Tuberous Sclerosis : Case Report

DiscussionTuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Also known as Bourneville disease, named after D ésiré-Magloire Bourneville, the French physician who discovered the potato like appearance of cortical lesions in the brains of patients with this condition.Tuberous sclerosis is the second most common phakomatosis behind neurofibromatosis type 1. It has a prevalence estimated to be 1 in 6000. App roximately one third of cases of tuberous sclerosis are familial the other two thirds of cases are sporadic and due to spontaneous mutations.Classic triad first described by Heinrich Vogt in 1908 consists of facial angiofibromas, seizures, and mental retardation is present in only 30 –40% of patients. Facial angiofibromas are present 75% of the time, seizures as much as 90% of the time, and mental retardation in approximately 50% of all patients. Tuberous sclerosis is usually diagnosed in infancy or early childhood because child presents with seizures, developmental delay or h ypomelanotic macules. The diagnosis of tuberous sclerosis can be made earlier or later on the basis of other features that manifest themselves at other ages. Cortical tubers and cardiac rhabdomyomas can be detected prenatally and in infancy, whereas renal, pulmonary, and osseous lesions are identified more commonly in adulthood.Genetic diagnostic criteria- The identification of either a...
Source: Sumer's Radiology Site - Category: Radiology Authors: Source Type: blogs

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This study aimed at quantifying the impact of the first COVID-19 lockdown in France on nuclear medicine examination volume together with volume of examination cancellation and non-attendance.MethodsWe retrospectively assessed the volume of planned examinations from 1  month before to 1 month after the first lockdown in French high-volume nuclear medicine departments (NMD) sharing the same information management system including both university hospitals, UH (n = 7), and cancer centres, CC (n = 2).ResultsThe study enrolled 31,628 consecutive patients referred for a nuclear medicine examinati...
Source: European Journal of Nuclear Medicine and Molecular Imaging - Category: Nuclear Medicine Source Type: research
Conclusion: Rutheni um-106 plaque therapy in combination with intravitreal chemotherapy is an effective local therapy with good tumour control rates even in advanced eyes. Overall, the analysed therapeutic approach shows an acceptable side effect profile, especially when considering that EBRT and systemic polychemother apy, or at least the number of cycles needed, with their increased incidence of adverse events can thus be avoided.
Source: Ocular Oncology and Pathology - Category: Opthalmology Source Type: research
BRUSSELS (AP) — New findings about the coronavirus’s omicron variant made it clear Tuesday that the emerging threat slipped into countries well before their defenses were up, as two distant nations announced their first cases and a third reported its presence before South African officials sounded the alarm. The Netherlands’ RIVM health institute found omicron in samples dating from Nov. 19 and 23. The World Health Organization said South Africa first reported the variant to the U.N. health agency on Nov. 24. Meanwhile, Japan and France reported their first cases of the new variant that has forced the wor...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized COVID-19 wire Source Type: news
Condition:   Anti-MAG Neuropathy Interventions:   Drug: Rituximab infusion;   Drug: Placebo infusion;   Drug: Premedications Sponsors:   Centre Hospitalier Universitaire de Saint Etienne;   Ministry of Health, France Not yet recruiting
Source: - Category: Research Source Type: clinical trials
No abstract available
Source: The Journal of Trauma: Injury, Infection, and Critical Care - Category: Orthopaedics Tags: LETTERS TO THE EDITOR Source Type: research
No abstract available
Source: The Journal of Trauma: Injury, Infection, and Critical Care - Category: Orthopaedics Tags: LETTERS TO THE EDITOR Source Type: research
Conclusion: Our meta-analysis of available published data supports IAT to be an alternative treatment option for CRAO patients within 6 h from symptom onset.Eur Neurol
Source: European Neurology - Category: Neurology Source Type: research
CONCLUSION: PERG abnormalities can predict rim area loss in preperimetric glaucoma after controlling for disc area. We recommend controlling for disc area to increase diagnostic accuracy in early glaucoma.PMID:34845426 | PMC:PMC8627351 | DOI:10.1155/2021/8025337
Source: Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
This study included 51 eyes with a mean follow-up period of 18.94 months: 33 eyes with tractional LMH and 18 eyes with degenerative LMH. MID was not significantly different between both subtypes but MOD was significantly greater in tractional LMH than degenerative types (tractional, 1131.6 μm; degenerative, 708.9 μm; p
Source: Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
Editor: V. Dimov, M.D., Cleveland ClinicHypoglossal Nerve Palsy during Meningococcal Meningitis. NEJM, 10/2014.Absent Superficial Abdominal Reflex due to thoracic spinal cord neuromyelitis. NEJM, 05/2014.Kayser-Fleischer Rings in Wilson's Disease. NEJM, 03/2012.Perilymph Fistula Test leads to nystagmus. NEJM, 01/2012.A stray bullet in the brain - with no deficit of power, cognition, sense of touch, or speech. Lancet, 01/2012.Blindness after Fat Injections. NEJM, 12/2011.Internal-Carotid-Artery Dissection and Cranial-Nerve Palsies. NEJM, 12/2011.A Head Shot. NEJM, 12/2011.Multiple Intracranial Tuberculomas. NEJM, 10/2011.Fo...
Source: Clinical Cases and Images - Category: General Medicine Tags: Images Neurology Source Type: news
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