Familial porencephaly
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).
Beschreibung
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).
During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Autosomal dominant porencephaly type 1
Infantile hemiplegia with porencephaly
Porencephaly type 1
Related patient information and medicines
Patient information leaflet
Pemphigus vulgaris
Pemphigus vulgaris is a rare skin condition that causes blisters. The following image shows very bad pemphigus on someone's torso: Note : several skin conditions can cause blisters and it is important to know ex... There are other types of pemphigus called: pemphigus foliaceous, pemphigus erythematosus, paraneoplastic pemphigus and benign familial.
Patient information leaflet
Hyperparathyreoidismus
Hyperparathyroidism occurs when too much parathyroid hormone is released by the parathyroid glands in the neck. ... Primary hyperparathyroidism does not usually run in families. However, in a very small number of people, it can be the result of an inherited condition called familial isolated hyperparathyroidism. Also, rarely, it may be inherited.
Patient information leaflet
Darmkrebsvorsorge
Bowel (colorectal) cancer is common. The outlook (prognosis) and chance of cure are much better if this cancer is detected at an early stage rather than at a later stage. These are rare conditions. Sie include: Familiäre adenomatöse Polyposis (FAP). Hereditary non-polyposis bowel cancer (HNPCC). If you have a disease or family history that causes.
Patient information leaflet
Bauchspeicheldrüsenkrebs
Pancreatic cancer (cancer of the pancreas) is largely a disease of older age - 47% of UK cases occur in those aged 75 or over and the most common age to be diagnosed is 85 - 89. The European Registry of Hereditary Pancreatitis und Familial Pancreatic Cancer (EUROPAC) is an organisation based in Liverpool that is involved in researching pancreatic.
Patient information leaflet
Migräne
New treatments that target CGRP have been successfully used to treat migraine. Family history Migraines are more common in people who have relatives who suffer from migraines. So, there is probably a genetic component to migraines. It's possible that there are many different genes in... There are also some very rare types of migraines that do have.
Patient information leaflet
Diabetes insipidus
Nephrogenic diabetes insipidus, which is caused by a problem in the kidney. Gestational diabetes insipidus, which occurs in pregnancy. Brain damage from lack of oxygen, which can happen if someone's heart stops (cardiac arrest). Rare inherited conditions, such as familial cranial diabetes insipidus und Wolfram syndrome. Nephrogenic diabetes.
Weiterführende Lektüre und Referenzen
- Familial porencephaly; MedlinePlus, National Library of Medicine.
- Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006 Jun;43(6):490-5. doi: 10.1136/jmg.2005.035584. Epub 2005 Aug 17.
- Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology. 2011 Mar 1;76(9):844-6. doi: 10.1212/WNL.0b013e31820e7751. No abstract available.
- Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol. 2011 Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Sept 2011 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.