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Focal white matter lesions

MedGen UID:
870499
Concept ID:
C4024946
Finding
HPO: HP:0007042

Conditions with this feature

Isolated focal cortical dysplasia type II
MedGen UID:
339510
Concept ID:
C1846385
Congenital Abnormality
Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).
Cystic leukoencephalopathy without megalencephaly
MedGen UID:
416646
Concept ID:
C2751843
Disease or Syndrome
RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress). Most affected individuals have severe intellectual disability; muscle stiffness (spasticity); and a delay in developing motor skills such as sitting, crawling, and walking. Some do not learn to walk, and most do not develop the ability to speak. Other neurological features that can occur in RNAse T2-deficient leukoencephalopathy include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), seizures, involuntary writhing movements of the hands (athetosis), uncontrolled muscle tensing (dystonia), and involuntary eye movements (nystagmus). In addition to the neurological problems associated with this disorder, some affected individuals have unusual facial features sometimes described as a "doll-like face."\n\nThe neurological problems in this disorder are caused by abnormalities in the brain. People with this condition have leukoencephalopathy, an abnormality of the brain's white matter that can be detected with medical imaging. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In people with RNAse T2-deficient leukoencephalopathy, myelin is not made in sufficient amounts during development, leading to patchy white matter abnormalities (lesions) in the brain. In addition, individuals with RNAse T2-deficient leukoencephalopathy may have cysts in regions of the brain called the temporal lobes and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. The white matter lesions are primarily concentrated around the cysts and the ventricles. An abnormally small head and brain size (microcephaly) often occurs in this disorder.

Professional guidelines

PubMed

Filippi M, Rocca MA, Bastianello S, Comi G, Gallo P, Gallucci M, Ghezzi A, Marrosu MG, Minonzio G, Pantano P, Pozzilli C, Tedeschi G, Trojano M, Falini A, De Stefano N; Neuroimaging and MS Study Groups of the Italian Society of Neurology; Functional Neuroradiology Section of the Italian Association of Neuroradiology
Neurol Sci 2013 Dec;34(12):2085-93. Epub 2013 Jul 5 doi: 10.1007/s10072-013-1485-7. PMID: 23828372

Recent clinical studies

Etiology

Dadar M, Narayanan S, Arnold DL, Collins DL, Maranzano J
Mult Scler 2021 Feb;27(2):208-219. Epub 2020 Mar 23 doi: 10.1177/1352458520912172. PMID: 32202199
Nasrallah IM, Hsieh MK, Erus G, Battapady H, Dolui S, Detre JA, Launer LJ, Jacobs DR, Davatzikos C, Bryan RN
AJNR Am J Neuroradiol 2019 Aug;40(8):1291-1298. Epub 2019 Jul 25 doi: 10.3174/ajnr.A6119. PMID: 31345946Free PMC Article
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases
AJNR Am J Neuroradiol 2017 Oct;38(10):1850-1857. Epub 2017 May 11 doi: 10.3174/ajnr.A5186. PMID: 28495946Free PMC Article
Pflugrad H, Bronzlik P, Raab P, Tryc AB, Goldbecker A, Barg-Hock H, Strassburg CP, Ding XQ, Lanfermann H, Weissenborn K
Liver Int 2015 Jul;35(7):1816-23. Epub 2015 Jan 21 doi: 10.1111/liv.12771. PMID: 25546380
Kieslich M, Errázuriz G, Posselt HG, Moeller-Hartmann W, Zanella F, Boehles H
Pediatrics 2001 Aug;108(2):E21. doi: 10.1542/peds.108.2.e21. PMID: 11483831

Diagnosis

Maranzano J, Dadar M, Zhernovaia M, Arnold DL, Collins DL, Narayanan S
Neuroimage 2020 Jun;213:116690. Epub 2020 Feb 29 doi: 10.1016/j.neuroimage.2020.116690. PMID: 32119987
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases
AJNR Am J Neuroradiol 2017 Oct;38(10):1850-1857. Epub 2017 May 11 doi: 10.3174/ajnr.A5186. PMID: 28495946Free PMC Article
Pflugrad H, Bronzlik P, Raab P, Tryc AB, Goldbecker A, Barg-Hock H, Strassburg CP, Ding XQ, Lanfermann H, Weissenborn K
Liver Int 2015 Jul;35(7):1816-23. Epub 2015 Jan 21 doi: 10.1111/liv.12771. PMID: 25546380
Filley CM
Neuropsychol Rev 2010 Jun;20(2):158-73. Epub 2010 Mar 31 doi: 10.1007/s11065-010-9127-9. PMID: 20352350
Arnold DL
J Neurol Sci 2007 Aug 15;259(1-2):123-7. Epub 2007 Mar 26 doi: 10.1016/j.jns.2006.11.023. PMID: 17376485

Prognosis

Lassmann H
Front Immunol 2018;9:3116. Epub 2019 Jan 10 doi: 10.3389/fimmu.2018.03116. PMID: 30687321Free PMC Article
Filippi M, Rocca MA, Bastianello S, Comi G, Gallo P, Gallucci M, Ghezzi A, Marrosu MG, Minonzio G, Pantano P, Pozzilli C, Tedeschi G, Trojano M, Falini A, De Stefano N; Neuroimaging and MS Study Groups of the Italian Society of Neurology; Functional Neuroradiology Section of the Italian Association of Neuroradiology
Neurol Sci 2013 Dec;34(12):2085-93. Epub 2013 Jul 5 doi: 10.1007/s10072-013-1485-7. PMID: 23828372
Arnold DL
J Neurol Sci 2007 Aug 15;259(1-2):123-7. Epub 2007 Mar 26 doi: 10.1016/j.jns.2006.11.023. PMID: 17376485
Kieslich M, Errázuriz G, Posselt HG, Moeller-Hartmann W, Zanella F, Boehles H
Pediatrics 2001 Aug;108(2):E21. doi: 10.1542/peds.108.2.e21. PMID: 11483831
Soges LJ, Cacayorin ED, Petro GR, Ramachandran TS
AJNR Am J Neuroradiol 1988 May-Jun;9(3):425-9. PMID: 3132817Free PMC Article

Clinical prediction guides

Brummer T, Schillner M, Steffen F, Kneilmann F, Wasser B, Uphaus T, Zipp F, Bittner S
J Neuroinflammation 2023 Nov 13;20(1):262. doi: 10.1186/s12974-023-02947-y. PMID: 37957728Free PMC Article
Dadar M, Narayanan S, Arnold DL, Collins DL, Maranzano J
Mult Scler 2021 Feb;27(2):208-219. Epub 2020 Mar 23 doi: 10.1177/1352458520912172. PMID: 32202199
Wang CT, Barnett M, Barnett Y
Curr Opin Neurol 2019 Jun;32(3):338-345. doi: 10.1097/WCO.0000000000000698. PMID: 30950846
Pflugrad H, Bronzlik P, Raab P, Tryc AB, Goldbecker A, Barg-Hock H, Strassburg CP, Ding XQ, Lanfermann H, Weissenborn K
Liver Int 2015 Jul;35(7):1816-23. Epub 2015 Jan 21 doi: 10.1111/liv.12771. PMID: 25546380
Arnold DL
J Neurol Sci 2007 Aug 15;259(1-2):123-7. Epub 2007 Mar 26 doi: 10.1016/j.jns.2006.11.023. PMID: 17376485

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