Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a case of X-linked lymphoproliferative syndrome (XLP) with multiple nodular lesions in the brain and lungs. A 21-year-old man was admitted because of one month history of low grade fever, headache, nausea, and amnesia. He developed agammaglobulinemia following Epstein-Barr virus infection at 3-year-old, and thereafter was administered 7.5g of immunoglobulin every 3 weeks with a diagnosis of XLP. Physical examination was unremarkable on admission. Neurological examination revealed disorientation of time, and bilateral gaze-evoked nystagmus. Neuropsychological tests demonstrated impairment of recent memory and calculation. Pleocytosis (83/microl) and increase of protein (1269 mg/dl) and IgG (141 mg/dl) in the CSF were observed. Brain MRI showed multiple nodular lesions with high intense signal on T2-weighted images and Gd-DTPA enhancement on T1-weighted images. Chest CT showed multiple nodular lesions in the bilateral lungs. The needle lung biopsy was performed, which showed infiltration of lymphocytes around the vessels. An immunohistochemical study showed that the infiltrating cells were mainly CD8 positive T lymphocytes. B lymphocyte and plasma cells were not seen. The histological findings excluded intravascular malignant lymphoma and lymphomatoid granulomatosis. Therefore we diagnosed lymphoid vasculitis. The patient developed pancytopenia caused by hemophagocytic syndrome 48 days after admission and was treated with 1 g of methylprednisolone per day for 3 days and a tapered dose of steroid (500 mg to 125 mg of methylprednisolone and 60 mg to 10mg of predonisolone) for 21 days, which resulted in the improvement of clinical features (hemophagocytic syndrome and central nervous system symptoms) and the abnormal CSF findings. The multple nodular lesions in the brain and the lungs shrank 1 month after treatment and disappeared 11 months later. There are few reports concerning lymphoid vasculitis with XLP, and no effective treatment has been described. Our case suggests that steroid therapy may be useful for the treatment of lymphoid vasculitis in XLP.
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PMID:[Case of X-linked lymphoproliferative syndrome (XLP) with multiple nodular lesions in the brain]. 1676 91

A 21-year old man, complaining of headaches and fatigue, with a negative past medical history and a normal clinical examination, underwent a hormonal investigation which revealed hyper-prolactinemia and intact pituitary-gonadal axis. Drug-induced hyperprolactinemia was excluded. Pituitary magnetic resonance imaging indicated a microadenoma in the right part of the gland, with a diameter of 1.5mm. No medical treatment was given as the patient had no symptoms relevant to prolactin excess. The PEG precipitation test was carried out and showed 7% recovery, which was diagnostic of the macroprolactinemia. Relatively few cases of macroprolactinemia have been published in the literature, although the condition is regarded as a fairly common cause of hyperprolactinemia. Macroprolactinemic men represent 10% of published cases.
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PMID:Macroprolactinemia in a young man and review of the literature. 1700 13

Brain neoplasms as primary leptomeningeal forms are rare, particularly if the case in point is primary neuroectodermal tumors (PNET). In the literature, there are only few reports on this topic. The authors describe one of such rare cases. A 21-years-old man was admitted to a hospital for complaints about headache. Brain computed tomography and magnetic resonance imaging (MRI) revealed internal hydrocephalus and slightly uniform meningeal thickening without the signs of space-occupying lesions. Ten months after ventriculoperitoneostomy, the patient suddenly developed tetraparesis and respiratory disorders. MRI showed a pronounced diffuse non-uniform leptomeningeal dissemination of a tumor. Open biopsy of the lesion in the projection of the right fissure detected PNET. The patient underwent a course of chemotherapy (CCNU, vincristine) and radiotherapy (total focal dose 45 Gy). Control MRI could not identify a pathological leptomeningeal signal.
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PMID:[The leptomeningeal form of primary neuroectodermal tumor]. 1752 53

A 21-year-old man presented with a hemorrhagic pilocytic astrocytoma of the tectal plate manifesting as sudden onset of severe headache, vertigo, nausea, and vomiting. Computed tomography demonstrated acute hydrocephalus and hemorrhage within the brain stem and fourth ventricle. Magnetic resonance (MR) imaging revealed a dorsally exophytic tectal tumor as hypointense on the T(1)-weighted image and hyperintense on the T(2)-weighted image with contrast enhancement. Radical resection of the tumor was selected because of the unusual aggressive clinical course with hemorrhage and suspicion of malignant components. The tumor was totally resected via an occipital transtentorial approach using a neuronavigation system without surgical complications. The histological diagnosis was pilocytic astrocytoma. The patient was discharged home without neurological deficits on the 9th postoperative day. Twenty-three months after the surgery, follow-up MR imaging demonstrated no recurrence. Tectal plate pilocytic astrocytoma is rarely associated with hemorrhage but should be considered in the differential diagnosis of intracranial hemorrhage with acute presentation. Such exceptional tectal tumors should be resected radically and undergo histological examination to decide on further appropriate treatment.
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PMID:Total resection of a hemorrhagic tectal pilocytic astrocytoma--case report. 1752 49

Reactive thrombocytosis (secondary thrombocytosis) is frequent and typically moderate. We report a case of extreme thrombocytosis and leukocytosis secondary to an iron deficiency anemia. A 21-year-old woman is admitted in emergency department for acute headache. Biological assessment reveals a severe microcytic anaemia (5.4 g/dL) with thrombocytosis (2500 giga/L) and leukocytosis (35 giga/L) leading to multiple diagnosis hypotheses. Finally, biological evaluation concludes to a diagnosis of iron deficiency anaemia related to insufficient oral intake and menorrhagia. Reactive hyperleukocytosis and thrombocytosis rapidly resolved with iron supplementation. This case is a reminder that iron deficiency-related thrombocytosis can sometimes be severe. However, the associated reactive leukocytosis is quite exceptional.
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PMID:[Severe thrombocytosis and leukocytosis associated with iron deficiency anaemia: a case-report]. 1830 30

A 21-year-old febrile woman with sudden onset of headache and semicoma was transferred to our institute. CT and 3D-CT angiography showed subaracnoid hemorrhage and intracranial hemorrhage in the left hemisphere due to a saccular aneurysm at the occluded M2 portion of the middle cerebral artery (MCA). Her present illness started with a toothache and lumber pain 3 weeks earlier. Echocardiography revealed active infective endocarditis. We could have treated her by administering antibiotics, but during a cerebral angiography, she became comatose due to an aneurismal rerupture. Immediately, an emergency operation for aneurismal trapping was performed, but she died 19 days later because of left hemispheric swelling. We report a relatively rare case of infectious aneurysm at the proximal artery and discuss the pitfalls of its diagnosis and treatment. We should educate general physicians about infectious endocarditis because misdiagnosis or delayed diagnosis of infectious aneurysm due to endocarditis results in unpleasant outcomes. We should treat infectious aneurysm at the proximal side artery by first administering antibiotics, and if necessary, subsequent direct surgery of the aneurismal trapping should be performed with a bypass. Unnecessary invasive treatment must be avoided while the disease is in the active infectious stage.
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PMID:[Infectious aneurysm rerupture caused by delayed diagnosis: an operative case report]. 1863 6

The objective of our study is to report a rare complication of halo pin insertion associated with an epileptic seizure and brain abscess, and to discuss the diagnostic and therapeutic approach to its management. The treatment of unstable cervical spine injuries with a halo vest is an established procedure. Complications of pin penetration such as brain abscess and seizure are rare, and need to be urgently treated. Intracranial abscess and seizure associated with the use of the halo device is an unusual complication, and only a few cases have been reported in the literature. A 21-year-old male had a halo vest placed for the management of an odontoid type II fracture, which he sustained from a motor vehicle accident. Ten weeks after halo ring placement he complained of headaches which relieved by analgesics. After 2 weeks he was admitted at the emergency unit in an unconscious condition after a generalized tonic-clonic seizure. The halo pins were displaced during the seizure and were removed at his admission. No drainage was noted from the pin sites, and a Philadelphia cervical collar was applied. A brain CT and MRI revealed intracranial penetration of both posterior pins and a brain abscess in the right parietal lobe. Computed tomography of the cervical spine revealed stable fusion of the odontoid fracture. Cultures from the pin sites were negative; however, intravenous wide spectrum antibiotic treatment was administered to the patient immediately for 4 weeks followed by oral antibiotics for additional 2 weeks. Anti-epileptic medication was also started at his admission. The patient was discharged from the hospital in 6 weeks without symptoms, continuing anti-epileptic medication. On the follow-up visits he had fully recovered without any neurologic sequelae. In conclusion, complications of halo pin penetration are rare which need immediate intervention. Any neurologic or infectious, local or generalized, symptom need to be investigated urgently with available imaging techniques and treated promptly. Pin over-tightening may cause bone penetration and possible deep cranial infection with serious complications.
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PMID:Brain abscess and generalized seizure caused by halo pin intracranial penetration: case report and review of the literature. 1875 39

A 21-year-old Thai man first presented with eosinophilic meningitis. One week later he developed visual impairment of the left eye with a visual acuity of 20/600. He had a Marcus Gunn pupil, constricted visual field, prolongation of visual evoked potential and the presence of inflammatory cells in the vitreous cavity of the affected eye. On funduscopic examination there was disc swelling with hyperemia of the left eye. These ocular findings are compatible with optic neuritis. The causative agent, Angiostrongylus cantonensis, was identified in the vitreous cavity. To our knowledge this is the first case of optic neuritis caused by intraocular angiostrongyliasis. Ten days after administration of corticosteroid his severe headache was resolved, and by 4 weeks the disk swelling of the left eye subsided. Eight months after treatment the visual acuity of the left eye had not improved due to permanent damage to the retinal pigment epithelium caused by the intraocular parasite.
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PMID:Optic neuritis caused by intraocular angiostrongyliasis. 1906 88

The athletic performance supplement industry is a multibillion-dollar business and one popular category claims to increase nitric oxide (NO) production. We report three patients presenting to the emergency department with adverse effects. A 33-year-old man presented with palpitations, dizziness, vomiting, and syncope, after the use of NO(2) platinum. His examination and electrocardiogram (ECG) were normal. The dizziness persisted, requiring admission overnight. A 21-year-old man with palpitations and near syncope had used a "nitric oxide" supplement. He was tachycardic to 115 bpm with otherwise normal examination. Laboratory values including methemoglobin, and ECG were unremarkable. He was treated with 1 L of saline with no change in heart rate. He was admitted for observation. A 24-year-old man presented after taking NO-Xplode with palpitations and a headache. His examination, laboratory values, and ECG were normal. He was discharged. The purported active ingredient in these products is arginine alpha-ketoglutarate (AAKG), which is claimed to increase NO production by supplying the precursor L-arginine. The symptoms could be due to vasodilation from increased levels of NO, though other etiologies cannot be excluded. AAKG containing supplements may be associated with adverse effects requiring hospital admission.
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PMID:Adverse effects associated with arginine alpha-ketoglutarate containing supplements. 1975 57

Pheochromocytoma is a tumor that originates from the adrenal cortex and sympathetic chains. Most pheochromocytomas are sporadic, whereas others occur as hereditary syndromes. Familial pheochromocytoma has been frequently found in association with various mutations in genes of the succinate dehydrogenase family. A 21-year-old Korean male presented with recurrent chest tightness, severe headache, and hypertension. He was diagnosed as pheochromocytoma based on a 24-hour urine test, abdominal computed tomography, and (131)I-MIBG scintigraphy. Genomic DNA was extracted from the patient's whole blood. Primers covering all the coding regions and flanking introns of succinate dehydrogenase (SDH) B, C and D genes were designed and synthesized, and a DNA sequence analysis was performed using the polymerase chain reaction. Direct sequencing of the SDHB gene revealed a deletion of nucleotide 757 (thymidine) in exon 7. This thymidine deletion caused a shift in the reading frame that created a downstream stop codon and a truncated product (p.Cys253ValfsX5). Although the patient had no family history of pheochromocytoma, his father had the same mutation. We report a novel SDHB gene mutation from a Korean family with pheochromocytoma. This is the first report of pheochromocytoma with a confirmed SDHB germline mutation in Korea.
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PMID:A novel mutation of the succinate dehydrogenase B gene in a Korean family with pheochromocytoma. 2056 60


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