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Porencephaly 2(BSVD2)

MedGen UID:
482600
Concept ID:
C3280970
Disease or Syndrome
Synonyms: BRAIN SMALL VESSEL DISEASE 2; BSVD2
 
Gene (location): COL4A2 (13q34)
 
Monarch Initiative: MONDO:0013773
OMIM®: 614483

Definition

Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780). [from OMIM]

Clinical features

From HPO
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Hemorrhage occurring within the skull.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Hemiplegia
MedGen UID:
9196
Concept ID:
C0018991
Sign or Symptom
Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Schizencephaly
MedGen UID:
78606
Concept ID:
C0266484
Congenital Abnormality
Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100).
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Focal-onset seizure
MedGen UID:
199670
Concept ID:
C0751495
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Subcortical heterotopia
MedGen UID:
766245
Concept ID:
C3553331
Finding
A form of heterotopia were the mislocalized gray matter is located deep within the white matter.
Porencephalic cyst
MedGen UID:
906044
Concept ID:
C4082172
Disease or Syndrome
A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.

Professional guidelines

PubMed

Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T
Hum Mol Genet 2014 Jan 15;23(2):283-92. Epub 2013 Sep 2 doi: 10.1093/hmg/ddt418. PMID: 24001601Free PMC Article
Benacerraf BR, Shipp TD, Bromley B, Levine D
J Ultrasound Med 2007 Nov;26(11):1513-22. doi: 10.7863/jum.2007.26.11.1513. PMID: 17957045Free PMC Article
Cox WL, Forestier F, Capella-Pavlovsky M, Daffos F
Fetal Ther 1987;2(2):101-8. PMID: 3332737

Recent clinical studies

Etiology

George E, Vassar R, Mogga A, Li Y, Norton ME, Gano D, Glenn OA
Pediatr Neurol 2023 Oct;147:63-67. Epub 2023 Jul 18 doi: 10.1016/j.pediatrneurol.2023.07.008. PMID: 37562171
Gaines JJ, Gilbert BC, Gossage JR, Parker W, Reddy A, Forseen SE
AJNR Am J Neuroradiol 2022 Nov;43(11):1603-1607. Epub 2022 Oct 20 doi: 10.3174/ajnr.A7677. PMID: 36265891Free PMC Article
Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, Guerrini R, Leventer RJ, Dobyns WB
Am J Med Genet A 2021 Sep;185(9):2690-2718. Epub 2020 Nov 18 doi: 10.1002/ajmg.a.61972. PMID: 33205886Free PMC Article
Volpon Santos M, Teixeira TL, Ioriatti ES, Thome U, Paula de Andrade Hamad A, Machado HR
Neurosurg Focus 2020 Apr 1;48(4):E5. doi: 10.3171/2020.1.FOCUS19944. PMID: 32234979
Debus O, Koch HG, Kurlemann G, Sträter R, Vielhaber H, Weber P, Nowak-Göttl U
Arch Dis Child Fetal Neonatal Ed 1998 Mar;78(2):F121-4. doi: 10.1136/fn.78.2.f121. PMID: 9577282Free PMC Article

Diagnosis

Bhatia A, Thia EWH, Bhatia A, Ruochen D, Yeo GSH
J Matern Fetal Neonatal Med 2022 Dec;35(23):4612-4619. Epub 2020 Dec 8 doi: 10.1080/14767058.2020.1857358. PMID: 33292033
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N
J Med Genet 2021 Aug;58(8):505-513. Epub 2020 Jul 30 doi: 10.1136/jmedgenet-2020-106896. PMID: 32732225
Moretti R, Caruso P
Int J Mol Sci 2020 Sep 5;21(18) doi: 10.3390/ijms21186506. PMID: 32899565Free PMC Article
Hino-Fukuyo N, Togashi N, Takahashi R, Saito J, Inui T, Endo W, Sato R, Okubo Y, Saitsu H, Haginoya K
Pediatr Neurol 2016 Jan;54:39-42.e1. Epub 2015 Aug 28 doi: 10.1016/j.pediatrneurol.2015.08.016. PMID: 26545857
Debus O, Koch HG, Kurlemann G, Sträter R, Vielhaber H, Weber P, Nowak-Göttl U
Arch Dis Child Fetal Neonatal Ed 1998 Mar;78(2):F121-4. doi: 10.1136/fn.78.2.f121. PMID: 9577282Free PMC Article

Therapy

Moretti R, Caruso P
Int J Mol Sci 2020 Sep 5;21(18) doi: 10.3390/ijms21186506. PMID: 32899565Free PMC Article
Volpon Santos M, Teixeira TL, Ioriatti ES, Thome U, Paula de Andrade Hamad A, Machado HR
Neurosurg Focus 2020 Apr 1;48(4):E5. doi: 10.3171/2020.1.FOCUS19944. PMID: 32234979
Wang SB, Weng WC, Fan PC, Lee WT
Pediatr Neurol 2008 Aug;39(2):85-90. doi: 10.1016/j.pediatrneurol.2008.04.007. PMID: 18639750
Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E, Yoshinaga H, Sato M
Epilepsia 1993 Jul-Aug;34(4):716-22. doi: 10.1111/j.1528-1157.1993.tb00451.x. PMID: 8330583
Lorber J
Dev Med Child Neurol 1968 Apr;10(2):233-4. doi: 10.1111/j.1469-8749.1968.tb02873.x. PMID: 5301286

Prognosis

Bhatia A, Thia EWH, Bhatia A, Ruochen D, Yeo GSH
J Matern Fetal Neonatal Med 2022 Dec;35(23):4612-4619. Epub 2020 Dec 8 doi: 10.1080/14767058.2020.1857358. PMID: 33292033
Volpon Santos M, Teixeira TL, Ioriatti ES, Thome U, Paula de Andrade Hamad A, Machado HR
Neurosurg Focus 2020 Apr 1;48(4):E5. doi: 10.3171/2020.1.FOCUS19944. PMID: 32234979
Wang S, Weil AG, Ibrahim GM, Fallah A, Korman B, Ragheb J, Bhatia S, Duchowny M
Epileptic Disord 2020 Feb 1;22(1):39-54. doi: 10.1684/epd.2020.1129. PMID: 32043470
Sananès N, Gabriele V, Weingertner AS, Ruano R, Sanz-Cortes M, Gaudineau A, Langer B, Nisand I, Akladios CY, Favre R
Prenat Diagn 2016 Dec;36(12):1139-1145. Epub 2016 Nov 15 doi: 10.1002/pd.4950. PMID: 27764900
Hino-Fukuyo N, Togashi N, Takahashi R, Saito J, Inui T, Endo W, Sato R, Okubo Y, Saitsu H, Haginoya K
Pediatr Neurol 2016 Jan;54:39-42.e1. Epub 2015 Aug 28 doi: 10.1016/j.pediatrneurol.2015.08.016. PMID: 26545857

Clinical prediction guides

Bhatia A, Thia EWH, Bhatia A, Ruochen D, Yeo GSH
J Matern Fetal Neonatal Med 2022 Dec;35(23):4612-4619. Epub 2020 Dec 8 doi: 10.1080/14767058.2020.1857358. PMID: 33292033
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N
J Med Genet 2021 Aug;58(8):505-513. Epub 2020 Jul 30 doi: 10.1136/jmedgenet-2020-106896. PMID: 32732225
Moretti R, Caruso P
Int J Mol Sci 2020 Sep 5;21(18) doi: 10.3390/ijms21186506. PMID: 32899565Free PMC Article
Ogiwara H, Uematsu K, Morota N
J Neurosurg Pediatr 2014 Sep;14(3):230-3. Epub 2014 Jul 4 doi: 10.3171/2014.6.PEDS1438. PMID: 24995821
Humphreys P, Whiting S, Pham B
Can J Neurol Sci 2000 Aug;27(3):210-9. PMID: 10975533

Recent systematic reviews

Lanfranconi S, Markus HS
Stroke 2010 Aug;41(8):e513-8. Epub 2010 Jun 17 doi: 10.1161/STROKEAHA.110.581918. PMID: 20558831

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