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Labrune Syndrome

LCC


Presentation

  • Adult-onset leukoencephalopathies with increased cerebral volume can present a potentially challenging diagnosis for the pathologist.[pubfacts.com]
  • Case presentation A previously healthy 19-year-old Chinese man presented with weakness of his right limbs that rapidly worsened over a short interval.[jmedicalcasereports.biomedcentral.com]
  • A modest predilection for females appears to be present (F:M 3:2) 5 . Leukoencephalopathy with calcifications and cysts can present with a variety of symptoms depending on cyst location and degree of intracranial hypertension.[radiopaedia.org]
Pathologist
  • Adult-onset leukoencephalopathies with increased cerebral volume can present a potentially challenging diagnosis for the pathologist.[pubfacts.com]
Blurred Vision
  • At the same time, he developed fever (highest temperature, 39.5 C), blurred vision in his left eye and a mild episodic headache lasting for several minutes on each occasion. No nausea or vomiting occurred.[jmedicalcasereports.biomedcentral.com]
Dry Eyes
Lacrimation
  • Neurology - February 8, 2017 Category: Neurology Authors: Leena Pahuja Elisheba Patras Sachin Sureshbabu Nittin Parkhe Laxmi Khanna Source Type: research Related Links: Authors: Best AL, Labetoulle M, Legrand M, M'garrech M, Barreau E, Rousseau A Abstract Lacrimal[medworm.com]
Episodic Headache
  • At the same time, he developed fever (highest temperature, 39.5 C), blurred vision in his left eye and a mild episodic headache lasting for several minutes on each occasion. No nausea or vomiting occurred.[jmedicalcasereports.biomedcentral.com]
Cerebral Calcification
  • At the age of 37 years, cerebral calcifications were detected, but she exhibited no cognitive or motor problems.[pubfacts.com]
  • Leukoencephalopathy, cerebral calcifications and cysts: new observations. Neurology 2004;62:1206-1209. [ Links ] 3. Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U. Leukoencephalopathy, cerebral calcifications, and cysts.[scielo.br]
  • […] right capsuloganglionic region, left thalamus and bilateral dentate nuclei In view of the above classical triad of findings (LCC- leukoencephalopathy with cerebral calcifications and cysts), differentials considered were (a) Labrune syndrome and (b)[radiopaedia.org]
  • calcifications and cysts (LCC), Labrune syndrome is a rare disease, which was first described in 1996(1).[observatorio.fm.usp.br]
  • View Article PubMed Google Scholar Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U: Leukoencephalopathy, cerebral calcifications, and cysts. AJNR Am J Neuroradiol. 2006, 27: 200-203.[jmedicalcasereports.biomedcentral.com]
Focal Neurologic Deficit
Morning Headache
  • A 55-year-old woman with a history of morning headaches, mild memory loss, diabetes, and hypertension presented to the emergency department with acute onset altered mental status.[pubfacts.com]

Workup

  • The diagnostic workup for metabolic inborn errors of metabolism was compatible with homocystinuria and methylmalonic aciduria type cbl-C.[revistanefrologia.com]

Treatment

  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]
  • Treatment and prognosis Disease progression is variable in the cases reported in the literature. To date, no specific treatment is available although medical management of epilepsy, edema and raised intracranial pressure is often required 5 .[radiopaedia.org]
  • No known treatment is available as of yet. Something to do with the small veins in the brain calcifying and this growth starts. Any information would be helpful.[redpowermagazine.com]
  • There indications have increasingly broadened, and they are now one of the treatment options for numerous ocular surface diseases. Current research focuses...[medworm.com]
  • Chiropractic for Runner’s Knee Runner’s knee, or PFPS, responds very well to chiropractic treatment. The chiropractor is able to do a complete exam and find the cause of the problem, then tailor the treatment accordingly.[drjonesmccaw.com]

Prognosis

  • Treatment and prognosis Disease progression is variable in the cases reported in the literature. To date, no specific treatment is available although medical management of epilepsy, edema and raised intracranial pressure is often required 5 .[radiopaedia.org]
  • This, in addition to craniosynostosis, also affects mental prognosis.[link.springer.com]

Etiology

  • Based on histopathologic findings, some authors believe that cerebral microangiopathy is the possible etiology of LCC [ 6, 12 ].[jmedicalcasereports.biomedcentral.com]
  • Based on histopathologic findings, some authors believe that cerebral microangiopathy is the possible etiology of LCC [ 6 , 12 ].[link.springer.com]
  • In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles.[scielo.br]
  • The etiology is unknown; in some cases it is difficult to differentiate from Coats plus syndrome and diagnosed as cerebroretinal microangiopathy with calcifications and cysts.[pubfacts.com]

Epidemiology

  • Savage is at the Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.[nature.com]
  • ., Issekutz, K. and Blake, K. (2005) Behavioral Profiles and Symptoms of Autism in CHARGE Syndrome: Preliminary Canadian Epidemiological Data.[scirp.org]
Sex distribution
Age distribution

Pathophysiology

  • The underlying pathophysiology is thought to be a diffuse cerebral microangiopathy resulting in initially microcystic, followed by macrocystic, parenchymal degeneration 1 .[radiopaedia.org]
  • Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.[childnervoussystem.blogspot.com]
  • Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed.[books.google.de]

Prevention

  • With early and effective prevention of respiratory complications and early treatment of craniosynostosis, the overall prognosis can be favorable.[link.springer.com]
  • Therapies include intrauterine platelet transfusion to prevent fetal hemorrhage in labor; a planned atraumatic delivery or termination of pregnancy in the second trimester may be contemplated (5). MacDonald MR, Schaefer GB, Olney AH et.al.[fetalultrasound.com]
  • As affected individuals age, the body mass increases and the skin thickens, making phototherapy less effective for preventing kernicterus.[rarediseases.org]
  • Getting a good pair of running shoes is also recommended so that future injury can be prevented. Chiropractic for Runner’s Knee Runner’s knee, or PFPS, responds very well to chiropractic treatment.[drjonesmccaw.com]
  • Antiaggregating and calcium-antagonist drugs seem effective in preventing further vascular accidents, while a surgical approach is not possible.[dial.uclouvain.be]

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