MECP2-related severe neonatal encephalopathy
Última actualización 21 Mar 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.
Descripción
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.
MECP2-related severe neonatal encephalopathy is the most severe condition in a spectrum of disorders with the same genetic cause. The mildest is PPM-X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related severe neonatal encephalopathy.
Patrones de herencia
The source lists the following possible inheritance patterns: X-linked. More than one pattern can apply in different cases.
Related genes
Otros nombres
Methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy
Severe congenital encephalopathy due to MECP2 mutation
Severe neonatal encephalopathy due to MECP2 mutations
Related patient information and medicines
Patient information leaflet
Bebés prematuros
There are many reasons why babies may be born early or factors which may make this more likely. However about 1 in 10 of all premature babies will have a permanent disability such as lung disease, cerebral palsy, blindness or deafness. One study of 241 children born before 26 weeks of gestation found: 1 in 5 had severe disability (for example,.
Patient information leaflet
VIH y SIDA
In addition, people with AIDS have an increased risk of de... Kaposi's sarcoma is a cancer which is usually only seen in people with AIDS. There is also an increased risk of developing cancer of the neck of the womb (cervix) and lymphoma. An AIDS-related brain illness como AIDS dementia (HIV encephalopathy). A severe body wasting syndrome. Many.
Patient information leaflet
prueba de detección en recién nacidos
Eso is not possible to screen your newborn baby for every illness or disease. However, in the UK there are certain tests and examinations offered to your baby to look for some medical conditions or health problems. This is called newborn testing, o neonatal screening. What is meant by newborn screening tests. In the UK, there is a screening.
Patient information leaflet
Síndrome de Gilbert
Síndrome de Gilbert is due to an inherited defect in processing bilirubin in the liver. Although typically harmless, there has been some evidence found recently that Gilbert's syndrome may be associated with both good and bad health outcomes: There is some evidence for protective effects against cardiovascular disorders, meta... However, Gilbert's.
Patient information leaflet
Enfermedad de Bornholm
Enfermedad de Bornholm es un illness which causes flu-like symptoms, together with pain in the chest or tummy (abdomen). It usually lasts for only a few days. Complications rarely occur. Young babies are most at risk of serious complications. Babies may need preventative treatment (immunoglobulin) to help prevent complications. What is Bornholm disease..
Patient information leaflet
Hemorragia intraventricular en bebés
An intraventricular haemorrhage is a bleed in the brain. Premature babies are particularly at risk of this condition. ... It is a type of stroke , and may be due to various causes including high blood pressure , a head injury, abnormally formed blood vessels, or brain tumours. This leaflet is specifically about intraventricular haemorrhage in.
Lecturas adicionales y referencias
- MECP2-related severe neonatal encephalopathy; MedlinePlus, National Library of Medicine.
- Bianciardi L, Fichera M, Failla P, Di Marco C, Grozeva D, Mencarelli MA, Spiga O, Mari F, Meloni I, Raymond L, Renieri A, Romano C, Ariani F. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. J Hum Genet. 2016 Feb;61(2):95-101. doi: 10.1038/jhg.2015.118. Epub 2015 Oct 22.
- Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148.
- Gonzales ML, LaSalle JM. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34. doi: 10.1007/s11920-010-0097-7.
- Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006 Jul 11;67(1):164-6. doi: 10.1212/01.wnl.0000223318.28938.45.
- Schule B, Armstrong DD, Vogel H, Oviedo A, Francke U. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Clin Genet. 2008 Aug;74(2):116-26. doi: 10.1111/j.1399-0004.2008.01005.x. Epub 2008 May 8.
- Villard L. MECP2 mutations in males. J Med Genet. 2007 Jul;44(7):417-23. doi: 10.1136/jmg.2007.049452. Epub 2007 Mar 9.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.