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Familial Porencephaly



  • Patients with closed-lip schizencephaly typically present with hemiparesis and/or motor delay whereas patients with open-lip schizencephaly usually present with hydrocephalus and/or seizures.[pediatricneurosciences.com]
  • Polymicrogyria was present inside 23 clefts (43%), while subependymal heterotopias were present at the cleft orifice in 27 clefts (50%).[link.springer.com]
  • Increased tone known as spasticity or low-tone (hypontonia) may be present as well. While the above characteristics may be present in some patients, other patients may present with only seizures.[physio-pedia.com]
  • Here, we present a rare case of left, unilateral, open lip schizencephaly in an adult patient presenting with partial seizures but with an asymptomatic childhood.[jfmpc.com]
  • She presented at birth with growth retardation and microcephaly, and on the 3rd day of life she developed seizures.[cags.org.ae]
Feeding Difficulties
  • She presented with severe psychomotor retardation, inability to speak, severe feeding difficulties, contractures of the large joints, and left-sided spasticity. She was found to have no metabolic or infectious disorders, and had a normal karyotype.[cags.org.ae]
  • Behavior and performance: Feeding difficulty. Heredity: The syndrome is familial and is transmitted as an autosomal recessive trait.[bridges4kids.org]
  • During this period, any insult of vessels in the region of germinal matrix may cause hypoxemia and infarction with arrest of migration of these neuroblasts. [3] , [4] Other factors such as infection, metabolic disorders, and genetic defects also play[pediatricneurosciences.com]
  • Collapsed defect in the left hemisphere. Reproduced with the permission of the Department of Radiology of Akron Children's Hospital . Closed schizencephaly Schizencephaly. A cleft in the right hemisphere. Image provided by Dr Maie Herrick .[neuropathology-web.org]
Respiratory Disorders
  • The primary diagnoses of the clients were listed as Cerebral palsy, Multiple sclerosis, Rhett syndrome, Developmental delay, Spinal muscular atrophy, Mitochondrial respiratory disorder, Tay-Sachs disease, Pelizaeus-Merzbacher disease, Spastic quadriplegia[medical-dictionary.thefreedictionary.com]
Cranial Nerve Involvement
  • Signs and symptoms were as follows: developmental delay and motor problems (unilateral or bilateral) in almost all patients, with differing degrees of severity; cranial nerve involvement, especially cranial nerve VI (bilateral in several cases), and focal[elsevier.es]
Spastic Quadriplegia
  • The primary diagnoses of the clients were listed as Cerebral palsy, Multiple sclerosis, Rhett syndrome, Developmental delay, Spinal muscular atrophy, Mitochondrial respiratory disorder, Tay-Sachs disease, Pelizaeus-Merzbacher disease, Spastic quadriplegia[medical-dictionary.thefreedictionary.com]
Neurologic Manifestation
  • Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. Radiology 1992;182:493-9. [Figure 1] , [Figure 2] , [Figure 3][npmj.org]


  • Treatment for Schizencephaly Individuals with schizencephaly may benefit from physical therapy and treatment to control seizures. Cases involving hydrocephalus may call for implantation of a shunt.[healthcommunities.com]
  • Treatment - Schizencephaly Treatment for individuals with schizencephaly generally consists of physical therapy, treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt. Resources - Schizencephaly Not supplied.[checkorphan.org]
  • If epileptic symptoms are present, treatment for seizures is given.[allhealthsite.com]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]


  • Prognosis for Infants with Hydranencephaly Prognosis is poor. Most infants die within their first year. Schizencephaly Schizencephaly is a form of porencephaly in which the brain's hemispheres are marked by abnormal slits or clefts.[healthcommunities.com]
  • Prognosis The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities.[brainfacts.org]
  • Prognosis - Schizencephaly The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the degree of neurological deficit.[checkorphan.org]


  • The etiology of the disease is not well understood, but genetic and nongenetic etiologies have been postulated [ 5 ]. The role of genetics remains controversial, namely the gene EMX-2 [ 6 ] and COL4A1 mutations [ 7 ].[karger.com]
  • Etiology/Causes As previously mentioned, the cause of schizencephaly is unknown. In fact, multiple causes have been proposed.[physio-pedia.com]
  • Schizencephaly: Heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A 2005;137:187-9. [ PUBMED ] 4. Prasad M, Iype M, Nair PM. Callosal agenesis and open lip schizencephaly.[pediatricneurosciences.com]
  • Etiology perinatal cerebral ischemia trauma infection antenatal intraparenchymal hemorrhage 4 familial porencephaly: mutations in the COL4A1 gene (a COL4A1-related disorder ) leading to fragile blood vessels causing antenatal/perinatal hemorrhagic strokes[radiopaedia.org]
  • Its overall incidence is unknown, etiology must be multi-factorial and some series suggest that there is a risk that a patient with Porencephaly has at 2-4 per cent chance of having a child with a neural tube defect.[bridges4kids.org]


  • […] fibromatosis Synonym(s): (no synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Indeed, epidemiologic findings indicate that exogenous causes interfering with pregnancy have to be considered in addition to genetic defects.[medlink.com]
  • Porencephaly Epidemiology Porencephaly is a very rare condition and although the exact rate of prevalence of this cerebral disorder is not known, studies indicate that around 6.8% patients having cerebral palsy and/or 68% patients having epilepsy with[hxbenefit.com]
  • Epidemiology of Schizencephaly In a study, around 71 patients with schizencephaly diagnosed through MRI were considered by 2 radiologists.[epainassist.com]
  • Epidemiology and clinical spectrum of schizencephaly in south-eastern Hungary. J Child Neurol. 2010;25:1335-1339. Sato Y, et al. Radiographic manifestations of anomalies of the brain. Radiol Clin N Am. 1991;29:179-193. Barkovich JA and Norman D.[rroij.com]
Sex distribution
Age distribution


  • Additional information is included concerning the pathophysiology and pathology of the disorders being discussed as well as basic information concerning the causative genes (when appropriate).[books.google.com]
  • Alternate names include epithelial cyst, ependymal cyst, choroid cyst, choroidal-epithelial cyst, and glioependymal cyst. 1 Pathophysiology Initially, neuroepithelial cysts were thought to arise by evagination and sequestration of ependyma or choroidal[radiologykey.com]


  • Treatment Treatment generally consists of physical therapy and drugs to prevent seizures.[brainfacts.org]
  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ Pagina 332 - Crane JP, LeFevre ML, Winborn RC, et al.[books.google.it]
  • Prevention - Schizencephaly Not supplied. Diagnosis - Schizencephaly Diagnosis is made by imaging of the brain. A computed tomography scan (CT) or MRI demonstrates the abnormal clefts, which may be bilateral or unilateral, open or closed lip.[checkorphan.org]

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