| 词条 | Megalencephalic leukoencephalopathy with subcortical cysts |
| 释义 |
| synonyms = Vacuolating megalencephalic leukoencephalopathy with subcortical cysts | name = Megalencephalic leukoencephalopathy with subcortical cysts | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. GeneticsIt is associated with MLC1.[1][2] HistoryA series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal (1933-)in 1991.[3][4][5] However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995.[6][7][8] References1. ^{{cite journal |vauthors=Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, etal |title=Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1 |journal=Hum. Mutat. |volume=27 |issue=6 |pages=505–12 |date=June 2006 |pmid=16652334 |doi=10.1002/humu.20332}} 2. ^{{cite web |url=http://ghr.nlm.nih.gov/condition=megalencephalicleukoencephalopathywithsubcorticalcysts |title=Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference |format= |website= |accessdate=2009-03-11}} 3. ^{{cite journal|author1=Singhal, BS |author2=Gursahani, RD |author3=Udani, VP |author4=Biniwale, AA|journal=Pediatric Neurology| date=May 1996 |volume=14|issue=4|pages=291–6|doi=10.1016/0887-8994(96)00048-3|pmid=8805171|title=Megalencephalic leukodystrophy in an Asian Indian ethnic group}} 4. ^{{cite journal |last1=Batla |first1=A |last2=Pandey |first2=S |last3=Nehru |first3=R |title=Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases |journal=Journal of Pediatric Neurosciences |date=January 2011 |volume=6 |issue=1 |pages=74–7 |doi=10.4103/1817-1745.84416 |pmid=21977097 |pmc=3173924|doi-broken-date=2018-09-23 }} 5. ^ Singhal BS, Gursahani RD, Biniwale AA, Udani VP. Tokyo, Japan: In Proceedings of the 8th Asian and Oceanian Congress of Neurology; 1991. Megalencephalic leukodystrophy in India; p. 72. 6. ^{{cite journal |last1=van der Knaap |first1=Marjo S. |last2=Wevers |first2=Ron A. |last3=Kure |first3=Shigeo |last4=Gabreëls |first4=Fons J. M. |last5=Verhoeven |first5=Nanda M. |last6=van Raaij-Selten |first6=Bertie |last7=Jaeken |first7=Jaak |title=Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter |journal=Journal of Child Neurology |date=2 July 2016 |volume=14 |issue=11 |pages=728–731 |doi=10.1177/088307389901401108 |pmid=10593550}} 7. ^{{cite journal |last1=van der Knaap |first1=MS |last2=Barth |first2=PG |last3=Stroink |first3=H |last4=van Nieuwenhuizen |first4=O |last5=Arts |first5=WF |last6=Hoogenraad |first6=F |last7=Valk |first7=J |title=Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children |journal=Annals of Neurology |date=March 1995 |volume=37 |issue=3 |pages=324–34 |doi=10.1002/ana.410370308 |pmid=7695231}} 8. ^{{cite journal |last1=van der Knaap |first1=Marjo S |last2=Boor |first2=Ilja |last3=Estévez |first3=Raúl |title=Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis |journal=The Lancet Neurology |date=November 2012 |volume=11 |issue=11 |pages=973–985 |doi=10.1016/S1474-4422(12)70192-8 |pmid=23079554}} External links{{Medical resources| DiseasesDB = 33813 | ICD10 = E75.2 | ICD9 = | ICDO = | OMIM = 604004 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsNBK = NBK1535 | GeneReviewsName = Megalencephalic Leukoencephalopathy with Subcortical Cysts | Orphanet = 2478 }}
2 : Demyelinating diseases of CNS|Genetic disorders with known gene but no known gene function |
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