Lissencephaly Type I in a Preschool Patient
Published
Feb 6, 2017
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Abstract
Lissencephaly is an alteration of developing cortical neuronal migration disorder,
causing smooth brain surface, with an incidence of 11.7 cases per million children.
If female patient, 3 years old, went to the University Teaching Hospital at 2 months of life for
refractory generalized tonic seizure type, 10 episodes in 24 hours is presented.
Keywords
agiry, epilepsy, lissencephaly, microcephalyagiria, epilepsia, lisencefalia, microcefalia
References
1. Cersósimo R. Malformaciones del desarrollo
cortical. En: Fejerman N, Fernández
Álvarez E, editores. Neurología
pediátrica. 3a ed. Buenos Aires: Editorial
Médica Panamericana; 2010. p. 271-84.
2. Watrin F, Manent J-B, Cardoso C, Represa
A. Causes and consequences of gray
matter heterotopia. CNS. 2015; 21:112-
22.
3. Alhasan M, Mathkour M, Milburn JM.
Postterm Newborn with lissencephaly
presented with seizure: case report and
review of literature. Ochsner J. 2015;
15:127-9.
4. Hernández M, Bolte L, Mesa T, Escobar
R, Mellado C, Huete I. lisencefalia y
epilepsia en pediatría. Rev Chil Pediatr.
2007;78: 615-20.
5. Curiel J, Olaya-Ordóñez M, Ortiz-Fonseca
W, Lozano-Díaz M. Trastornos de
la migración neuronal: un caso de lisencefalia.
Rev Méd Risaralda. 2014;20(2):
129-32.
6. lisencefalia Piña-Garza JE. Disorders of
cranial, volume and shape. En: Fenichel’s
clinical pediatric neurology. 7th ed.
Nashville, Tennesse: Elsevier-Saunders;
2013. p. 348-65.
7. Gahlot Sini A, Singhi P, Kumar Sahu J,
Vyas S. Lissencephaly and facial dysmorphism:
is it Miller-Dieker syndrome?
Neurol Clin Neurosci. 2013;1(5):187-8.
doi: 10.1111/ncn3.54.
8. de Wit MC, de Rijk-van Andel J, Halley
DJ, Poddighe PJ, Arts WF, de Coo IF,
Mancini GM. Long-term follow-up of
type 1 lissencephaly: survival is related
to neuroimaging abnormalities. Dev Med
Child Neurol. 2011;53(5):417-21. doi:
10.1111/j.1469-8749.2011.03937.x
9. Cohen R, Kornreich L, Konen O, Straussberg
R. Lissencephaly with gray matter
heterotopias and spinal dysraphism: A
new syndrome. Eur J Paediatr Neurol.
2015;19s:s1-s152.
10. Muñoz-González A. Neurorradiología
neonatal y malformativa. En: Pedrosa C,
editor. Neurorradiología. 3ra ed. Madrid:
Marbán; 2008. p. 67-92.
11. Sharma S, Jain P, Aneja S. EEG in lissencephaly.
IJEP. 2014;1:49-50.
12. William B. Dobyns: The clinical patterns
and molecular genetics of lissencephaly
and subcortical band heterotopia. Epilepsia.
2010;51:5-9.
13. Herbst SM, Proepper CR, Geis T, Borggraefe
I, Hahn A, Debus O, et al.
LIS1-associated classic lissencephaly:
A retrospective, multicenter survey of
the epileptogenic phenotype and response
to antiepileptic drugs. Brain Dev.
2016;38(4):399-406. http://dx.doi.org/
10.1016/j.braindev.2015.10.001.
14. Hikita N, Hattori H, Kato M, Sakuma
S, Morotomi Y, Ishida H, et al. A case
of TUBA1A mutation presenting with
lissencephaly and Hirschsprung disease. Brain Dev. 2014;36(2):159-62.
doi: 10.1016/j.braindev.2013.02
15. López Suárez O, Curros Novo C, Ansede
López A, Claro González F, Rodrigo
Sáez F, Castro-Gago M. lisencefalia tipo
I con microdeleción 17p13.3: síndrome
de Miller-Dieker. Acta Pediatr Esp.
2006;64(10):506-9.
cortical. En: Fejerman N, Fernández
Álvarez E, editores. Neurología
pediátrica. 3a ed. Buenos Aires: Editorial
Médica Panamericana; 2010. p. 271-84.
2. Watrin F, Manent J-B, Cardoso C, Represa
A. Causes and consequences of gray
matter heterotopia. CNS. 2015; 21:112-
22.
3. Alhasan M, Mathkour M, Milburn JM.
Postterm Newborn with lissencephaly
presented with seizure: case report and
review of literature. Ochsner J. 2015;
15:127-9.
4. Hernández M, Bolte L, Mesa T, Escobar
R, Mellado C, Huete I. lisencefalia y
epilepsia en pediatría. Rev Chil Pediatr.
2007;78: 615-20.
5. Curiel J, Olaya-Ordóñez M, Ortiz-Fonseca
W, Lozano-Díaz M. Trastornos de
la migración neuronal: un caso de lisencefalia.
Rev Méd Risaralda. 2014;20(2):
129-32.
6. lisencefalia Piña-Garza JE. Disorders of
cranial, volume and shape. En: Fenichel’s
clinical pediatric neurology. 7th ed.
Nashville, Tennesse: Elsevier-Saunders;
2013. p. 348-65.
7. Gahlot Sini A, Singhi P, Kumar Sahu J,
Vyas S. Lissencephaly and facial dysmorphism:
is it Miller-Dieker syndrome?
Neurol Clin Neurosci. 2013;1(5):187-8.
doi: 10.1111/ncn3.54.
8. de Wit MC, de Rijk-van Andel J, Halley
DJ, Poddighe PJ, Arts WF, de Coo IF,
Mancini GM. Long-term follow-up of
type 1 lissencephaly: survival is related
to neuroimaging abnormalities. Dev Med
Child Neurol. 2011;53(5):417-21. doi:
10.1111/j.1469-8749.2011.03937.x
9. Cohen R, Kornreich L, Konen O, Straussberg
R. Lissencephaly with gray matter
heterotopias and spinal dysraphism: A
new syndrome. Eur J Paediatr Neurol.
2015;19s:s1-s152.
10. Muñoz-González A. Neurorradiología
neonatal y malformativa. En: Pedrosa C,
editor. Neurorradiología. 3ra ed. Madrid:
Marbán; 2008. p. 67-92.
11. Sharma S, Jain P, Aneja S. EEG in lissencephaly.
IJEP. 2014;1:49-50.
12. William B. Dobyns: The clinical patterns
and molecular genetics of lissencephaly
and subcortical band heterotopia. Epilepsia.
2010;51:5-9.
13. Herbst SM, Proepper CR, Geis T, Borggraefe
I, Hahn A, Debus O, et al.
LIS1-associated classic lissencephaly:
A retrospective, multicenter survey of
the epileptogenic phenotype and response
to antiepileptic drugs. Brain Dev.
2016;38(4):399-406. http://dx.doi.org/
10.1016/j.braindev.2015.10.001.
14. Hikita N, Hattori H, Kato M, Sakuma
S, Morotomi Y, Ishida H, et al. A case
of TUBA1A mutation presenting with
lissencephaly and Hirschsprung disease. Brain Dev. 2014;36(2):159-62.
doi: 10.1016/j.braindev.2013.02
15. López Suárez O, Curros Novo C, Ansede
López A, Claro González F, Rodrigo
Sáez F, Castro-Gago M. lisencefalia tipo
I con microdeleción 17p13.3: síndrome
de Miller-Dieker. Acta Pediatr Esp.
2006;64(10):506-9.
How to Cite
Sánchez Sierra, L. E., Ramírez Izcoa, A., Varela González, D., Alvarenga, R., & Vásquez Montes, R. (2017). Lissencephaly Type I in a Preschool Patient. Universitas Medica, 57(3), 402–411. https://doi.org/10.11144/Javeriana.umed57-3.ltpp
Issue
Section
Case Reports