CASE REPORT: The patient, a 10-month-old girl, presented with gross motor delay at 4 months of age and convulsions at 7 months of age. [ncbi.nlm.nih.gov]

We present a case of porencephaly who presented with altered sensorium and myesthenia gravis to highlight the point that although rare at present, its incidence may increase in future. [jihs.in]

• Asymptomatic

  The maternal grandfather harboring the mutation is asymptomatic. The c.3110G>A mutation occurred de novo. [ncbi.nlm.nih.gov]

  Patients with porencephalic cysts range from asymptomatic, to profoundly impaired. Often signs and symptoms become evident in the first year of life, with spasticity and seizures being common early manifestations. [radiopaedia.org]

• Pallor

  Optic disc pallor, either absent or unrecognized in the earlier cases, has been noted recently with increasing frequency. Both of the cases presented had pallor of the discs and the characteristic "double ring" sign. [healio.com]

  She had pallor but there was no icterus, clubbing, cyanosis, edema or lymphadenopathy. Hair and skin appeared to be normal. No scar marks were present. [jihs.in]

• Short Stature

  stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia Schütz et al. 2008 Implication of complex vertebral malformation and bovine leukocyte adhesion deficiency DNA-based testing on disease frequency in the Holstein population [patents.google.com]

• Developmental Disorder

  9 38 Ronco P...Plaisier E 19238787 2008 21 COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 9 38 Vahedi K...Bousser MG 17379824 2007 22 The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental [malacards.org]

• Malingering

  Pilu G, Malinger G, Buyukkurt S: Porencephaly. Visual Encyclopedia of Ultrasound in Obstetrics and Gynecology, www.isuog.org, (July 2011). 18. Breedveld G, De Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. [jihs.in]

• Rhinorrhea

  Successful closure of recurrent traumatic CSF rhinorrhea using the free rectus abdominis muscle flap. Surgical neurology. 2000 Mar 31;53(3):275-80. 17. Pilu G, Malinger G, Buyukkurt S: Porencephaly. [jihs.in]

• Muscle Spasticity

  Proteins 0.000 description 1 241001465754 Metazoa Species 0.000 description 1 206010027926 Monoplegia Diseases 0.000 description 1 210000002200 Mouth Mucosa Anatomy 0.000 description 1 241000699660 Mus musculus Species 0.000 description 1 208000008238 Muscle [patents.google.com]

• Fear

  Patient's affect was subjectively anxious and fearful but objectively her affect was blunted and she did not display any insight into her condition. She had psychomotor retardation and her speech was slow. She was not suicidal. [bmcpsychiatry.biomedcentral.com]

• Poor or Absent Speech

  Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening of the muscles), and cognitive impairment. [ninds.nih.gov]

  Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation. An extreme form of porencephaly is called hydranencephaly. [medicinenet.com]

• Confusion

  Loose usage of the term has caused confusion as to its meaning. Some authors classify porencephaly into two types. [radiologykey.com]

  The terminology regarding porencephaly used in the medical literature has caused confusion. Some researchers break down porencephaly into type I (also known as encephaloclastic porencephaly) and porencephaly type II (also known as schizencephaly). [rarediseases.org]

  Hypoplasia of the optic nerve is a congenital anomaly that, although once considered rare, is being recognized with increasing frequency.1-4 Recent reviews of the literature have pointed out the variability of this entity and the considerable confusion [healio.com]

Peripartum Cardiomyopathy Medline Plus: Peripartum cardiomyopathy eMedicine: Cardiomyopathy, peripartum eMJA: Transient apical ballooning of the left ventricle Transient Left Ventricular Apical Ballooning Cardiomyopathy, Takotsubo: Differential Diagnoses & Workup [catsclem.nl]

Management and treatment No specific treatment is available for porencephaly. Treatment is therefore symptomatic and supportive and may include physical therapy, speech therapy, and anticonvulsant medication to treat seizures. [orpha.net]

Treatment Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain. × Treatment Treatment may include physical therapy, medication for seizures, and the placement of [ninds.nih.gov]

Treatment for Megalencephaly Treatment is symptomatic. Prognosis for Infants with Megalencephaly Prognosis varies according to the severity of associated disorders. Prognosis for those afflicted with unilateral megalencephaly is poor. [healthcommunities.com]

Prognosis for Infants with Megalencephaly Prognosis varies according to the severity of associated disorders. Prognosis for those afflicted with unilateral megalencephaly is poor. [healthcommunities.com]

Prognosis generally depends on the extent of the lesion. [ncbi.nlm.nih.gov]

Prognosis The prognosis for children with porencephaly varies according to the location and extent of the cysts or cavities. [ninds.nih.gov]

Prognosis Prognosis is variable and depends on the site and extent of the lesion. The documents contained in this web site are presented for information purposes only. [orpha.net]

Possible etiology of porencephaly includes intracerebral thrombosis, intracranial hemorrhage and fetal infection. We report the first antenatal diagnosis of porencephaly, which apparently resulted from maternal carbon monoxide poisoning. [ncbi.nlm.nih.gov]

Encephaloclastic porencephaly: cerebral cavities that results from tissue breakdown of various etiologies (cerebral ischemia, trauma etc.). References Schmidt MJ, Klulpp S, Amort K, Jawinski S, Kramer M. [vetmeet.com]

Summary Epidemiology Point prevalence of acquired and genetic forms is unknown. However, birth prevalence of porencephaly is estimated at 1/19,000 in Japan and 1/28,500 in the USA. [orpha.net]

Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. Birth Defects Res Part A Clin Mol Teratol. 2008 ;82(6): 435 – 440. [Crossref], [Google Scholar] ]. [tandfonline.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]

In this article, the author reviews the clinical features and the pathogenetic aspects of porencephaly and provides an update on the pathophysiology of this disorder. [medlink.com]

The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders. View research on this topic. View studies being conducted about this condition. [brainfacts.org]

The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders. [web.archive.org]

Healthy Baby Resource Close Birth Defect Prevention Categories Video Expecting Parents can watch this video for an introduction to the Healthy Baby Resource which provides tips to help reduce the risk of birth defects. [birthdefects.org]

The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent porecephaly and the other cephalic disorders. Information from the National Library of Medicine’s MedlinePlus Brain Diseases [ninds.nih.gov]