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<meta name="keywords" content="C4082172, cavity within brain, disease or syndrome, porencephalic cyst, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=906044
|
||
ConceptID=C4082172
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Porencephalic cyst</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906044</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4082172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cavity within brain; Porencephalic Cyst</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Porencephalic cyst (65705009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002132">HP:0002132</a></td></tr>
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|
||
<div class="portlet_content ln">A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4082172[DISCUI]&test_type=Clinical" ref="ncbi_uid=906044">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=906044" ref="ncbi_uid=906044">V</a></span></span><span class="TLline">Porencephalic cyst</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867394" ref="tree=MeSH" title="MedGen record for Abnormal cerebral morphology">Abnormal cerebral morphology</a></span><ul><li><span class="matched_ds">Porencephalic cyst</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_10077"><div><strong>Mohr syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10077</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10077">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120537"><div><strong>Cerebro-costo-mandibular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120537</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120537">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140807"><div><strong>Encephalocraniocutaneous lipomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140807</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0406612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140807">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98358"><div><strong>Orofacial-digital syndrome IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98358</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0406727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98358">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_307142"><div><strong>Orofaciodigital syndrome I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>307142</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1510460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe); polycystic kidney disease; brain MRI findings (intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation); and intellectual disability (in approximately 50% of affected individuals).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/307142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331296"><div><strong>Porencephaly-cerebellar hypoplasia-internal malformations syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331296</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331296">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340816"><div><strong>Spondylometaphyseal dysplasia, Sedaghatian type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340816</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340816">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382811"><div><strong>Bone fragility with contractures, arterial rupture, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382811</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411200"><div><strong>Orofaciodigital syndrome type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411200</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2745997</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411200">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482600"><div><strong>Porencephaly 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482600</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482600">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767571"><div><strong>Cobblestone lissencephaly without muscular or ocular involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767571</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767571">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647320"><div><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647320</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677948"><div><strong>Brain small vessel disease 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677948">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841145"><div><strong>Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841145</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841145">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone fragility with contractures, arterial rupture, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 1 with or without ocular anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebro-costo-mandibular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cobblestone lissencephaly without muscular or ocular involvement</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalocraniocutaneous lipomatosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mohr syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial-digital syndrome IV</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_307142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porencephaly 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331296" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porencephaly-cerebellar hypoplasia-internal malformations syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Sedaghatian type</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11798448">Long-term follow-up of children with prenatally diagnosed omphalocele and gastroschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lunzer H,
|
||
Menardi G,
|
||
Brezinka C</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Med</span>
|
||
2001 Dec;10(6):385-92.
|
||
doi: 10.1080/714052779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11798448" target="_blank">11798448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11270531">Postnatal outcome of fetuses with the prenatal diagnosis of asymmetric hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durfee SM,
|
||
Kim FM,
|
||
Benson CB</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
2001 Mar;20(3):263-8.
|
||
doi: 10.7863/jum.2001.20.3.263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11270531" target="_blank">11270531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8110712">Congenital intracranial cysts: clinical findings, diagnosis, treatment and follow-up. A multicenter, retrospective long-term evaluation of 72 children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ehrensberger J,
|
||
Gysler R,
|
||
Illi OE,
|
||
Jordi R,
|
||
Kaiser G,
|
||
Kummer M,
|
||
Rösslein R,
|
||
Weibel M</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
1993 Dec;3(6):323-34.
|
||
doi: 10.1055/s-2008-1066038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8110712" target="_blank">8110712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22porencephalic%20cyst%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28973550">Case Report: Free Latissimus Dorsi Flap in Combination With Subdural Space Reduction for the Prevention of Recurrent Hemorrhage Following Hemispherectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benson CM,
|
||
Joswig H,
|
||
Evans HB,
|
||
Steven DA</span><br />
|
||
<span class="medgenPMjournal">Oper Neurosurg (Hagerstown)</span>
|
||
2018 Jun 1;14(6):E63-E65.
|
||
doi: 10.1093/ons/opx159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28973550" target="_blank">28973550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10706026">Asymmetrical myelination of the posterior limb of the internal capsule in infants with periventricular haemorrhagic infarction: an early predictor of hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vries LS,
|
||
Groenendaal F,
|
||
van Haastert IC,
|
||
Eken P,
|
||
Rademaker KJ,
|
||
Meiners LC</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1999 Dec;30(6):314-9.
|
||
doi: 10.1055/s-2007-973511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10706026" target="_blank">10706026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9401652">Growing skull fractures: a clinical study of 41 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta SK,
|
||
Reddy NM,
|
||
Khosla VK,
|
||
Mathuriya SN,
|
||
Shama BS,
|
||
Pathak A,
|
||
Tewari MK,
|
||
Kak VK</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
1997;139(10):928-32.
|
||
doi: 10.1007/BF01411301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9401652" target="_blank">9401652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7890338">Neurosonographic abnormalities in neonates with hypoxic ischemic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anand NK,
|
||
Gupta AK,
|
||
Lamba IM</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1994 Jul;31(7):767-74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7890338" target="_blank">7890338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3964117">Chronic periodic lateralized epileptiform discharges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westmoreland BF,
|
||
Klass DW,
|
||
Sharbrough FW</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1986 May;43(5):494-6.
|
||
doi: 10.1001/archneur.1986.00520050066024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3964117" target="_blank">3964117</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Porencephalic%20cyst%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (56)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27625281">3-Hemi syndrome secondary to porencephalic cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatkar S,
|
||
Mehta S,
|
||
Goyal MK,
|
||
Modi M,
|
||
Lal V,
|
||
Khandelwal N</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2016 Sep-Oct;64(5):1093-4.
|
||
doi: 10.4103/0028-3886.190304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27625281" target="_blank">27625281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25716048">Antenatal diagnosis of intracranial haemorrhage and porencephalic cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams T,
|
||
Wilkinson AG,
|
||
Kandasamy J,
|
||
Cooper S,
|
||
Boardman JP</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2015 Feb 25;2015
|
||
doi: 10.1136/bcr-2014-209130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25716048" target="_blank">25716048</a><a href="/pmc/articles/PMC4342638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22427149">Optic disc morphology in porencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Gallagher MK,
|
||
McLoone EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2012 Sep-Oct;22(5):840-2.
|
||
doi: 10.5301/ejo.5000142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22427149" target="_blank">22427149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9472052">Antenatal diagnosis of a porencephalic cyst in congenital varicella-zoster virus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ong CL,
|
||
Daniel ML</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
1998 Feb;28(2):94.
|
||
doi: 10.1007/s002470050301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9472052" target="_blank">9472052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2614800">Porencephalic cyst in pycnodysostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Figueiredo J,
|
||
Reis A,
|
||
Vaz R,
|
||
Leáo M,
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Cruz C</span><br />
|
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<span class="medgenPMjournal">J Med Genet</span>
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1989 Dec;26(12):782-4.
|
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doi: 10.1136/jmg.26.12.782.
|
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<span class="bold">PMID: </span><a href="/pubmed/2614800" target="_blank">2614800</a><a href="/pmc/articles/PMC1015763" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Porencephalic%20cyst%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (88)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34814109">Case Report: Cerebral Phaeohyphomycosis Due to Chaetomium strumarium in a Child with Visceral Heterotaxy Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cárdenas Del Castillo B,
|
||
Bejarano JIC,
|
||
DeLaGarza-Pineda O,
|
||
Ruiz JAA,
|
||
Villanueva Lozano H,
|
||
Treviño-Rangel RJ,
|
||
González M G,
|
||
García Martínez JM</span><br />
|
||
<span class="medgenPMjournal">Am J Trop Med Hyg</span>
|
||
2021 Nov 22;106(2):574-577.
|
||
doi: 10.4269/ajtmh.21-0277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34814109" target="_blank">34814109</a><a href="/pmc/articles/PMC8832948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28973550">Case Report: Free Latissimus Dorsi Flap in Combination With Subdural Space Reduction for the Prevention of Recurrent Hemorrhage Following Hemispherectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benson CM,
|
||
Joswig H,
|
||
Evans HB,
|
||
Steven DA</span><br />
|
||
<span class="medgenPMjournal">Oper Neurosurg (Hagerstown)</span>
|
||
2018 Jun 1;14(6):E63-E65.
|
||
doi: 10.1093/ons/opx159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28973550" target="_blank">28973550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27053544">Porencephalic cyst and late onset brief psychotic disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noyan OC,
|
||
Şalçini C,
|
||
Talu BS,
|
||
Eryilmaz G</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2016 Apr 6;2016
|
||
doi: 10.1136/bcr-2016-215098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27053544" target="_blank">27053544</a><a href="/pmc/articles/PMC4840732" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22260765">Uterine perforation by a cystoperitoneal shunt, an unusual cause of recurrent vaginal discharge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poilblanc M,
|
||
Sentilhes L,
|
||
Mercier P,
|
||
Lefèbvre C,
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||
Descamps P</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
|
||
2012 Jan;34(1):63-65.
|
||
doi: 10.1016/S1701-2163(16)35135-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22260765" target="_blank">22260765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/970766">Sepsis with a new species of Corynebacterium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hande KR,
|
||
Witebsky FG,
|
||
Brown MS,
|
||
Schulman CB,
|
||
Anderson SE Jr,
|
||
Levine AS,
|
||
MacLowery JD,
|
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Chabner BA</span><br />
|
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<span class="medgenPMjournal">Ann Intern Med</span>
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1976 Oct;85(4):423-6.
|
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doi: 10.7326/0003-4819-85-4-423.
|
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<span class="bold">PMID: </span><a href="/pubmed/970766" target="_blank">970766</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Porencephalic%20cyst%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10706026">Asymmetrical myelination of the posterior limb of the internal capsule in infants with periventricular haemorrhagic infarction: an early predictor of hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vries LS,
|
||
Groenendaal F,
|
||
van Haastert IC,
|
||
Eken P,
|
||
Rademaker KJ,
|
||
Meiners LC</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1999 Dec;30(6):314-9.
|
||
doi: 10.1055/s-2007-973511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10706026" target="_blank">10706026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10325986">Glaucoma screening by optometrists: positive predictive value of visual field testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman DK,
|
||
Anwar S,
|
||
Jordan K</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
1998;12 ( Pt 6):921-4.
|
||
doi: 10.1038/eye.1998.239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10325986" target="_blank">10325986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9401652">Growing skull fractures: a clinical study of 41 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta SK,
|
||
Reddy NM,
|
||
Khosla VK,
|
||
Mathuriya SN,
|
||
Shama BS,
|
||
Pathak A,
|
||
Tewari MK,
|
||
Kak VK</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
1997;139(10):928-32.
|
||
doi: 10.1007/BF01411301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9401652" target="_blank">9401652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8938784">Traumatic aneurysm from shaken baby syndrome: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lam CH,
|
||
Montes J,
|
||
Farmer JP,
|
||
O'Gorman AM,
|
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Meagher-Villemure K</span><br />
|
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<span class="medgenPMjournal">Neurosurgery</span>
|
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1996 Dec;39(6):1252-5.
|
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doi: 10.1097/00006123-199612000-00041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8938784" target="_blank">8938784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7890338">Neurosonographic abnormalities in neonates with hypoxic ischemic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anand NK,
|
||
Gupta AK,
|
||
Lamba IM</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1994 Jul;31(7):767-74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7890338" target="_blank">7890338</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Porencephalic%20cyst%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (34)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/15136694">Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguglia U,
|
||
Gambardella A,
|
||
Breedveld GJ,
|
||
Oliveri RL,
|
||
Le Piane E,
|
||
Messina D,
|
||
Quattrone A,
|
||
Heutink P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 May 11;62(9):1613-5.
|
||
doi: 10.1212/01.wnl.0000123113.46672.68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15136694" target="_blank">15136694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10706026">Asymmetrical myelination of the posterior limb of the internal capsule in infants with periventricular haemorrhagic infarction: an early predictor of hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vries LS,
|
||
Groenendaal F,
|
||
van Haastert IC,
|
||
Eken P,
|
||
Rademaker KJ,
|
||
Meiners LC</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1999 Dec;30(6):314-9.
|
||
doi: 10.1055/s-2007-973511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10706026" target="_blank">10706026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10325986">Glaucoma screening by optometrists: positive predictive value of visual field testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman DK,
|
||
Anwar S,
|
||
Jordan K</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
1998;12 ( Pt 6):921-4.
|
||
doi: 10.1038/eye.1998.239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10325986" target="_blank">10325986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7890338">Neurosonographic abnormalities in neonates with hypoxic ischemic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anand NK,
|
||
Gupta AK,
|
||
Lamba IM</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1994 Jul;31(7):767-74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7890338" target="_blank">7890338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6977994">Evolution of porencephalic cysts from intraparenchymal hemorrhage in neonates: sonographic evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grant EG,
|
||
Kerner M,
|
||
Schellinger D,
|
||
Borts FT,
|
||
McCullough DC,
|
||
Smith Y,
|
||
Sivasubramanian KN,
|
||
Davitt MK</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
1982 Mar;138(3):467-70.
|
||
doi: 10.2214/ajr.138.3.467.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6977994" target="_blank">6977994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Porencephalic%20cyst%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4082172%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4082172%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4082172%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Porencephalic%20cyst" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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