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Labrune Syndrome



  • 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.[link.springer.com]
  • (A) CT scanning at the time of initial presentation shows calcifications in the bilateral nucleus basalis.[neuronavasms.blogspot.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.[link.springer.com]
Cerebral Calcification
  • At the age of 37 years, cerebral calcifications were detected, but she exhibited no cognitive or motor problems.[pubfacts.com]
  • The diagnostic flow chart for neuroimaging with leukoencephalopathy, cerebral calcification and cysts.[neuronavasms.blogspot.com]
  • calcifications and cysts (LCC), Labrune syndrome is a rare disease, which was first described in 1996(1).[observatorio.fm.usp.br]
  • 230 LETTERS Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome Leucoencefalopatia com cistos e calcificações cerebrais: síndrome de Labrune André Luiz Santos Pessoa 1 , Amanda do Vale Monteiro 2 , Rafael Fonseca de Queiroz 2 ,[yumpu.com]
  • Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U: Leukoencephalopathy, cerebral calcifications, and cysts. AJNR Am J Neuroradiol. 2006, 27: 200-203. PubMed Google Scholar 4.[link.springer.com]
Focal Neurologic Deficit
  • Clinical presentations are largely related to seizure or focal neurologic deficits consequent to progressive calcification or cystic expansion.[link.springer.com]
Babinski Sign
  • He had grade-4 strength in his right limbs and a positive Babinski sign on his right. The suspected diagnosis included parasitic infection, glioma and leukoencephalopathy.[link.springer.com]
  • We are looking to employ an experienced and skilled research associate to work on an exciting 2 year project.[jobs.manchester.ac.uk]
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]


  • The diagnostic workup for metabolic inborn errors of metabolism was compatible with homocystinuria and methylmalonic aciduria type cbl-C.[revistanefrologia.com]
  • Workup Laboratory studies recommended in JS include urinalysis (for hematuria, proteinuria, defective urine concentrating capacity) and arterial blood gas ( ABG ) sampling (since hypoxia and hypercarbia in room air reflect severe restrictive lung disease[emedicine.medscape.com]


  • 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, oedema and raised intracranial pressure is often required 5 .[radiopaedia.org]
  • Early detection and treatment of malignancies can improve survival.[medworm.com]
  • 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]
  • 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]


  • 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, oedema and raised intracranial pressure is often required 5 .[radiopaedia.org]
  • This, in addition to craniosynostosis, also affects mental prognosis.[link.springer.com]
  • Prognosis is guarded in infancy and childhood, and improves with age.[jpgmonline.com]
  • Prognosis The prognosis in JS depends on its expression. O'Connor MB, Gallagher DP, Mulloy E. Jeune syndrome. Postgrad Med J . 2008 Oct. 84(996):559. [Medline] . de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC.[emedicine.medscape.com]


  • Based on histopathologic findings, some authors believe that cerebral microangiopathy is the possible etiology of LCC [ 6 , 12 ].[link.springer.com]
  • 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]
  • It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death.[icd10data.com]


  • 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]
  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.de]
  • ., Issekutz, K. and Blake, K. (2005) Behavioral Profiles and Symptoms of Autism in CHARGE Syndrome: Preliminary Canadian Epidemiological Data.[scirp.org]
  • Rao Vol 50, No 2 (2018) Characteristics of Anemia in Children with HIV Infection Abstract PDF Mohammad Ghozali, Al Farizi Adhi Sunjaya, Agnes Rengga Indrati Vol 49, No 2 (2017) Cinico-Epidemiological Profile of Vitiligo Patients in Dr.[journal.fk.unpad.ac.id]
Sex distribution
Age distribution


  • 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]
  • This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome.[nature.com]


  • 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]
  • 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]
  • Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease. Eur J Pediatr. 2006;165:306-319. Dhawan A, Mitry RR, Hughes RD. Hepatocyte transplantation for liver-based metabolic disorders.[rarediseases.org]
  • 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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