a case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele
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چکیده
how to cite this article: fadakar k, dadkhahfar s, esmaeili a, keyhanidoust z. a case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. iran j child neurol autumn 2012; 6(4):47-50. abstract schizencephaly is a rare central nervous system disorder with variable presentations. here we report a patient with a huge bilateral schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. references: yakovlev pi, wadsworth rc. schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated. j neuropathol exp neurol. 1946 jul;5(3):169-206. yakovlev pi, wadsworth rc. schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips. j neuropathol exp neurol. 1946 apr;5:116-30. brunelli s, faiella a, capra v, nigro v, simeone a,cama a et al. germline mutations in the homeobox gene emx2 in patients with severe schizencephaly. nat genet. 1996 jan;12(1):94-6. montenegro ma, guerreiro mm, lopes-cendes i,guerreiro ca, cendes f. interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development. arch neurol. 2002 jul;59(7):1147-53. granata t, freri e, caccia c, setola v, taroni f,battaglia g. schizencephaly: clinical spectrum, epilepsy, and pathogenesis. j child neurol. 2005 apr;20(4):313-8. lee hk, kim js, hwang ym, lee mj, choi cg, suh dc et al. location of the primary motor cortex in schizencephaly. ajnr am j neuroradiol. 1999 jan;20(1):163-6. de morsier g. [studies on malformation of cranio-encephalic sutures. iii. agenesis of the septum lucidum with malformation of the optic tract]. schweiz arch neurol psychiatr. 1956;77(1):267-92. hoyt wf, kaplan sl, grumbach mm, glaser js. septo-optic dysplasia and pituitary dwarfism. lancet. 1970 apr;1(7652):893-4. webb ea, dattani mt. septo-optic dysplasia. eur j hum genet. 2010 apr;18(4):393-7. ellenberger c jr, runyan te. holoprosencephaly with hypoplasia of the optic nerves, dwarfism, and agenesis of the septum pellucidum. am j ophthalmol. 1970 dec;70(6):960-7.
منابع مشابه
A Case of Schizencephaly and Septo-Optic Dysplasia Presenting with Anterior Encephalocele
Schizencephaly is a rare central nervous system disorder with variable presentations. Here we report a patient with a huge bilateral schizencephaly and septo-optic dysplasia presenting with anterior encephalocele.
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Schizencephaly is a rare malformation of the central nervous system. Both genetic and non-genetic etiologies like prenatal infections or ischemia have been postulated. Clinical manifestations most often include varying degrees of developmental delay, motor impairment and seizures. It can be associated with septo-optic dysplasia (SOD), optic nerve hypoplasia and absence of septum pellucidum, pac...
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Septo-optic dysplasia also referred to as de Morsier syndrome and is a disorder of early brain development. Three characteristic features are under development (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain (such as absence of septum pellucidum and corpus callosum dysgenesis) and pituitary hypoplasia. CASE REPORT Female, born at 40 weeks of gest...
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The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
متن کاملSepto-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
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Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystag...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۶، شماره ۴، صفحات ۴۷-۵۰
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