Leucodistrofias

LEUCODISTROFIAS

Origem da palavra
A leucodisttofia vem do somatoriovde tres vocabulos. LEUCbranco, DID - anormal e FOS-  crescimento. Trata-se portanto do desenvolmento anormal da mielina

http://en.wikipedia.org/wiki/Leukodystrophy

http://www.joejohnson.net/leukodystrophy_connections.htm

http://ulf.org/what-is-leukodystrophy

http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

http://pubs.rsna.org/doi/full/10.1148/radiographics.22.3.g02ma01461

Adrenoleucodistrofias

Directorios

http://www.x-ald.nl/

Textos

http://en.wikipedia.org/wiki/Adrenoleukodystrophy

http://rarediseases.about.com/cs/ald/a/041301.htm

http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

http://www.cmaj.ca/content/171/9/1073.full

http://www.rightdiagnosis.com/a/adrenomyeloneuropathy/intro.htm

http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm

http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

http://www.stopald.org/what-is-ald/

http://www.healthline.com/health/adrenoleukodystrophy#Description1

http://ulf.org/adrenoleukodystrophy

http://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/basics/definition/con-20028957

http://www.omim.org/entry/300100

Adrenoleucodistrofia neonatal

http://omim.org/entry/202370

Adrenomieloneuropatia

Ver adrenoleucodistrofia

Aicardi- Gouthieres

http://ulf.org/aicardi-goutieres-syndrome

http://en.wikipedia.org/wiki/Aicardi%E2%80%93Gouti%C3%A8res_syndrome

http://www.ncbi.nlm.nih.gov/books/NBK1475/

http://www.omim.org/entry/225750

http://www.brainfacts.org/diseases-disorders/diseases-a-to-z-from-ninds/aicardi-goutieres-syndrome-disorder/

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=51

http://bmb.oxfordjournals.org/content/89/1/183.full

Alexander

http://en.wikipedia.org/wiki/Alexander_disease

http://ghr.nlm.nih.gov/condition/alexander-disease

http://ulf.org/alexander-disease

http://www.rightdiagnosis.com/a/alexander_syndrome/intro.htm

http://radiopaedia.org/articles/alexander-disease

CADASIL

http://ulf.org/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infacts-and-leukoencephalopathy-cadasil

http://www.omim.org/entry/300100

http://emedicine.medscape.com/article/1423170-overview

http://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy

http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm

http://www.ncbi.nlm.nih.gov/books/NBK1500/

http://radiopaedia.org/articles/cadasil

http://www.omim.org/entry/125310

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=136

Doença de Nasu – Hakola

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2770

http://www.neurology.org/content/56/11/1552

http://www.hindawi.com/journals/crior/2012/817189/

http://www.functionalneurology.com/materiale_cic/1_XIX_3/8_nasu-hakola/article.pdf

http://www.omim.org/entry/221770

Encefalopatia aguda disseminada

http://emedicine.medscape.com/article/1147044-overview

http://en.wikipedia.org/wik/Acute_disseminated_encephalomyelitis

Hipomienização com atrofia dos gânglios basais e cerebelo

Ver Sindroma 4H

Krabbe

http://ghr.nlm.nih.gov/condition/krabbe-disease

http://www.mayoclinic.org/diseases-conditions/krabbe-disease/basics/definition/con-20029450

http://www.babysfirsttest.org/newborn-screening/conditions/krabbe

http://emedicine.medscape.com/article/951722-overview

http://ulf.org/krabbe-disease

http://www.healthline.com/health/krabbe-disease#Overview1

http://www.huntershope.org/site/PageServer?pagename=krabbe_krabbe

http://www.omim.org/entry/245200

http://www.patient.co.uk/doctor/Krabbe's-Disease.htm

Transplantes na  doença de Krabbe

http://teccir.blogspot.pt/2014/11/transplantes.html

Leucodistrofia de inicio no adulto

http://www.em-consulte.com/en/article/675549

http://brain.oxfordjournals.org/content/132/8/2161

http://www.omim.org/entry/169500

Leucodistrofia metacromatica

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy

http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy

http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm

http://emedicine.medscape.com/article/951840-overview

http://ulf.org/metachromatic-leukodystrophy-mld

http://www.omim.org/entry/250100

Leucoencefalopatia multifocal progressiva

http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy

http://www.ninds.nih.gov/disorders/pml/pml.htm

http://emedicine.medscape.com/article/1167145-overview

http://www.nlm.nih.gov/medlineplus/ency/article/000674.htm

http://www.merckmanuals.com/home/brain-spinal-cord-and-nerve-disorders/brain-infections/progressive-multifocal-leukoencephalopathy

http://radiopaedia.org/articles/progressive-multifocal-leukoencephalopathy

http://pmlconsortium.org/healthcare-professionals/what-is-pml

Leucoencefalopatia na SIDA

http://emedicine.medscape.com/article/1167145-overview

http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy

http://www.aidsmeds.com/articles/PML_6826.shtml

http://aidsinfo.nih.gov/guidelines/html/4/adult-and-adolescent-oi-prevention-and-treatment-guidelines/346/pml-jcv

http://www.ajnr.org/content/20/10/1896.full

http://eradiology.bidmc.harvard.edu/LearningLab/central/Somersan.pdf

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000100027

http://www.turner-white.com/pdf/hp_may01_initial.pdf

Mielinolise central pontina

http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm

http://emedicine.medscape.com/article/1174329-overview

http://en.wikipedia.org/wiki/Central_pontine_myelinolysis

http://emedicine.medscape.com/article/1174329-overview

http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm

Neuropatia desmielinizante paraproteinemica

http://www.pdn-info.co.uk/

http://www.eaneurology.org/fileadmin/user_upload/guidline_papers/EFNS_guideline_2011_Paraproteinaemic_demyelinating_neuropathies.pdf

http://www.guideline.gov/content.aspx?id=34913

Osteoplasia membranosa com lrucodistrofia

Ver Doença de Nasu

Pelizaeus- Merzbacher

http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm

http://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease

http://en.wikipedia.org/wiki/Pelizaeus%E2%80%93Merzbacher_disease

http://emedicine.medscape.com/article/1153103-overview

http://www.patient.co.uk/doctor/Pelizaeus-Merzbacher-Disease.htm

http://www.omim.org/entry/312080

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=PT&Expert=702

http://ulf.org/pelizaeus-merzbacher

http://radiopaedia.org/articles/pelizaeus-merzbacher-disease

Poliradiculopatia inflamatória aguda desmielinizante

http://emedicine.medscape.com/article/1169959-overview

https://www.aanem.org/Education/Patient-Resources/Disorders/Acute-Inflammatory-Demyelinating-Polyradiculopathy.aspx

http://emedicine.medscape.com/article/1169959-overview

Sindroma 4H

http://ulf.org/4h-syndrome

http://www.vumc.com/branch/Children-White-Matter-Disorders/419739/419774/5798011/

http://www.omim.org/entry/607694

http://www.neurology.org/content/82/10_Supplement/P7.327

Sindroma 18q delection

http://ghr.nlm.nih.gov/condition/18q-deletion-syndrome

http://www.omim.org/entry/601808

http://en.wikipedia.org/wiki/Distal_18q-

http://ulf.org/18q-syndrome

http://www.rarechromo.org/information/Chromosome%2018/18q%20deletions%20from%2018q21%20and%20beyond%20FTNP.pdf

Sjogren – Larsen

http://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome

http://en.wikipedia.org/wiki/Sj%C3%B6gren%E2%80%93Larsson_syndrome

http://www.omim.org/entry/270200

http://www.rarediseasesnetwork.org/stair/SLS/

http://ulf.org/sjogren-larsson-syndrome

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=816

Van der Knaap

http://www.ijri.org/article.asp?issn=0971-3026;year=2006;volume=16;issue=4;spage=733;epage=734;aulast=Rajagopal

http://en.wikipedia.org/wiki/Leukoencephalopathy_with_vanishing_white_matter

http://radiopaedia.org/cases/van-der-knaap-disease

https://www.orpha.net/data/patho/GB/uk-Megalencephalicleukodystrophy.pdf

http://ulf.org/megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc-2

http://www.ajnr.org/content/25/6/1041.full

http://www.neurology-asia.org/articles/20102_193.pdf

Xantomatose cerebrotendinosa

http://rarediseases.info.nih.gov/gard/5622/disease/resources/1

http://www.ncbi.nlm.nih.gov/books/NBK1409/

http://www.rightdiagnosis.com/medical/cerebrotendinous_xanthomatosis.htm

http://emedicine.medscape.com/article/1418820-overview

http:/hr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis

http://www.omim.org/entry/213700

http://ulf.org/cerebrtendinous-xanthomatosis-ctx

http://www.nature.com/tp/journal/v3/n9/full/tp201376a.html

Zellweger

Causa
Reduçao ou ausencis de microsomas

Hereditariedade
Autosomica 

Prevalencis
1:50.000
Sintomas´

• Migraçao nruronal diminuida
• Msu posicionamentoneuronal
• Hipomielinizaçao
• Visao e audiças diminuida´
• Anomalias ceaneofaciais
• Hepatomegalia
• Quistos renais
• Os recemnascidos podem apresentar hipotonia, dificuldade em comer, convulsoes e apneia

http://en.wikipedia.org/wiki/Zellweger_syndrome

http://ghr.nlm.nih.gov/condition/zellweger-spectrum

http://www.omim.org/entry/214100

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912

http://ulf.org/the-zellweger-spectrum