ESQUIZENCEFALIA DE LABIO ABIERTO DIAGNOSTICADA EN EL ADULTO MAYOR

Ramiro Da Silva; Vanessa Yau Li

Submitted October 18, 2024

Published 2026-04-06

Artículos de Investigación

Vol. 20 No. 2 (2007): Revista Médico Científica

OPEN-LIP SCHIZENCEPHALY DIAGNOSED IN ELDERLY ADULT

Ramiro Da Silva⁺⁻
Vanessa Yau Li ⁺⁻

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Published: 2026-04-06

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Abstract

ABSTRACT: Schizencephaly is a disorder of neuronal migration characterized by the presence of a cerebrospinal fluid-filled cleft that extends from the ventricular surface to the pial surface of the brain.

A clinical case of a 72-year-old patient admitted with a history of motor aphasia, generalized tonic-clonic movements of the body, and left deviation of the labial commissure is presented. The clinical history of the patient, his personal history, and the complete physical exam, along with the imaging studies, provide us with enough data to make the diagnosis of open lip schizencephaly.

The objective of this presentation is to emphasize the findings of schizencephaly in a patient with advanced age, because this disease is known to be rare.

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References

Amaral JG, Yanaga RH, Geissler HJ, de Carvalho Neto A, Bruck I, Antoniuk SA. Schizencephaly: report of eleven cases. Arq Neuropsiquiatr. 2001; 59(2-A):244-97.
Chen CH, Jin Z, Wu HS, Xiao J, Zou Lp. Clinical characteristics and diagnosis of neuronal migration disorders. Zhonghua Er Ke Za Zhi. 2005; 40(4):248-51.
Curry CJ, Lammer EJ, Nelson V, Shaw GM. Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A. 2005; 137(2):181-89.
Denis D, Chateil JF, Brun M, et al. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 2000 Dec; 22(8):475-83.
Gasparetto EL, Warszawiak D, de Carvalho Neto A, Benites Filho PR, Bruck I, Antoniuk S. Septo-optic dysplasia plus: case report. Arq Neuropsiquiatr. 2003; 61(3-4):671-74.
Gleeson JG. Neuronal migration disorders. Ment Retard Dev Disabil Res Rev. 2001; 7(3):167-76.
Iannetti P, Nigro G, Spalice A, Faiella A, Boncinelli E. Cytomegalovirus infection and schizencephaly: case reports. Annals of Neurology. 1998; 43:123-127.
Lammens M. Neuronal migration disorders in man. Eur J Morphol. 2000; 38(5):327-33.
López HJF, et al. La esquizencefalia como causa de epilepsia. Rev Mex Pediatr. 2000; 67(1):28-32.
Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000; 54(8):170-73.
Packard A, Miller V, Delgado M. Schizencephaly: correlations of clinical and radiologic features. Neurology. 1997; 48:1427-34.
Pradhan M, Malla KK, Chowdhary SR, Baral MR. Case of Schizencephaly: a case report. Kathmandu Univ Med J (KUMJ). 2004; 2(3):234-37.
Saatci I, Turanli G, Renda Y. Neuronal migration disorders. Part II: Magnetic resonance imaging. Turk J Pediatr. 1998; 40(4):481-90.
Shigeaki K, Hidenori T, Kazunori N. Neuronal Migration in Cortical Development. J Child Neurol. 2005; 20(4):274-79.
Tietjen I, Bodell A, Apse K, Mendoza AM, Chang BS, Shaw GM, et al. Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet A. 2007 Jun 15; 143(12):1313-16.
Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA. EMX2-independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A. 2005; 135(2):166-70.
Wang V, Chang E, Barbaro N. Focal Cortical Dysplasia: A Review of Pathological Features, Genetics, and Surgical Outcome. Neurosurg Focus. 2006; 20(1).
Close KR, Gill L. Schizencephaly. Página web: eMedicine. Abril 2004.
Lopes CF, Cendes F, Piovesana AM, et al. Epileptic features of patients with unilateral and bilateral schizencephaly. J Child Neurol. 2006 Sep; 21(9):757-60.
Kopyta I, Jamroz E, Marszal E, Kluczewska E. Schizencephaly: clinical and radiological presentation of pediatric patients [Article in Polish]. Wiad Lek. 2006; 59(7-8):471-76.
Montenegro MA, Cendes F, Lopes-Cendes I, et al. The clinical spectrum of malformations of cortical development. Arq Neuropsiquiatr. 2007 Jun; 65(2A):196-201.
Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Schizencephaly: clinical spectrum, epilepsy, and pathogenesis. J Child Neurol. 2005; 20(4):313-18.
Sitnikov AR. Clinical case of the late diagnosis of type-II schizencephaly. Rural Remote Health. 2007 Apr-Jun; 7(2):661.
Turanli G, Yalnizolu D, Renda Y. Neuronal migration disorders. Part I: Terminology, classification, pathophysiology, EEG and epilepsy. Turk J Pediatr. 1998; 40(4):473-80.
Oshiro S, Fukushima T. Two adult cases of unilateral schizencephaly manifesting as minor neurological signs - importance of radiographic CT assessment. No To Shinkei. 2003; 55(5):431-34.
Oh KY, Kennedy AM, Frias AE, Byrne JL. Fetal schizencephaly: pre- and postnatal imaging with a review of clinical manifestations. Radiographics. 2005; 25(3):647-57.
Barkovich AJ, Norman D. MR Imaging of schizencephaly. Am J Roentgenol. 1988 Jun; 150(6):1391-96.
Carrizosa J, Cornejo W, Mejía L, Gómez JC. Esquizencefalia: un trastorno de la migración neuronal. IATREIA. Revista Médica de la Universidad de Antioquía. Septiembre 2007; 20(3).

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[1] Amaral JG, Yanaga RH, Geissler HJ, de Carvalho Neto A, Bruck I, Antoniuk SA. Schizencephaly: report of eleven cases. Arq Neuropsiquiatr. 2001; 59(2-A):244-97.

[2] Chen CH, Jin Z, Wu HS, Xiao J, Zou Lp. Clinical characteristics and diagnosis of neuronal migration disorders. Zhonghua Er Ke Za Zhi. 2005; 40(4):248-51.

[3] Curry CJ, Lammer EJ, Nelson V, Shaw GM. Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A. 2005; 137(2):181-89.

[4] Denis D, Chateil JF, Brun M, et al. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 2000 Dec; 22(8):475-83.

[5] Gasparetto EL, Warszawiak D, de Carvalho Neto A, Benites Filho PR, Bruck I, Antoniuk S. Septo-optic dysplasia plus: case report. Arq Neuropsiquiatr. 2003; 61(3-4):671-74.

[6] Gleeson JG. Neuronal migration disorders. Ment Retard Dev Disabil Res Rev. 2001; 7(3):167-76.

[7] Iannetti P, Nigro G, Spalice A, Faiella A, Boncinelli E. Cytomegalovirus infection and schizencephaly: case reports. Annals of Neurology. 1998; 43:123-127.

[8] Lammens M. Neuronal migration disorders in man. Eur J Morphol. 2000; 38(5):327-33.

[9] López HJF, et al. La esquizencefalia como causa de epilepsia. Rev Mex Pediatr. 2000; 67(1):28-32.

[10] Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000; 54(8):170-73.

[11] Packard A, Miller V, Delgado M. Schizencephaly: correlations of clinical and radiologic features. Neurology. 1997; 48:1427-34.

[12] Pradhan M, Malla KK, Chowdhary SR, Baral MR. Case of Schizencephaly: a case report. Kathmandu Univ Med J (KUMJ). 2004; 2(3):234-37.

[13] Saatci I, Turanli G, Renda Y. Neuronal migration disorders. Part II: Magnetic resonance imaging. Turk J Pediatr. 1998; 40(4):481-90.

[14] Shigeaki K, Hidenori T, Kazunori N. Neuronal Migration in Cortical Development. J Child Neurol. 2005; 20(4):274-79.

[15] Tietjen I, Bodell A, Apse K, Mendoza AM, Chang BS, Shaw GM, et al. Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet A. 2007 Jun 15; 143(12):1313-16.

[16] Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA. EMX2-independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A. 2005; 135(2):166-70.

[17] Wang V, Chang E, Barbaro N. Focal Cortical Dysplasia: A Review of Pathological Features, Genetics, and Surgical Outcome. Neurosurg Focus. 2006; 20(1).

[18] Close KR, Gill L. Schizencephaly. Página web: eMedicine. Abril 2004.

[19] Lopes CF, Cendes F, Piovesana AM, et al. Epileptic features of patients with unilateral and bilateral schizencephaly. J Child Neurol. 2006 Sep; 21(9):757-60.

[20] Kopyta I, Jamroz E, Marszal E, Kluczewska E. Schizencephaly: clinical and radiological presentation of pediatric patients [Article in Polish]. Wiad Lek. 2006; 59(7-8):471-76.

[21] Montenegro MA, Cendes F, Lopes-Cendes I, et al. The clinical spectrum of malformations of cortical development. Arq Neuropsiquiatr. 2007 Jun; 65(2A):196-201.

[22] Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Schizencephaly: clinical spectrum, epilepsy, and pathogenesis. J Child Neurol. 2005; 20(4):313-18.

[23] Sitnikov AR. Clinical case of the late diagnosis of type-II schizencephaly. Rural Remote Health. 2007 Apr-Jun; 7(2):661.

[24] Turanli G, Yalnizolu D, Renda Y. Neuronal migration disorders. Part I: Terminology, classification, pathophysiology, EEG and epilepsy. Turk J Pediatr. 1998; 40(4):473-80.

[25] Oshiro S, Fukushima T. Two adult cases of unilateral schizencephaly manifesting as minor neurological signs - importance of radiographic CT assessment. No To Shinkei. 2003; 55(5):431-34.

[26] Oh KY, Kennedy AM, Frias AE, Byrne JL. Fetal schizencephaly: pre- and postnatal imaging with a review of clinical manifestations. Radiographics. 2005; 25(3):647-57.

[27] Barkovich AJ, Norman D. MR Imaging of schizencephaly. Am J Roentgenol. 1988 Jun; 150(6):1391-96.

[28] Carrizosa J, Cornejo W, Mejía L, Gómez JC. Esquizencefalia: un trastorno de la migración neuronal. IATREIA. Revista Médica de la Universidad de Antioquía. Septiembre 2007; 20(3).

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