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Porencephalic cyst

MedGen UID:
906044
Concept ID:
C4082172
Disease or Syndrome
Synonyms: Cavity within brain; Porencephalic Cyst
SNOMED CT: Porencephalic cyst (65705009)
 
HPO: HP:0002132

Definition

A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. [from HPO]

Conditions with this feature

Mohr syndrome
MedGen UID:
10077
Concept ID:
C0026363
Disease or Syndrome
Orofaciodigital syndrome II (OFD2), also known as Mohr syndrome, is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly. Mesomelic shortening of the limbs has also been observed (Mohr, 1941; Gorlin, 1982; Monroe et al., 2016).
Cerebro-costo-mandibular syndrome
MedGen UID:
120537
Concept ID:
C0265342
Disease or Syndrome
Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant disorder characterized by branchial arch-derivative and thoracic malformations. A key craniofacial characteristic is micrognathia, often associated with cleft palate and feeding and airway difficulties. Patients with CCMS have a narrow chest and striking posterior rib gaps which distinguish this condition (summary by Tooley et al., 2016). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.
Encephalocraniocutaneous lipomatosis
MedGen UID:
140807
Concept ID:
C0406612
Congenital Abnormality
Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum.
Orofacial-digital syndrome IV
MedGen UID:
98358
Concept ID:
C0406727
Disease or Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nOther features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.
Orofaciodigital syndrome I
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features: Oral (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia). Digital (brachydactyly, syndactyly, clinodactyly of the fifth finger; duplicated hallux [great toe]). Kidney (polycystic kidney disease). Brain (e.g., intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation). Intellectual disability (in ~50% of individuals).
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
MedGen UID:
331296
Concept ID:
C1832472
Disease or Syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.
Spondylometaphyseal dysplasia, Sedaghatian type
MedGen UID:
340816
Concept ID:
C1855229
Disease or Syndrome
Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).
Bone fragility with contractures, arterial rupture, and deafness
MedGen UID:
382811
Concept ID:
C2676285
Disease or Syndrome
BCARD syndrome is an autosomal recessive connective tissue disorder characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019).
Orofaciodigital syndrome type 6
MedGen UID:
411200
Concept ID:
C2745997
Disease or Syndrome
Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).
Porencephaly 2
MedGen UID:
482600
Concept ID:
C3280970
Disease or Syndrome
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).
Cobblestone lissencephaly without muscular or ocular involvement
MedGen UID:
767571
Concept ID:
C3554657
Disease or Syndrome
Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
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.
Brain small vessel disease 3
MedGen UID:
1677948
Concept ID:
C5193053
Disease or Syndrome
Brain small vessel disease-3 (BSVD3) is an autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration (summary by Miyatake et al., 2018). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MedGen UID:
1841145
Concept ID:
C5830509
Disease or Syndrome
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).

Professional guidelines

PubMed

Lunzer H, Menardi G, Brezinka C
J Matern Fetal Med 2001 Dec;10(6):385-92. doi: 10.1080/714052779. PMID: 11798448
Durfee SM, Kim FM, Benson CB
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Ehrensberger J, Gysler R, Illi OE, Jordi R, Kaiser G, Kummer M, Rösslein R, Weibel M
Eur J Pediatr Surg 1993 Dec;3(6):323-34. doi: 10.1055/s-2008-1066038. PMID: 8110712

Recent clinical studies

Etiology

Das Pektezel L, Tezer FI, Saygi S
J Clin Neurophysiol 2023 Mar 1;40(3):244-249. Epub 2021 Jul 6 doi: 10.1097/WNP.0000000000000880. PMID: 34280943
Jagtap SA, Kurwale N, Patil S, Bapat D, Chitnis S, Thakor B, Joshi A, Deshmukh Y, Nilegaonkar S
Epilepsy Res 2021 Oct;176:106744. Epub 2021 Aug 19 doi: 10.1016/j.eplepsyres.2021.106744. PMID: 34474240
Battersby C, Statnikov Y, Santhakumaran S, Gray D, Modi N, Costeloe K; UK Neonatal Collaborative and Medicines for Neonates Investigator Group
PLoS One 2018;13(8):e0201815. Epub 2018 Aug 16 doi: 10.1371/journal.pone.0201815. PMID: 30114277Free PMC Article
Abergel A, Lacalm A, Massoud M, Massardier J, des Portes V, Guibaud L
Fetal Diagn Ther 2017;41(3):226-233. Epub 2016 Jul 14 doi: 10.1159/000447740. PMID: 27409647
Tuzun Y, Solmaz I, Sengul G, Izci Y
Childs Nerv Syst 2010 Jan;26(1):47-51. Epub 2009 Aug 7 doi: 10.1007/s00381-009-0970-z. PMID: 19662423

Diagnosis

Das Pektezel L, Tezer FI, Saygi S
J Clin Neurophysiol 2023 Mar 1;40(3):244-249. Epub 2021 Jul 6 doi: 10.1097/WNP.0000000000000880. PMID: 34280943
Dominguez JF, Shah S, Li B, Feldstein E, Kim MG, Tobias ME
Childs Nerv Syst 2021 Sep;37(9):2917-2921. Epub 2021 Jan 13 doi: 10.1007/s00381-021-05042-w. PMID: 33442758
Bhatkar S, Mehta S, Goyal MK, Modi M, Lal V, Khandelwal N
Neurol India 2016 Sep-Oct;64(5):1093-4. doi: 10.4103/0028-3886.190304. PMID: 27625281
Williams T, Wilkinson AG, Kandasamy J, Cooper S, Boardman JP
BMJ Case Rep 2015 Feb 25;2015 doi: 10.1136/bcr-2014-209130. PMID: 25716048Free PMC Article
Ryzenman JM, Rothholtz VS, Wiet RJ
Otol Neurotol 2007 Apr;28(3):381-6. doi: 10.1097/mao.0b013e31802ead9e. PMID: 17325618

Therapy

Cárdenas Del Castillo B, Bejarano JIC, DeLaGarza-Pineda O, Ruiz JAA, Villanueva Lozano H, Treviño-Rangel RJ, González M G, García Martínez JM
Am J Trop Med Hyg 2021 Nov 22;106(2):574-577. doi: 10.4269/ajtmh.21-0277. PMID: 34814109Free PMC Article
Jagtap SA, Kurwale N, Patil S, Bapat D, Chitnis S, Thakor B, Joshi A, Deshmukh Y, Nilegaonkar S
Epilepsy Res 2021 Oct;176:106744. Epub 2021 Aug 19 doi: 10.1016/j.eplepsyres.2021.106744. PMID: 34474240
Battersby C, Statnikov Y, Santhakumaran S, Gray D, Modi N, Costeloe K; UK Neonatal Collaborative and Medicines for Neonates Investigator Group
PLoS One 2018;13(8):e0201815. Epub 2018 Aug 16 doi: 10.1371/journal.pone.0201815. PMID: 30114277Free PMC Article
Noyan OC, Şalçini C, Talu BS, Eryilmaz G
BMJ Case Rep 2016 Apr 6;2016 doi: 10.1136/bcr-2016-215098. PMID: 27053544Free PMC Article
Tuzun Y, Solmaz I, Sengul G, Izci Y
Childs Nerv Syst 2010 Jan;26(1):47-51. Epub 2009 Aug 7 doi: 10.1007/s00381-009-0970-z. PMID: 19662423

Prognosis

Puiu MG, Dionisie V, Filip AC, Manea M
Medicina (Kaunas) 2022 Apr 24;58(5) doi: 10.3390/medicina58050586. PMID: 35630003Free PMC Article
Battersby C, Statnikov Y, Santhakumaran S, Gray D, Modi N, Costeloe K; UK Neonatal Collaborative and Medicines for Neonates Investigator Group
PLoS One 2018;13(8):e0201815. Epub 2018 Aug 16 doi: 10.1371/journal.pone.0201815. PMID: 30114277Free PMC Article
Ozeki M, Funato M, Teramoto T, Ohe N, Asano T, Kaneko H, Fukao T, Kondo N
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Pediatr Neurosurg 2003 Apr;38(4):195-205. doi: 10.1159/000069099. PMID: 12646739
Yang DN, Townsend JC, Ilsen PF, Bright DC, Welton TH
J Am Optom Assoc 1997 Aug;68(8):519-26. PMID: 9279052

Clinical prediction guides

Battersby C, Statnikov Y, Santhakumaran S, Gray D, Modi N, Costeloe K; UK Neonatal Collaborative and Medicines for Neonates Investigator Group
PLoS One 2018;13(8):e0201815. Epub 2018 Aug 16 doi: 10.1371/journal.pone.0201815. PMID: 30114277Free PMC Article
Abergel A, Lacalm A, Massoud M, Massardier J, des Portes V, Guibaud L
Fetal Diagn Ther 2017;41(3):226-233. Epub 2016 Jul 14 doi: 10.1159/000447740. PMID: 27409647
Lebeer J
NeuroRehabilitation 2016 Jun 18;39(1):19-35. doi: 10.3233/NRE-161335. PMID: 27341359
Bennett-Back O, Ochi A, Widjaja E, Nambu S, Kamiya A, Go C, Chuang S, Rutka JT, Drake J, Snead OC 3rd, Otsubo H
J Neurosurg Pediatr 2014 Sep;14(3):271-8. Epub 2014 Jul 11 doi: 10.3171/2014.6.PEDS13415. PMID: 25014323
Tuzun Y, Solmaz I, Sengul G, Izci Y
Childs Nerv Syst 2010 Jan;26(1):47-51. Epub 2009 Aug 7 doi: 10.1007/s00381-009-0970-z. PMID: 19662423

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