U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Focal cortical dysplasia

MedGen UID:
853938
Concept ID:
C2938983
Congenital Abnormality
Synonyms: Cortical Dysplasia, Focal; Dysplasia, Focal Cortical; Focal Cortical Dysplasia; Focal Cortical Dysplasias
 
HPO: HP:0032046

Definition

A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. [from HPO]

Conditions with this feature

Cortical dysplasia-focal epilepsy syndrome
MedGen UID:
413258
Concept ID:
C2750246
Disease or Syndrome
Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016).
Intellectual disability, autosomal dominant 13
MedGen UID:
482832
Concept ID:
C3281202
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development. Brain imaging shows variable neuronal migration defects resulting in cortical malformations, including pachygyria. More variable features include early-onset seizures and dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Epilepsy, familial focal, with variable foci 3
MedGen UID:
934675
Concept ID:
C4310708
Disease or Syndrome
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364).
Epilepsy, familial focal, with variable foci 2
MedGen UID:
934676
Concept ID:
C4310709
Disease or Syndrome
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364).
Epilepsy, familial focal, with variable foci 1
MedGen UID:
1641798
Concept ID:
C4551983
Disease or Syndrome
DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), and infantile spasms. Although psychomotor development is usually normal, intellectual disability or autism spectrum disorder has been reported in some individuals.
Brain small vessel disease 1 with or without ocular anomalies
MedGen UID:
1647320
Concept ID:
C4551998
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.
Galloway-Mowat syndrome 8
MedGen UID:
1675829
Concept ID:
C5193045
Disease or Syndrome
Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
MedGen UID:
1748867
Concept ID:
C5399977
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
MedGen UID:
1774807
Concept ID:
C5436962
Disease or Syndrome
Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; intellectual disability mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Impaired Intellectual Development (Type B) Congenital muscular dystrophy with impaired intellectual development due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (613156), caused by mutation in the POMT2 gene (607439); MDDGB3 (613151), caused by mutation in the POMGNT1 gene (606822); MDDGB4 (613152), caused by mutation in the FKTN gene (607440); MDDGB5 (616612), caused by mutation in the FKRP gene (606596); MDDGB6 (608840), caused by mutation in the LARGE gene (603590); MDDGB14 (615351), caused by mutation in the GMPPB gene (615320); and MDDGB15 (618992), caused by mutation in the DPM3 gene (605951).
Osteoporosis, childhood- or juvenile-onset, with developmental delay
MedGen UID:
1802083
Concept ID:
C5676992
Disease or Syndrome
Childhood- or juvenile-onset osteoporosis with developmental delay (OPDD) is characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable, and includes mild intellectual or learning disabilities as well as wide-based gait and/or gross motor delays. Microcephaly is present in some patients (Marom et al., 2021).

Professional guidelines

PubMed

Guerrini R, Barba C
Expert Rev Neurother 2021 Nov;21(11):1213-1224. Epub 2021 Apr 25 doi: 10.1080/14737175.2021.1915135. PMID: 33834938
Tahta A, Turgut M
Childs Nerv Syst 2020 Dec;36(12):2939-2947. Epub 2020 Aug 6 doi: 10.1007/s00381-020-04851-9. PMID: 32766946
Cornet MC, Sands TT, Cilio MR
Semin Fetal Neonatal Med 2018 Jun;23(3):204-212. Epub 2018 Jan 31 doi: 10.1016/j.siny.2018.01.004. PMID: 29426806

Recent clinical studies

Etiology

Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A, Paglioli E, Sarnat HB, Walsh CA, Wiebe S, Aronica E, Baulac S, Coras R, Kobow K, Cross JH, Garbelli R, Holthausen H, Rössler K, Thom M, El-Osta A, Lee JH, Miyata H, Guerrini R, Piao YS, Zhou D, Blümcke I
Epilepsia 2022 Aug;63(8):1899-1919. Epub 2022 Jun 15 doi: 10.1111/epi.17301. PMID: 35706131Free PMC Article
Urbach H, Kellner E, Kremers N, Blümcke I, Demerath T
Neuroradiology 2022 Mar;64(3):443-452. Epub 2021 Nov 27 doi: 10.1007/s00234-021-02865-x. PMID: 34839379Free PMC Article
Guerrini R, Barba C
Expert Rev Neurother 2021 Nov;21(11):1213-1224. Epub 2021 Apr 25 doi: 10.1080/14737175.2021.1915135. PMID: 33834938
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S
Acta Neuropathol 2019 Dec;138(6):885-900. Epub 2019 Aug 23 doi: 10.1007/s00401-019-02061-5. PMID: 31444548Free PMC Article
Juric-Sekhar G, Hevner RF
Annu Rev Pathol 2019 Jan 24;14:293-318. doi: 10.1146/annurev-pathmechdis-012418-012927. PMID: 30677308Free PMC Article

Diagnosis

Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A, Paglioli E, Sarnat HB, Walsh CA, Wiebe S, Aronica E, Baulac S, Coras R, Kobow K, Cross JH, Garbelli R, Holthausen H, Rössler K, Thom M, El-Osta A, Lee JH, Miyata H, Guerrini R, Piao YS, Zhou D, Blümcke I
Epilepsia 2022 Aug;63(8):1899-1919. Epub 2022 Jun 15 doi: 10.1111/epi.17301. PMID: 35706131Free PMC Article
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
McGonigal A
J Neurol 2022 Jun;269(6):3363-3371. Epub 2022 Jan 10 doi: 10.1007/s00415-021-10949-0. PMID: 35006387
Guerrini R, Barba C
Expert Rev Neurother 2021 Nov;21(11):1213-1224. Epub 2021 Apr 25 doi: 10.1080/14737175.2021.1915135. PMID: 33834938
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S
Acta Neuropathol 2019 Dec;138(6):885-900. Epub 2019 Aug 23 doi: 10.1007/s00401-019-02061-5. PMID: 31444548Free PMC Article

Therapy

D'Gama AM, Poduri A
Neurotherapeutics 2021 Jul;18(3):1548-1563. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01122-6. PMID: 34608615Free PMC Article
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Cornet MC, Sands TT, Cilio MR
Semin Fetal Neonatal Med 2018 Jun;23(3):204-212. Epub 2018 Jan 31 doi: 10.1016/j.siny.2018.01.004. PMID: 29426806
Guerrini R, Duchowny M, Jayakar P, Krsek P, Kahane P, Tassi L, Melani F, Polster T, Andre VM, Cepeda C, Krueger DA, Cross JH, Spreafico R, Cosottini M, Gotman J, Chassoux F, Ryvlin P, Bartolomei F, Bernasconi A, Stefan H, Miller I, Devaux B, Najm I, Giordano F, Vonck K, Barba C, Blumcke I
Epilepsia 2015 Nov;56(11):1669-86. Epub 2015 Oct 5 doi: 10.1111/epi.13200. PMID: 26434565
Marin-Valencia I, Guerrini R, Gleeson JG
Epilepsia 2014 Jul;55(7):970-8. Epub 2014 May 23 doi: 10.1111/epi.12650. PMID: 24861491Free PMC Article

Prognosis

Hoffmann L, Blümcke I
Curr Opin Neurol 2022 Apr 1;35(2):202-207. doi: 10.1097/WCO.0000000000001030. PMID: 35067500
McGonigal A
J Neurol 2022 Jun;269(6):3363-3371. Epub 2022 Jan 10 doi: 10.1007/s00415-021-10949-0. PMID: 35006387
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Sidhu MK, Duncan JS, Sander JW
Curr Opin Neurol 2018 Aug;31(4):371-378. doi: 10.1097/WCO.0000000000000568. PMID: 29782369
Bourdillon P, Devaux B, Job-Chapron AS, Isnard J
Neurophysiol Clin 2018 Feb;48(1):59-64. Epub 2017 Dec 19 doi: 10.1016/j.neucli.2017.11.011. PMID: 29273383

Clinical prediction guides

López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D
Brain 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386Free PMC Article
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S
Acta Neuropathol 2019 Dec;138(6):885-900. Epub 2019 Aug 23 doi: 10.1007/s00401-019-02061-5. PMID: 31444548Free PMC Article
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Sidhu MK, Duncan JS, Sander JW
Curr Opin Neurol 2018 Aug;31(4):371-378. doi: 10.1097/WCO.0000000000000568. PMID: 29782369
Bourdillon P, Devaux B, Job-Chapron AS, Isnard J
Neurophysiol Clin 2018 Feb;48(1):59-64. Epub 2017 Dec 19 doi: 10.1016/j.neucli.2017.11.011. PMID: 29273383

Recent systematic reviews

Jiménez-Murillo D, Castro-Ospina AE, Duque-Muñoz L, Martínez-Vargas JD, Suárez-Revelo JX, Vélez-Arango JM, de la Iglesia-Vayá M
Sensors (Basel) 2023 Aug 10;23(16) doi: 10.3390/s23167072. PMID: 37631608Free PMC Article
Shakhatreh L, Janmohamed M, Baker AA, Willard A, Laing J, Rychkova M, Chen Z, Kwan P, O'Brien TJ, Perucca P
Neurobiol Dis 2022 Nov;174:105863. Epub 2022 Sep 19 doi: 10.1016/j.nbd.2022.105863. PMID: 36165814
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Marin-Valencia I, Guerrini R, Gleeson JG
Epilepsia 2014 Jul;55(7):970-8. Epub 2014 May 23 doi: 10.1111/epi.12650. PMID: 24861491Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...