Disgenesia Cerebral
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Transcript of Disgenesia Cerebral
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DISGENESIA CEREBRAL
Dr. Pedro Javier Cadena Gonzalez
GENETISTA
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DISGENESIA CEREBRAL
Se conoce como disgenesia cerebral a lamalformación cortical propiamente dicha queimplica una génesis anómala del córtex cerebral
Axpe, G; perez, J; Anton, J.et al.Frecuencia y diversidad clínica actual de las disgenesias corticales cerebrales. An
Esp Pediatr 1998;48:499-504.
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Cochard, L. Netter's Atlas of Human Embryology 1e. Edit.Saunders
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Cochard, L. Netter's Atlas of Human Embryology 1e. Edit.Saunders
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Cochard, L. Netter's Atlas of Human Embryology 1e. Edit.Saunders
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Cameron R, Rakic P: Glial cell lineage in the cerebral cortex: a review and synthesis, Glia 4:124-127, 1991
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Sheen V. Walsh C. Developmental genetic malformations of the cerebral cortex.Current Neurology and Neuroscience Reports , Volume 3 (5) – Sep 1, 2003
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Heimer L. 1994. The Human Brain and Spinal Cord: Functional Neuroanatomy and Dissection Guide, 2nd ed. New York: Springer.
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Casey, B; Tottenam, N; Liston, C; et al. Aging the developing brain: what have we learned about cognitive development? . TRENDS in Cognitive Sciences Vol.9 No.3 March 2005
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CLASIFICACIÓN DE LAS MALFORMACIONES DEL DESARROLLO CORTICAL: ACTUALIZACIÓN 2012
GRUPO I: MALFORMACIONES SECUNDARIAS A ANORMALIDAD EN
LA PROLIFERACIÓN NEURONAL, GLIAL O EN LA APOPTOSIS
Microcefalia: proliferación pre-migratorio reducida, exceso de apoptosis
Megalencefalia: congénita o postnatal
Disgenesia cortical con la proliferación celular anormal, pero sin
neoplasia: esclerosis tuberosa
Displasias cortical con proliferación celular anormal y
neoplasia:ganglioglioma
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Barkovich,A.J., Guerrini,R., Kuzniecky,R.I., Jackson,G.D., Dobyns,W.B. (2012) A developmental and genetic classification for malformations of cortical development: update 2012. Brain, 135, 1348‐1369
GRUPO II: MALFORMACIONES DEBIDO A LA MIGRACIÓN NEURONAL
ANORMAL
Malformaciones con anomalías del neuroependimo: heterotopía
periventricular
Malformaciones en general de la migración anormal transmanto (radial y
no radial): lisencefalia
Malformaciones presumiblemente debido a la localización anormal en la
migración tardía radial o tangencial transmanto: heterotopia subcortical
Malformaciones debido a la migración terminal anormal y defectos en la
membrana pial limitante: displasia tipo cobblestone
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Barkovich,A.J., Guerrini,R., Kuzniecky,R.I., Jackson,G.D., Dobyns,W.B. (2012) A developmental and genetic classification for malformations of cortical development: update 2012. Brain, 135, 1348‐1369
GRUPO III MALFORMACIONES DEBIDO AL DESARROLLO
POSTMIGRATIONAL ANORMAL
Malformaciones con polimicrogiria (pmg) o malformaciones corticales que
asemejan pmg
Disgenesia cortical secundaria a errores innatos del metabolismo.
Adrenoleucodistrofia
Displasias corticales focales debido a alteraciones finales en el desarrollo .
Esporadico.
Microcefalia de desarrollo Postmigracional (microcefalia congenita) con
perímetro cefálico (PC) al nacimiento -3 ds, sin evidencia de lesión
cerebral. Sd. Angelman
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Van Der Knaap, M; Valk, J. Classification of Congenital Abnormalities of the CNS . AJNR:9, March/April 1988
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Kanekar, s; Gent, M; Malformations of cortical development. Semin ultrasound CT MRI. 32:211-227
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Aronica, E. Becker, A. Spreafico, R. Malformations of Cortical Development. Brain pathology Vol. 22(3) . May 1. 2012
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Aronica, E. Becker, A. Spreafico, R. Malformations of Cortical Development. Brain pathology Vol. 22(3) . May 1. 2012
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Guerrini, R. Parrini E. Neuronal migration disorders. Neurobiology of disease. Vol 38(2)May1, 2010
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Guerrini, R. Parrini E. Neuronal migration disorders. Neurobiology of disease. Vol 38(2)May1, 2010
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Francis, F. Meyer, G.Gundela, F. Et al. Human disorders of cortical development: from past to present . European Journal of Neuroscience. Vol23(4) Feb 1 , 2006
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Kanekar, s; Gent, M; Malformations of cortical development. Semin ultrasound CT MRI. 32:211-227
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Kanekar, s; Gent, M; Malformations of cortical development. Semin ultrasound CT MRI. 32:211-227
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Stevenson, Roger E. Human Malformations and Related Anomalies. Oxford University press
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Stevenson, Roger E. Human Malformations and Related Anomalies. Oxford University press
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Francis, F. Meyer, G.Gundela, F. Et al. Human disorders of cortical development: from past to present . European Journal of Neuroscience. Vol23(4) Feb 1 , 2006
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Carmichael, J; Woods, C. Genetic defects of human brain development. Current neurology and neuroscience reports. Vol 6(5) Jan 1, 2006
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PARALISIS CEREBRAL CRIT COAHUILA
Mujeres: 41% (121 casos)
Hombres: 59% (175 casos)
296 total casos
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175 casos en hombres
151 parálisis cerebral espástica (86.4%)
5 parálisis cerebral discinetica (2.8%)
19 parálisis cerebral flácida (10.8%)
PARALISIS CEREBRAL CRIT COAHUILA
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121 casos en mujeres
100 parálisis cerebral tipo espastica (82%)
12 parálisis cerebral tipo flácida (10%)
9 parálisis cerebral tipo discinetica (8%)
PARALISIS CEREBRAL CRIT COAHUILA
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Parálisis cerebral tipo espastica 251 casos (84.8%)
Parálisis cerebral tipo flácida 31 casos (10.4%)
Parálisis cerebral tipo discinetica 14 casos (4.8%)
296 casos de PC
PARALISIS CEREBRAL CRIT COAHUILA
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296 casos total
30 casos secundaria a disgenesia cerebral (10%)
PARALISIS CEREBRAL CRIT COAHUILA
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9 casos de atrofia corticalgeneralizada/frontoparietal
4 casos de atrofia cortical mas microcefalia
5 casos de microcefalia
1 caso de microcefalia primaria mas atrofia cortical
1 caso de microcefalia primaria mas atrofia cerebelosa
PARALISIS CEREBRAL CRIT COAHUILA
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1 caso con agenesia de cuerpo calloso
1 caso de hipoplasia de cuerpo calloso con microcefalia
1 caso de hipoplasia de cuerpo calloso con atrofia cortical
PARALISIS CEREBRAL CRIT COAHUILA
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3 casos de hidrocefalia congénita
1 caso de quiste aracnoideo
2 casos de lisencefalia
1 caso de hidranencefalia
PARALISIS CEREBRAL CRIT COAHUILA
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La atrofia cortical generalizada/ frontoparietal
representa la mayor causa de parálisis cerebral de origen disgenesico en CRIT Coahuila
PARALISIS CEREBRAL CRIT COAHUILA
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Moreno, A; Ledbetter, D; Martin, C. Genetic insights into the causes and classificatin of the cerebral palsies . Neurology
Vol 11 March 2012.
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Reyes,G; Parodi, A; Ibarra, D. Factores de riesgo en ninos con paralisis cerebral infantil en el Centro de Rehabilitacion Infantil Teleton, Estado de Mexico.Rehabilitacion (Madr) 2006;40(1):14-9