Esquizencefalia de diagnóstico prenatal: reporte de caso

La esquizencefalia es una malformación cerebral congénita del grupo de trastornos de migración neuronal, tiene una prevalencia de 1,54/100 000 nacidos vivos, por lo cual, se considera extremadamente rara. El objetivo de este artículo es presentar un caso de esquizencefalia fetal de labio abierto, el subtipo de peor pronóstico, cuya sospecha diagnóstica se realiza con ecografía prenatal y se confirma mediante la resonancia magnética fetal. Actualmente, en Colombia no se cuenta con este tipo de reporte de casos.

Schizencephaly is a congenital brain malformation, which is part of the group of neuronal migration disorders, which has a prevalence of 1,54/100 000 in live births, which is why it is considered extremely rare in Colombia. The objective of this article is to present a case of open-lip fetal schizencephaly, the subtype with the worst prognosis, whose suspected diagnosis is made with prenatal ultrasound and confirmed by fetal magnetic resonance imaging. Currently, this type of report is not available in Colombia.

Reporte de un caso atípico de esquizencefalia de labio abierto / Report of an atypical case of open lip schizencephaly

RESUMEN Fundamento: la esquizencefalia de labio abierto, es una malformación del grupo de los trastornos de migración cerebral, la cual se considera como una enfermedad poco común en todo el mundo y cursa con lesiones estructurales graves, dentro de las manifestaciones clínicas más comunes se encuentran las crisis epilépticas de difícil manejo, las alteraciones en el desarrollo del lenguaje, los defectos visuales y la microcefalia. Objetivo: presentar un caso poco común de malformación cerebral, diagnosticada como consecuencia de una complicación aguda, donde se encontraron otras características atípicas neurológicas, psicológicas y oftalmológicas. Presentación del caso: mujer de 19 años, con antecedentes prenatales de una malformación congénita del sistema nervioso central que presentaba una hemiparesia espástica desde el nacimiento, pero sin convulsiones ni retraso mental. Fue admitida en servicio de urgencia por signos de hipertensión intracraneal agudos, durante su estancia se realizó tomografía axial computarizada que mostró una esquizencefalia de labio abierto. Fue operada y luego de su recuperación se realizaron exámenes neuropsicológicos y oftalmológicos que mostraron características inusuales en la paciente. Conclusiones: la presencia de un defecto motor desde el nacimiento necesita de una evaluación imagenológica para estimación estructural de las posibles malformaciones existentes, que permitirá anticiparnos a la aparición de otros síntomas o de complicaciones. La estimulación neuropsicológica precoz activará los mecanismos de plasticidad cerebral con mejora de la calidad de vida.

ABSTRACT Background: open-lip schizencephaly is a cerebral malformation of the group of cerebral migration disorders, which is considered a rare disease worldwide and has serious structural lesions, and within the most common clinical manifestations find epileptic seizures that are difficult to manage, alterations in language development, visual defects and microcephaly. Objective: to present an unusual case of brain malformation, diagnosed as a consequence of an acute complication, where other atypical neurological, psychological and ophthalmological features were found. Clinical case: 19 years old woman; with a prenatal history of a congenital malformation of the central nervous system due to a spastic hemiparesis from birth, but without seizures or mental retardation. She was admitted to the emergency department for signs of acute intracranial hypertension, and during her stay, computed tomography was performed, which showed an open lip schizencephaly. She underwent surgery and after her recovery, neuropsychological and ophthalmological exams were performed which showed unusual characteristics in the patient. Conclusions: the presence of a motor defect from birth requires an imaging evaluation for structural estimation of the possible existing malformations, which will allow us to anticipate the appearance of other symptoms or complications. The early neuropsychological stimulation will activate the mechanisms of cerebral plasticity with improvement of the quality of life.

Diagnóstico prenatal de esquizencefalia. Reporte de caso y revisión de la literatura / Prenatal diagnosis of schizencephaly. Case report and literature review

RESUMEN La esquizencefalia es una patología de etiología desconocida que se caracteriza ecográficamente por presentar hendiduras que comunican el espacio subaracnoideo con los ventrículos laterales. Desde la primera publicación en 1941, se describe dos tipos: la esquizencefalia tipo I (labio cerrado), en la cual los bordes de la hendidura (labios) entran en contacto; y la esquizencefalia tipo II (labio abierto), cuyos bordes (labios) están ampliamente separados por líquido cefalorraquídeo, que es de peor pronóstico y la única diagnosticable antenatalmente. Se presenta el caso de diagnóstico prenatal de un feto con hallazgos ultrasonográficos de esquizencefalia tipo 2.

ABSTRACT Schizencephaly is a pathology of unknown etiology characterized by clefts that communicate the subarachnoidal space with the lateral ventricles. Two types have been described since the first paper published in 1941: Type I schizencephaly (closedlip), where the edges of the cleft (lips) come into contact; Type II schizencephaly (openlip) presents cleft edges (lips) that are widely open and filled by cephalo-spinal fluid. The latter has a worse prognosis and may be diagnosed antenatally. We present the case of a fetus with prenatal ultrasonographic findings of Type 2 schizencephaly.

A Rare Case of an Infant with Left Hemiparesis: A Case Report of Bilateral Open-lip Schizencephaly

@#Schizencephaly is a very rare congenital birth defect. It is characterized by a cortical brain malformation that manifests as a grey-matter-lined cleft extending from the ependyma to the pia mater. It is a rare condition, and few cases have been reported in the literature. The exact cause is unknown. Herein, we report a case of an infant presenting with left side hemiparesis. The CT scan of her brain revealed right fronto-temporal and left parieto-temporal open-lip schizencephaly; thus, urgent referral to a pediatric neurologist was made for early intervention.

Hemiplegia Hemiconvusion Hemiatrophy Syndrome-A Case Report

Neuronal migration disorder is a rare cause of seizure, weakness and developmental delay 1. Individuals with smaller, unilateral clefts may be paralyzed on one side of the body 2. Outcome and presentation of schizencephaly are variable, but it typically presents with seizures ,hemiparesis,and developmental delay. Here we report a case of open lip schizencephaly presenting as Hemiplegia Hemiconvusion Hemiatrophy Syndrome.

Integridad cognitiva y motora-sensorial en un niño con esquizencefalia de labio abierto unilateral derecho: reporte de caso / Cognitive and motor-sensorial integrity in a child with schizencephaly unilateral open lip: case report

RESUMEN La esquizencefalia es una malformación poco común del sistema nervioso central, caracterizada por la presencia de hendiduras encefálicas que se extienden desde la superficie pial hasta los ventrículos laterales. Habitualmente se asocia a otras comorbilidades, como parálisis cerebral infantil y crisis convulsivas, que afectan de manera significativa la calidad de vida, el desenvolvimiento social y la adaptación ambiental de los pacientes. Es una entidad cuyo tratamiento es sintomático, por lo cual el abordaje se enfoca en el control de las convulsiones y en la rehabilitación, la cual minimiza el retraso neuro-psicológico que pueden presentar estos pacientes. Se reporta el caso de un paciente pediátrico con esquizencefalia de labio abierto (el subtipo clínico que cursa con peor pronóstico) con una evolución clínica favorable, libre de crisis convulsivas y sin necesidad de farmacoterapia. Actualmente, después de haber realizado un proceso de rehabilitación adaptada y temprana, presenta un déficit neurológico mínimo, con un desarrollo motor y psicológico completo, y un desenvolvimiento social satisfactorio.

SUMMARY Schizencephaly is an uncommon malformation of the central nervous system, characterized by the presence of encephalic clefts that extend from the pial surface to the lateral ventricles. It is usually associated with other comorbidities, such as infantile cerebral palsy and seizures, which significantly affect the quality of life, social development and environmental adaptation of patients. It is an entity whose treatment is symptomatic, for which the approach focuses on the control of seizures and rehabilitation, which minimizes the neuro psychological delay that these patients may present. We report the case of a pediatric patient with open lip schizencephaly (the clinical subtype with the worst prognosis) with a favorable clinical course, free of seizures and without the need for pharmacotherapy. Currently, after having carried out an adapted and early rehabilitation process, it presents a minimal neurological deficit, with a complete motor and psychological development, and a satisfactory social development.

Clinical, imaging features and follow-up study of schizencephaly in 35 children / 中华实用儿科临床杂志

Objective To summarize the correlation between clinical manifestations and imaging characteristics of schizencephaly in order to provide a basis for the diagnosis and prognosis.Methods Thirty-five outpatients with schizencephaly diagnosed at Department of Pediatric Neurology of Henan Provincial People's Hospital from January 2009 to May 2015 were retrospectively selected,and they were divided into different groups (patients with unilateral lesions or bilateral lesions) according to their cranial magnetic resonance imaging (MRI) features.The clinical manifestations were compared between different groups.Results Of 35 patients,19 (54.3％) patients were male and 16 (45.7％) patients were female.Twenty-four patients were found with unilateral lesions (68.6％),including 16 cases (66.7％) with hemiparesis and 8 cases(33.3％) with no motor impairment.Mental retardation was observed in 8 patients (33.3％) and 6 patients (25.0％) showed speech impairment.Eleven patients were found the bilateral lesions (31.4％),including 5 patients (45.4％) with tetraparesis,4 patients (36.4％) with hemiparesis,and 2 paticnts (18.2％) with no motor impairment.Mental retardation was observed in 9 patients (81.8％) and 9 patients (81.8％) showed speech impairment.There were significant differences in motor impairment,mental retardation and speech impairment between the unilateral lesion group and bilateral lesion group (Z =-2.40,P =0.002;x2 =7.09,P =0.012;x2 =9.94;P =0.003).Epileptic seizure occurred in 18 patients (51.4％).Binary Logistic regression analysis indicated that cortical dysplasia beyond the cleft and open-lip lesions were the major risk factors for seizures (OR =4.44,2.73;P =0.005,0.029).Imaging characteristics:there were closed-lip lesions in 10 patients (28.6％),open-lip lesions in 21 patients (60.0％) and open/closed-lip lesions in 4 patients (11.4％).Anatomic localization of all clefts was found in the frontal lobes in 19 patients (54.3％),in frontoparietal lobes in 11 patients (31.4％),in parietal lobes in 2 patients (5.7％),and in occipital lobes in 3 patients (8.6％).After 1-6-year follow-up,12 patients treated with antiepileptic drug were seizure-free (all with unilateral lesions),and 6 patients had refractory epilepsy (3 patients with bilateral lesions).Conclusions Schizencephaly is a rare structural disorder of cerebral cortical development.Those with bilateral lesions are usually manifested with severe motor,speech impairment and mental retardation and their prognosis is poor.Schizencephaly patients complicated with cortical dysplasia beyond the cleft or open-lip lesions are more easily attacked by seizures.MRI plays an important role in the diagnosis and prognosis judgment of schizencephaly.

Esquizencefalia de labio cerrado bilateral: a propósito de un caso / Schizencephaly of bilateral closed lip: speaking of one case

La esquizencefalia es un desorden de la migración neuronal, caracterizada por hendiduras de sustancia gris en los hemisferios cerebrales que se extienden desde la superficie pial a los ventrículos laterales. Esta patología es el resultado final de una amplia variedad de factores genéticos, tóxicos, metabólicos y de agentes infecciosos que ocurren durante un período crítico del desarrollo cerebral. Esta malformación puede ser unilateral o bilateral y puede ser dividida en dos subtipos: de ¨labios cerredos" o tipo I, o de "Labios abierto" o tipo II. Presentamos el caso de una paciente demenina de 37 años de edad con epilepsia y hallazgos neurorradiológicos de esquizencefalia de "labios cerrados" bilateral

Schizencephaly is a rare developmental of neuronal migration, characterized by congenital clefts spanning the cerebral hemisphere from the pial surface to the lateral ventricle and lined by cortical gray matter. The lesion is the final result of a variety of etiologies including genetic, toxic, metabolic and infectious agents during a critical period of the development of the brain. This malformation can be unilateral or bilateral and may be divided in two subtypes: "closed tips" or type I and "open tips" or type II. We present 37 years old female patient with epilepsy and neuroradiological findings of bilateral "closed lips" schizencephaly

Effect of Constraint-induced Movement Therapy on Bilateral Perisylvian Schizencephaly: A Case Report / 中国康复理论与实践

@#A 22-year-old woman with bilateral perisylvian schizencephaly was reported. She presented only mild right hemiplegia. The motor function improved after constraint-induced movement therapy.

Potenciales evocados en dos casos deesquizencefalia de borde abierto / Evoked potentials in two cases of open-lip schizencephaly

La esquizencefalia es una malformación cerebral producida por un trastorno en la migración neuronal. Se caracteriza por una hendidura que compromete todo el espesor del palio, desde la superficie pial hasta el sistema ventricular. Cuando los bordes de corteza alrededor de la hendidura están en contacto la esquizencefalia es de labio cerrado, pero cuando los bordes están separados la lesión se denomina de labio abierto. Las manifestaciones clínicas más frecuentes son: retraso psicomotor, déficit motor y epilepsia. Se presentan dos pacientes con esquizencefalia de labio abierto, uno unilateral y otro bilateral, a los que se les realizaron estudios de potenciales evocados auditivos, visuales, cognitivos y somatosensoriales. Estos estudios permitieron obtener correlaciones clínicas e imagenológicas. Cada caso presentó un patrón específico en los potenciales evocados somatosensoriales, los que pueden confirmar la sospecha de malformaciones hemisféricas. Por el contrario, los potenciales evocados cognitivos, visuales y auditivos son inespecíficos a para diferenciar los tipos de esquizencefalia.

Schizencephaly is a brain malformation caused by an abnormality of neuronal migration. It is characterized by a cleft spanning the pallium from the pial surface to the ventricular system that is lined by cortical gray matter. If the edges of the cortex around the cleft are in contact with each other, the lesion is named closed-lip schizencephaly; when the cleft borders are not in contact, the lesion is termed open-lip schizencephaly and the cleft is filled with cerebrospinal fluid. The most frequent clinical manifestations of the disease are psychomotor delay, motor impairmentand epilepsy. This is a report of two cases of patients with diagnosis of open-lip schizencephaly, the first oneunilateral and the second one bilateral . Various studies of evoked potentials (ERP) by different sensory modalitieswere done, correlations between clinical data, ERP and brain images were obtained too. Each case presented one specific pattern in the somatosensory evoked potentials that can be used to suspect haemispheric malformations. Auditory and visual evoked potencials were not useful to discriminate between different types of schizencephaly.

Clinical manifestations and neuroimaging findings of schizencephaly in children / 소아과

PURPOSE: Schizencephaly is a uncommon congenital brain anomaly characterized by congenital clefts spanning the cerebral hemispheres from pial surface to lateral ventricles and lined by gray matter. In this study, we investigated the clinical manifestation and radiologic findings of pediatric schizencephaly. METHODS: The data of 13 patients who were diagnosed with schizencephaly in Severance Childrens Hospital and Yongdong Severance Hospital from January 2005 to December 2007 were analyzed retrospectively. RESULTS: The mean age at diagnosis was 9.08+/-2.67 months old and ranged from 1 to 30 months. The ratio of male to female patients was 3.33:1. Five (38.5%) patients had bilateral clefts, while 8 (61.5%) had unilateral clefts. Five (38.5%) patients had closed lip clefts, and 4 (30.8%) had opened lip clefts. Four (30.8%) patients had multiple clefts. Associated anomalies showed in all cases. The clinical features consisted of mild unilateral weakness in 7 (53.8%) cases and a hemiparesis was present in 3 (23.1%) patients. A tetraparesis was in 3 (23.1%) patients. There was no difference in motor deficit between unilateral and bilateral clefts. Delayed development was observed in all cases. Epilepsy was present in 7 (53.8%) patients, 5 patients with unilateral clefts and 2 patients with bilateral clefts. Three (42.8%) patients showed intractable seizures. CONCLUSION: Schizencephaly showed variable clinical manifestations and radiologic findings in association with the types and locations of the clefts. It is necessary to diagnose schizencephaly early and to detect the development of epilepsy. Intensive and large studies of the correlation of clinical outcomes and radiologic findings should be continued for more effective treatment.

Lesiones pseudo quísticas cerebrales: diagnóstico diferencial prenatal de esquizencefalia-porencefalia / Pseudo cystic brian injury: differential and prenatal diagnosis of schizencephaly and porencephaly

Congenital anomalies of the central nervous system (CNS), although relatively frequent, can present prenatally with a wide dysmorphic spectrum. CNS anomalies can be classified into two groups; those in which a neurulation defect occurs during the first weeks of development, widely known as neural tube defects (NTDs), and those affecting lately the development of the brain during the time of neural proliferation, migration or organization. In addition, there are pseudo-cystic lesions affecting the brain parenchyma, which origin can be difficult to establish during examination of the fetal brain. Schizencephaly is a typical example of neural migration disorder and porencephaly is usually secondary to an external insult either caused by an infection, hemorrhage, or trauma. These lesions present several features at ultrasound and magnetic resonance imaging that can be used in the differential diagnosis. We review this topic and propose some imaging signs which may help in establishing the prenatal diagnosis.

Las anomalías congénitas que comprometen el Sistema Nervioso Central (SNC) son relativamente frecuentes aunque presentan un amplio espectro dismorfico en la etapa fetal. Estas lesiones pueden ser clasificadas en dos grupos, aquellas con defecto de la neurulación que ocurren durante las primeras semanas de la gestación, clásicamente conocidos como defectos del tubo neural (DTN), y las anomalías que comprometen posteriormente el desarrollo del cerebro durante la etapas de proliferación, migración u organización neuronal. Existen sin embargo, lesiones pseudo quísticas del parénquima cerebral que pueden llevar a confusión durante el examen cerebral fetal. La esquizencefalia es un típico ejemplo de defecto de migración neuronal y la porencefalia habitualmente es secundaria a una injuria externa de tipo infecciosa, hemorrágica o traumática. Estas lesiones presentan algunas características típicas al ultrasonido (US) y a la resonancia magnética (RM) que pueden ser considerados criterios para el diagnóstico diferencial prenatal. Se revisa el tema y se proponen algunos signos imagenológicos para clarificar el diagnóstico prenatal.

A Neonatal Case of Septo-Optic Dysplasia with Schizencephaly

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.

Esquizencefalia: un trastorno de la migración neuronal / Schizencephaly: a disorder of neuronal migration

La esquizencefalia es el trastorno más frecuente de la migración neuronal y ocurre entre el tercero y quinto meses de la gestación. Se describen en este artículo sus posibles causas genéticas (EMX2), vasculares e infecciosas, así como sus manifestaciones clínicas, radiológicas y electroencefalográficas. El tratamiento es sintomático y multidisciplinario.

Schizencephaly is the most frequent neuronal migration disorder and it develops between the third and fifth gestational months. Genetic (EMX2), vascular and infectious etiologies have been described. Its clinical, radiological and electroencephalographic characteristics are described in this article. Treatment should be symptomatic and multidisciplinary.

Clinico-Radiological Spectrum of Neuronal Migrational Disorders: A Study of Paediatric Patients in the Western Region of Nepal.

Objective: This study was conducted in a tertiary care paediatric hospital to ascertain the spectrum of clinical and radiological features of Neuronal Migrational Disorders in children. The role of inheritance in Neuronal Migrational Disorders is under intense investigation. Studies on Neuronal Migrational Disorders (NMDs) in children from developing countries are lacking. Method: Retrospective analysis of records of diagnosed cases by neuroimaging as Neuronal Migrational Disorders in the Department of Paediatrics. Results: Eighteen Children (2days to 8years age) with different types of neuronal migrational disorder based on neuro-imaging were included. Observed anomalies included Lissencephaly (33.3%), Pachygyria (16.6%), Polymicrogyria (5.5%), Heterotopia (11.1%), Schizencephaly (22.2%) and Hemimegalencephaly (5.5%). Focal Seizure in 5 (27.7%) cases, Generalised Tonic Clonic Seizures in 3 (16.6%) and Myoclonic Seizure in 2 (11.1%) cases were the types of seizure present in 10 (55.5%) patients. Five patients presented with Quadriparesis, two with Hemiplegia and one with Congenital Talipes Equinovarus. All the eighteen patients had some degree of Cognitive Developmental Delay. Conclusion: Lissencephaly is the most common type of Neuronal Migrational Disorder followed by Schizencepahly. Focal Seizure and Quadriparesis were the common manifestations. Family history of similar cases with parental consanguinity in Schizencephaly cases gives a clue to the autosomal recessive mode of inheritance. Family history of similar cases of Schizencephaly without any history of consanguinity indicates an autosomal pattern of inheritance.

Epilepsia e desordens de malformação do desenvolvimento cortical / Epilepsy and malformations of cortical development disorders

OBJETIVOS: As desordens do desenvolvimento cortical (DDC) constituem a segunda causa de epilepsia refratária. Diversas patologias estão incluídas nas DDC. Seu diagnóstico foi facilitado com o desenvolvimento na neuroimagem. MÉTODOS: No presente artigo, apresentamos sete casos divididos em três grupos, de acordo com o mecanismo de produção das DDC: 1) anormalidades da proliferação e diferenciação de neurônios da glia; 2) anormalidades de migração neuronal; 3) anormalidades na organização neuronal. A investigação consistiu em história mais exame neurológico, avaliação neuropsicológica, ressonância magnética e eletrencefalograma. RESULTADOS E CONCLUSÕES: Três pacientes apresentaram displasia cortical focal, dois apresentaram heterotopia em banda, um paciente apresentava lisencefalia e uma apresentava esquizencefalia. Todos os pacientes apresentavam epilepsia de difícil controle. Malformações corticais constituem um grupo heterogêneo de causas de epilepsia de difícil controle. É importante para o manejo médico que as diversas formas de malformações corticais sejam conhecidas e diagnosticadas, o que foi facilitado pelo advento da ressonância magnética.

OBJECTIVES: Cortical development disorders (CDD) are the second cause of refratary epilepsy. Various patologies are included in the CDD. The diagnosis was easy with the continuous development of the neuroimaging. METHODS: In the present paper we show seven cases divided in three groups, accourding with the mecanism of production of the CDD: 1) proliferation and diferentiation abnormalities of the glial cells; 2) abnormalities of the neuronal migration; 3) abnormalities of the neuronal organization. The investigation consisted in story and neurological examination, neuropsicological avaliation, magnetic ressonance imaging and eletroencephalogram. RESULTS AND CONCLUSION: Three patients had focal cortical dysplasia; two had heterotopic band, one patient had lissecephaly and another had schizencephaly. All the patients had refractory epilepsy. Cortical malformations are a heterogeneous group of refractory epilepsy. Knowing and diagnosing these different types of cortical malformations are important steps for their treatment, and were facilitated by de advent of magnetic resonance imaging.

A Case of Infantile Nystagmus in a Child with Schizencephaly

PURPOSE: Nystagmus is a rare involuntary eye movement which has no known, specific, underlying diseases. Schizencephaly is also a rare disease. A child with generalized developmental delay came to the pediatric clinic. He showed schizencephaly on MRI, and was referred to department of rehabilitation. During rehabilitative evaluation, the patient was referred to the department of ophthalmology due to esotropia. We found that the patient had little esotropia, but did have nystagmus. Therefore, we report a case of congenital nystagmus associated with schizencephaly. METHODS: A one-year-old boy showing schizencephaly on MRI and esotropia underwent examination. RESULTS: The patient did not have a remarkable past or familial history, and didn't show any other anomaly. There were no abnormal findings on slit lamp examination, and according to strabismus studies, he showed very little esotropia. He did show nystagmus. We couldn't find any significant refractive error or ocular dysfunction on cycloplegic refraction and fundus examination, respectively. Visual evoked potential showed normal findings. On MRI, ordered by the pediatrician, open-lip type schizencephaly on the right frontal lobe and absence of septum pellucidum were seen. There was no endocrinologic abnormality. CONCLUSIONS: We report the case of a child with congenital nystagmus accompanied by schizencephaly, and present a literature review.

Schizencephaly Suspected as Normal Tension Glaucoma on Ophthalmoscopic Examination

PURPOSE: Occasionally, in nonglaucomatous optic atrophy, the optic nerve head may appear to be cupped to such a degree that normal tension glaucoma is suspected. We report such a case of visual field defects from schizencephaly in a patient initially suspected to have normal tension glaucoma, using ophthalmoscopic examination only. METHODS: An 18-year-old male patient visited our clinic because of bilateral visual disturbance which had developed 5 years previously. Ophthalmoscopic examination revealed an increased cup to disc ratio, peripapillary atrophy, and loss of temporal neuroretinal rim tissue. The authors suspected normal tension glaucoma in both eyes. However, because the patient was too young and the visual field test revealed atypical field defects of the left superior quadrants in both eyes, we performed MRI. The results showed right schizencephaly with an absence of septum pellucidum. In order to rule out hypothalamic- pituitary dysfunction which can coexist with the absence of septum pellucidum, we conducted combined pituitary function test (cocktail test) which revealed normal results. RESULTS: The patient was initially suspected to have normal tension glaucoma on ophthalmoscopic examination alone. However, because the patient was too young and showed nonglaucomatous visual field defects, MRI was performed and revealed right schizencephaly.

A Case of Antenatally Detected Schizencephaly / 대한산부인과학회잡지

Schizencephaly is an unusual condition rarely detected antenatally. It is a neuronal migrational disorder consisting of clefts in the brain that communicate with the lateral ventricles. The etiology and the pathogenesis is not clearly estabilished. While some authors advocate a vascular insult with a secondary effect on brain development, others suggest a primary cerebral dysgenesis by genetic or acquired factors. The importance of making an accurate antenatal diagnosis is that the outcome for schizencephaly in considerably poor than for other causes of ventriculomegaly. Typical symtoms include seizures, mental retardation, spastic tetraplagia and blindness. We report a case of typeIIschizencephaly that was diagnosed antenatally in the third trimester with a brief reiew of literatures.

A Case of Open - lip Schizencephaly

Schizencephaly, first described by Yakovlev and Wadsworth in 1946, is a rare congenital anomaly characterized by gray matter-lined clefts that extend through the entire cerebral hemisphere, from the ependymal lining of the lateral ventricle to the subarachnoid space. Clinically, patients with schizencephaly present motor dysfunction such as hemiparesis, seizures, and variable developmental delay. Absence of septum pellucidum, gray matter heterotopia, polymicrogyria, and hypoplasia of optic nerves were also frequently found to be associated with schizencephaly. We experienced a case of open-lip schizencephaly in a one-day-old male infant with wide, tense fontanel, which was confirmed by MRI.