Alteraciones de Snc

7/31/2019 Alteraciones de Snc

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ALTERACIONES

DEFECTOS DEL CIERRE DEL

TUBO NEURALDra. Mara Dolores Gonzlez Vidal


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Cierre del tubo neural


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Summary of folate/methioninemetabolic pathways (afterJ. M.Scott, et al, Neural Tube Defects(Ciba Foundation Symposium 181),G. Bock and J. Marsh, Eds. (JohnWiley & Sons, Chichester, 1994), p.

180.), to show the site of action ofthe three anti-metabolites used inthe study to block (open arrows).Abbreviations: TS, thymidylatesynthase; DHFR, dihydrofolatereductase; MAT, methionine s-adenosyl transferase.


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Anencefalia


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Homozygous Sp2Hembryosfromlitters treated in uterowitheither folic acid or thymidine(both 10 mg/kg body weight).Extensive NTD are visibleaffecting the cranial

(arrowheads) and low spinal(arrows) regions of the PBS-treated embryo (A), whereasthe embryos treated with folicacid (B) and thymidine (C) havedeveloped normally and lackNTD. Scale bar represents 1mm
http://www.sciencemag.org/feature/data/981046/fig5-med.gif


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Exencephaly
http://www.neuropathologyweb.org/chapter11/images11/11-2bl.jpghttp://www.neuropathologyweb.org/chapter11/images11/11-2bl.jpg


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A. Normal spinal columnB. Spina bifida occultaC. MeningoceleD. Myelomeningocele

A. Spina Bifida Occulta. Spina bifida occulta is a developmental anomaly in which posterior spinalvertebrae fail to close. This anomaly usually involves one or two vertebrae at the sacral or lumbar area,although it may occur at any place along the spinal column. The spot is evident as a depression in the

skin. Often there is a tuft of hair growing at the place of the depression.

B. Meningocele. A meningocele is a pouching of the meninges and cerebrospinal fluid through a defect inthe posterior surface of the spinal vertebrae. The meningocele may be covered by a layer of skin, or itmay be denuded, with just the fibrous dura matter exposed.

C. Myelomeningocele. A myelomeningocele is a pouching of the spinal cord, the meninges andcerebrospinal fluid through a defect in the posterior spinal vertebrae. Often the spinal cord ends at thelevel of the myelomeningocele, and so there willl be no motor or sensory function below this point. Asthis is lower motor neuron damage, the child will have faccidity of the lower extremities and loss of boweland bladder control. The infant's legs are lax; the baby does not move them, and urine and stools

continually dribble because of lack of sphincter control. It is generally difficult to tell from the grossappearance of the myelomeningocele whether or not it is the simpler meningocele.


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Mielomeningocele


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Encefalocele occipital


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Microcefalia


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Natasha Popova

Chernobil


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Megacolon Aganglionar CongnitoEnfermedad de Hirsprung


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Congenital cataracts are cataractswhich are present from birth (or

appear shortly after). They may befamilial (autosomal dominantinheritance), or they may be

caused by congenital infections

such as rubella(German measles),or associated with metabolic

disorders such as galactosaemia.Risk factors include inheritedmetabolic diseases, a family

history of cataract, and maternal

viral infection.

Catarata congnita


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Catarata congnita


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Colobama


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Coloboma de Retina


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Severe Microphthalmia

Microphthalmia, anophthalmia and coloboma are related structuraleye defects that occur in 1 in 5000 births. We have recentlycompleted a study that identified all the children with MAC born in

Scotland between 1981-1996. We are using the DNA samplescollected from 84 of these children to screen for mutations in genesexpressed during eye development. We are also using apparentlybalanced chromosome rearrangements associated with MAC toidentify causative genes.


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Microftalmia


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Anoftalmia


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Anquiloblfaron

Los pliegues palpebrales quedanfusionados, puede presentarse de formaparcial o total.


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Ciclopia


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Aniridia


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Heterocromia del Iris


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Anotia/microtia


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fstula preauricular oreja recortada lbulo adherido apndice auricular

lnea en el lbulo de laoreja

hendidura en la oreja tubrculo darwiniano oreja deformada

Formas anormales de la oreja


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Alteraciones de Snc

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