Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The risk for bilateral tumors and long-term outcome after conservative cortical-sparing adrenal surgery was studied in a consecutive single-center series. One hundred fifty-four patients were operated on (1950-2004) for pheochromocytoma (PC=137), or abdominal paraganglioma (PG=17). Twenty had MEN 2 (16 MEN 2A; 4 MEN 2B), 15 von Recklinghausen's disease (VRD), and 1 von Hippel-Lindau (VHL) disease. Twelve patients had, or developed, bilateral adrenal medullary tumors; four with MEN 2A, four with MEN 2B, three with VRD, and one with probably hereditary PC associated with brain tumors/meningioma. Two patients with MEN 2B and one with MEN 2A with had bilateral adrenalectomy (adx). Three VRD patients, two MEN 2B and one MEN 2A patients had cortical-sparing surgery. Two patients were operated on unilaterally, but developed small contralateral tumors; one of these (MEN 2A) had a second asymptomatic PC diagnosed at an older age, so surgery was withheld; the other patient (hereditary PC syndrome) had a small contralateral PC diagnosed at autopsy 9 years later. Only three of nine patients with bilateral operations needed corticosteroid replacement after surgery. Four of six patients died of associated tumors (MTC and meningioma). The mean follow-up was 13 (1-25) years. Twelve MEN 2A patients with unilateral adx have been followed up for 20 (4-36) years without developing a second PC. Cortical-sparing adrenal surgery can safely be performed in the majority of patients with bilateral PC. On the basis of our long-term experience of MEN 2A we perform contralateral adrenal resection only if a second PC is confirmed. Five patients underwent adrenal exploration because of clinical and biochemical findings compatible with PC. Four had asymmetrical positive MIBG scans. They all underwent unilateral adx and diffuse medullary hyperplasia was confirmed (medullary weight estimated morphometrically to 1.0-3.4 g vs. normal weight 0.3-0.5 g in matched controls). These patients have been followed for 19 (5-27) years with normal clinical and biochemical findings. In this rare condition removal of the largest adrenal seems adequate.
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PMID:Treatment of bilateral pheochromocytoma and adrenal medullary hyperplasia. 1710 11

Sporadic endolymphatic sac tumor is a very rare neoplasm. It is low malignant, locally destructive and expansive, but non-metastasizing. The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss for several months. Audiometry showed an asymmetrical sensory neural hearing loss on the left side up to 60 dB. The speech discrimination score was 46% and stapedial reflexes were absent. Several years earlier, he had suffered from periods of dizziness. Magnetic resonance imaging (MRI) showed a destructive and locally invasive tumor in the peripheral vestibular system expanding into the cerebellopontine angle. Paraganglioma and von Hippel-Lindau`s disease were excluded. Vestibular examination showed no function of vestibular organ left side. The tumor was resected radically by translabyrintine approach. Per-operative freeze-microscopy showed inflammation tissue, whereas subsequent microscopy showed papillary-cystic endolymphatic sac tumor. Endolymphatic sac tumor is a rare neoplasm. The tumor may present with asymmetrically sensory neural hearing loss with or without tinnitus, dizziness and facial nerve paresis. An MRI scan is the appropriate diagnostic tool final dianosis is made by the post-operative histo-pathology. Dizziness can be the first sign of a tumor in this area.
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PMID:Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness. 2871 65

This case report aims to describe the diagnosis, treatment, and evolution of bilateral, asymmetrical retinal capillary hemangioblastomas treated with argon laser and intravitreal anti-vascular endothelial growth factor and also reports the results of an online survey of treatment preferences among retina and vitreous specialists. A previously healthy 23-year-old female presented to our Retina Department complaining of progressive visual loss in her right eye. Visual acuity at admission was 20/300 in her right eye and 20/20 in her left eye. Anterior segment findings were unremarkable and fundoscopy revealed the presence of retinal capillary hemangioblastomas in both eyes. In the right eye, the hemangioblastoma was associated with pronounced exudation and macular edema; in the left eye, the lesion was quiescent. After a complete anamnesis and genetic counseling, Von Hippel-Lindau disease was diagnosed. Treatment with laser photocoagulation was performed on both eyes. One dose of 0.5 mg intravitreal ranibizumab was applied to the right eye. Two months after treatment, the right eye demonstrated improved visual acuity (20/100). Moreover, an important decrease in tumor dimensions and a reduction of vessel tortuosity was seen in both eyes. At 18 months of follow-up, the patient maintains a good visual acuity without recurrence of the treated tumors. Laser treatment should be considered as the primary treatment option for patients with capillary hemangioblastomas with and without exudation and can be combined with intravitreal antiangiogenics if exudation is significant. Inactive smaller lesions without exudation are likely to have an excellent response to laser treatment alone. Management should be individualized since no consensus between experts has been reached.
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PMID:Treatment of Capillary Hemangioblastoma in Von Hippel-Lindau Disease: Case Report and Online Survey of Treatment Preferences among Experts. 3200 36