8). Patients with neurogenic CIPP had significantly higher levels of baseline and GnRH-stimulated levels of LH and FSH and LH:FSH ratio than those with idiopathic CIPP. Occurrence of neurogenic CIPP in seven girls with an age of onset after 6 years emphasizes the need for CNS imaging in these girls contrary to the current recommendations. The fact that 65.6% cases of idiopathic CIPP presented after the age of 6 years raises the possibility that these patients may be physiological variants of normal puberty. Pointers to neurogenic CIPP included early age of onset in girls, clinical features of CNS involvement, and elevated basal and stimulated LH levels and LH:FSH ratio.
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PMID:Precocious puberty: clinical and endocrine profile and factors indicating neurogenic precocity in Indian children. 1238 16

We studied the efficacy and safety of midazolam given as a continuous infusion in the treatment of refractory generalized convulsive status epilepticus (RGCSE). We carried out a prospective, open study, in 19 patients (11 men) with RGCSE in the intensive care unit at Firat Medical Center in Elazig. When intravenous administration of 0.3 mg/kg diazepam (three times at 5-min intervals), 20 mg/kg phenytoin, and 20 mg/kg phenobarbital failed to bring the episode under control, patients were administered an intravenous bolus of midazolam (200 microg/kg) followed by a continuous infusion at 1 microg/kg min. The dose was increased by 1 microg/kg min every 15 min until the episode of seizure was brought under control. The time from beginning of treatment to control of seizures, infusion rate, and side-effects were monitored. The mean age of the patients was 40.4 years (range 16-87 years). The clinical etiology of RGCSE was idiopathic epilepsy (6 cases), anoxicischemic cerebral insult due to cardiac arrest (3), viral encephalitis (2), intrahemispheric hematoma due to hemorrhagic stroke (1), cerebral infarct due to ischemic stroke (1), pituitary adenoma (1), post-traumatic epilepsy (1), renal failure (1), tuberculous meningitis (1), and unknown (2). In eighteen (94.7%) patients, seizures were completely controlled in a mean time of 45 min (range, 5-120 min) at a mean infusion rate of 8 microg/kg min (range, 3-21 microg/kg min). In one patient seizures did not stop. Midazolam administration did not cause any significant change in blood pressure, heart rate, oxygen saturation, or respiratory status. The mean time to full consciousness for patients after stopping the infusion was 1.6 hours (range, 2.0-8.5 hours). The mean infusion duration of midazolam was 14.5 hours (range, 12-25 hours). Midazolam is an effective and safe drug to control RGCSE, and may represent a substantial improvement over current therapeutic approaches such as pentobarbital anesthesia.
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PMID:Continuous infusion of midazolam in the treatment of refractory generalized convulsive status epilepticus. 1253 86

A total of 30 patients, aged 16 to 67, with neoplasms in the brain base and in paranasal sinuses were operated on, during 1997-2002, at Burdenko's Research Institute for Neurosurgery of the Russian Academy of Medical Sciences (RAMS). A majority of patients (21) had meningiomas. Other observations included: fibrous dysplasia of the anterior cranial fossa in 3 patients, chondroma in 2 patients, angiofibroma in 2 patients, pituitary adenoma in 1 patient and adamantinoma in 1 patient. The application of diluted subfrontal approach and of its modifications is indicated for extradural tumors located in the anterior cranial fossa and extending into the latticed main sinus of the nasopharynx. No increasing neurological symptomatology was noticed in any patients. Nasal liquor was not noted either. A seizure of an essential reduction of exophthalmos was registered in cases with crania-orbital neoplasm. It restored postoperatively in all patients with malfunctions of nasal breathing. Two patients died. The death reasons are not directly related with the approach technique. The diluted subfrontal approach is effective in extensive tumors of the anterior cranial fossa involving the latticed and main sinuses. Our experience of using the diluted subfrontal approach showed its efficiency not only in extensive extradural neoplasms but also in large meningiomas of the anterior cranial fossa extending into the latticed sinus, main bone platform, tubercle of sella turcica and into both optic canals. The discussed approach ensures essentially reduced brain traction as compared with the traditional subfrontal approach. The hermetic closure of defects formed in the brain basis is an important surgery stage involving the diluted subfrontal approach. This approach is, under modern conditions, a valuable addition to the methods, which are generally accepted in neurosurgery, and it has undoubtedly an indisputable perspective.
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PMID:[A broad subfrontal access to the tumors in the base of the skull]. 1285 99

We review six cases of primary brain tumours with an initial manifestation of symptoms during pregnancy. Three patients presented with epileptic seizures, two with progressive motor disturbance, and one with visual disturbance. Three patients were diagnosed as harbouring brain tumours at 20-25 weeks of pregnancy, while the remaining three were diagnosed at 36-38 weeks of pregnancy. The tumours consisted of three cerebral gliomas of various degrees of malignancy and one case each of cerebellar medulloblastoma, pituitary adenoma and convexity meningioma. Three patients safely underwent surgical removal of the tumours at 24-31 weeks of pregnancy without any adverse effects on the foetus and two received postoperative radiation therapy. In the remaining three patients, who ranged from 36-38 weeks of pregnancy at diagnosis, neurosurgical intervention was deferred until after delivery. Some of the problems in the management of brain tumours during pregnancy are discussed.
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PMID:Primary brain tumours manifesting during pregnancy: presentation of six cases and a review of the literature. 1863 98

The authors report an extremely rare co-occurrence of a thyrotropin secreting pituitary adenoma and a low grade glioma. A 35-year old patient was initially misdiagnosed and treated as a case of primary hyperthyroidism till he presented with visual symptoms and seizures. On evaluation he was also found to have a right frontal glioma. They discuss the presentation, clinical and diagnostic implications, treatment options and possible molecular pathways which help us understand the molecular biology of such tumor associations. They review literature of 12 previous indexed reports of pituitary tumors associated with various grades of gliomas. Though there are 3 previous reports of functioning pituitary tumors and gliomas, this is the first report of a thyrotropin secreting pituitary adenoma and an associated low grade glioma.
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PMID:Co-existing thyrotropin secreting pituitary adenoma and low grade glioma: clinical considerations and literature review. 1954 48

Purpose of this study is to determine the types, incidence, and severity of acute complications of intracranial stereotactic radiosurgery (SRS), specifically Gamma Knife (GK). Patients who had never had previous SRS were eligible for this prospective IRB-approved study. The questionnaire used applicable questions from CTCAE v.3.0, the Brief Pain Questionnaire (Short Form), Brief Fatigue Inventory, and the Tinnitus Handicap Inventory. Questionnaires were obtained prior to Gamma Knife (GK), 1 week, 1 month, and 2 months to assess complications. Seventy-six eligible patients (median age of 62 years) had complete data and were analyzed. Diagnoses included: 26 (34%) with brain metastases, 15 (20%) with trigeminal neuralgia, 12 (16%) with schwannoma, 10 (13%) with meningioma, 7 (9%) with arteriovenous malformation, 3 (4%) with pituitary adenoma, and 3 (4%) with other. At 1 week, 24% developed minimal scalp numbness (p =0.0004 baseline compared to 1 week). Only 13% had minimal scalp numbness at 1 month and 2% at 2 months (both p=NS compared to baseline). There was no difference in scalp tingling between baseline and the various time points. Thirteen percent developed pin site pain at 1 week with a median intensity level of 2 out of 10. By one month, only 3% had pin site pain with a median intensity level of 3 out of 10. Four percent developed pin-site infection at 1 week and none at 1 and 2 months. There was no significant difference in nausea from baseline at 1 week, but there was worsening nausea at 1 month (p =0.0114). By 1 month, 10% reported new local hair loss. 23%, 16%, and 15% complained of new/worsening fatigue at 1 week, 1 month, and 2 months, respectively, but 40% reported fatigue at baseline. Balance improved following SRS over all time periods (for all comparisons, p <0.009). 1%, 6%, and 3% developed new tinnitus at 1 week, 1 month, and 2 months, respectively, which was significant when comparing baseline to non-baseline (p =0.0269). Thirty-two patients were employed prior to SRS. Three (9%) patients did not return to work. Twenty-seven (84%) patients returned to work a median of 4 days after SRS. Two people did not report their employment status after SRS. There was no significant difference in face swelling, headache, eye pain, vomiting, seizures, or passing out at any intervals compared to baseline. This prospective study demonstrates that GK is well tolerated with few patients developing major acute effects. Many patients are able to return to work shortly after GK.
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PMID:Prospective study of the short-term adverse effects of gamma knife radiosurgery. 2233 5

Hepatocellular carcinoma rarely metastasizes to the pituitary gland and this site is very rarely the initial site of disease presentation. When it does, it may mimic a far more common pituitary adenoma. Metastatic hepatocellular carcinoma should be suspected in any individual with known liver disease or significant risk factors. The most common clinical sign of metastatic HCC to the skull is a subcutaneous mass followed by neurological deficits including visual disturbances, headache and seizure. The diagnosis can be made based on the histopathologic and immunohistochemical findings. When metastatic HCC is present in the skull base, appropriate work up should be done to rule out other metastatic sites, most commonly present in the spine.
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PMID:A 50-year-old man with back pain and a sellar mass. Metastatic hepatocellular carcinoma. 2358 45

Acute hypokalemic paralysis is characterized by muscle weakness or paralysis secondary to low serum potassium levels. Neurogenic diabetes insipidus (DI) is a condition where the patient excretes large volume of dilute urine due to low levels of antidiuretic hormone. Here, we describe a patient with neurogenic DI who developed hypokalemic paralysis without a prior history of periodic paralysis. A 30-year-old right-handed Hispanic male was admitted for refractory seizures and acute DI after developing a dental abscess. He had a history of pituitary adenoma resection at the age of 13 with subsequent pan-hypopituitarism and was noncompliant with hormonal supplementation. On hospital day 3, he developed sudden onset of quadriplegia with motor strength of 0 of 5 in the upper extremities bilaterally and 1 of 5 in both lower extremities with absent deep tendon reflexes. His routine laboratory studies revealed severe hypokalemia of 1.6 mEq/dL. Nerve Conduction Study (NCS) revealed absent compound motor action potentials (CMAPs) with normal sensory potentials. Electromyography (EMG) did not reveal any abnormal insertional or spontaneous activity. He regained full strength within 36 hours following aggressive correction of the hypokalemia. Repeat NCS showed return of CMAPs in all nerves tested and EMG revealed normal motor units and normal recruitment without myotonic discharges. In patients with central DI with polyuria, hypokalemia can result in sudden paralysis. Hypokalemic paralysis remains an important differential in an acute case of paralysis and early recognition and appropriate management is key.
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PMID:A case of hypokalemic paralysis in a patient with neurogenic diabetes insipidus. 2470 38

Adipsic diabetes insipidus (ADI) is a rare disorder. It can occur after transcranial surgery for craniopharyngeoma, suprasellar pituitary adenoma and anterior communicating artery aneurysm but also with head injury, toluene exposure and developmental disorders. It is often associated with significant hypothalamic dysfunction and complications like obesity, sleep apnea, thermoregulatory disorders, seizures and venous thromboembolism (VTE). Morbidity and mortality data have been reported as single case reports with only one large series suggesting increased risk for VTE in patients with ADI. Here we report a mini-series of four patients with ADI and VTE. Post-surgery immobilization, obesity, infection, with prolonged hospitalization, hemoconcentration and changes in coagulation which might be induced by inadequate hormone treatment in the postoperative period (high doses of glucocorticoids, sex steroids and DDAVP replacement) may all contribute to the pathogenesis of VTE. Thromboprophylactic treatment after pituitary surgery and during episodes of hypernatremia is therefore warranted.
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PMID:Adipsic diabetes insipidus and venous thromboembolism (VTE): recommendations for addressing its hypercoagulability. 2507 69

A constellation of newly diagnosed benign tumours and glioblastoma is an uncommon occurrence in a single individual. We present a case of a patient with a history of skin lipomas who presented with seizures and was found to have a left frontotemporal multifocal enhancing mass on MRI. Work-up for metastatic disease revealed a benign lung carcinoid tumour, a cervical schwannoma, adrenal masses, a growth hormone-secreting pituitary adenoma, and lastly a glioblastoma following brain biopsy.
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PMID:Simultaneous diagnosis of glioblastoma, cervical schwannoma, adrenal masses and growth hormone-secreting adenoma in a previously healthy patient. 3143 70


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