Schizencephaly: Case Report
Lino Sieirovisibility
…
description
3 pages
link
1 file
Problem statement: Whereas schizencephaly is a malformation of cortical development which exact cause remains unknown, is almost entirely characterized by clefts extending from the pial surface to ependymal surface and could be unilateral or bilateral. Oftentimes, it also occurs in association with other abnormalities. Over the years, two types were described in literature, lips closed and open. Therefore, our intention is describe a case of schizencephaly monitored by the Neurology Service of Nova Iguacu University Hospital. Approach: A 29-year old single male student, presenting clinical history of epilepsy since he was 23 years old (partial seizures with secondary generalization) showed a global delay in neuropsychomotor development. Results: The patient has been admitted in the emergency department and his seizures were controlled with IV diazepan, followed by phenobarbital and phenotoyn. CT scan has revealed a cortical maldevelopment described as bilateral schizencephaly. After these procedures, he was released six days later, seizure-free, using carbamazepine and phenotyn. Conclusion: Is indeed that prognosis for individuals with schizencephaly varies depending on the size of the clefts and the neurological deficit degree. In general, treatment for individuals with schizencephaly usually consists of physical therapy, occupational therapy, treatment for seizures and, in a few cases complicated by hydrocephalus, a shunt is required.
Related papers
Epilepsy and Cortical Malformation Type Schizencephaly: Concerning Two Cases Revealed in Young Adult
2020
Schizencephaly: clinical and imaging features in 30 infantile cases
Brain and Development, 2000
Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible for this lesion which occurs between the third and fourth month of gestation. We report the clinical and cranial imaging features of 30 children, of whom 15 had unilateral and 15 had bilateral lesions. Their ages at the time of the first presentation ranged from 1 month to 10 years. They were thoroughly studied from clinical, epileptical, imaging and electroencephalographic (EEG) viewpoints. Five patients were investigated by cranial computed tomography (CT), eight by cranial magnetic resonance (MR) imaging, and 17 by both methods. The clinical features consisted of mild hemiparesis in 17 cases (57%), 12/17 were related to a unilateral phenotype (80% of all unilateral forms) and 5/17 to a bilateral phenotype. A tetraparesis was present in nine cases, all of which were due to a bilateral cleft. Bilateral forms were significantly associated with tetraparesis, whereas unilateral forms were associated with hemiparesis. Mental retardation was observed in 17 cases (57%), and was observed significantly more often in bilateral clefts (80%). When both hemispheres are involved, an absence of reorganization of the brain function between the two hemispheres leads to severe mental deficits, in addition to the cerebral anomaly itself. Eleven patients had seizures (seven from unilateral and three from bilateral forms). The degree of malformation was not related to the severity of epilepsy. Migration disorders, such as dysplasia or heterotopia, were observed in 30% of cases and are also important etiopathogenetic factors. The septum pellucidum was absent in 13 cases (43%), with septo-optical dysplasia in two cases. Corpus callosum dysgenesis was noted in 30% of cases. Four cases of mega cisterna magna were noted. Although familial cases and environmental factors have been previously reported, schizencephaly appears to be, in the majority of cases, sporadic.
Schizencephaly – A Rare Case Report
Journal of Medical Science And clinical Research, 2016
Schizencephaly is severe but rare cortical malformation. It is a disorder characterized by a cleft in cerebral mantle, which communicates between the subarachnoid space laterally, and ventricular system medially. Diagnostic modalities are CT scan & MRI. Here we report a case of middle aged female presenting with distinct clinical features & characteristic CT Brain findings. Though the case is rare is a good example for reviewing the literature and coming to diagnosis of schizencephaly.
Schizencephaly: a rare case with early diagnosis, management and review of literature
International Journal of Reproduction, Contraception, Obstetrics and Gynecology
Schizencephaly or split brain is an uncommon congenital disorder of cerebral cortical development, belonging to the group of cell migration defects. It is characterized by the presence of a cleft in the brain extending from the surface of the piamater to the cerebral ventricles. A 21-year-old primigravida at 19+2 weeks of gestation was referred to our Outpatient department with a level-2 ultrasound done at 18+2 weeks suggestive of schizencephaly. First trimester genetic screening was not done. Quadruple testing was normal. After genetic consultation and poor prognostication by neonatologist, decision for medical termination of pregnancy was taken. Patient underwent medical termination with mifepristone -misoprostol regimen. A female abortus weighing 200 gm was delivered. Gross examination showed only facial malformation in the form of cleft lip and hypoplastic nose. Infantogram did not reveal any skeletal deformity. On fetal autopsy, findings were consistent with the diagnosis of sc...
Schizencephaly: Neuroradiologic and Epileptologic Findings
Epilepsia, 1996
Purpose: Nine patients affected by schizencephaly were analyzed, and the epileptologic findings prospectively studied, to define the relations between the anatomic brain malformations and clinical outcome.
Clinical findings in 16 patients with tomographic diagnosis of schizencephaly
Radiologia …, 2006
OBJECTIVE: To establish a correlation between clinical features in a group of children with tomographic diagnosis of schizencephaly and clefts extent and localization. MATERIALS AND METHODS: Retrospective study of dossiers from the archives of Neurology and Medical Genetics Services at Instituto Fernandes Figueira/Fiocruz and Hospital Municipal Jesus, Rio de Janeiro, RJ, Brazil, in the period between 2000 and 2003. The study included 16 patients, nine female and seven male, with tomographic diagnosis of schizencephaly investigated for clinical findings, psychomotor development, motor/cognitive deficits and epilepsy. RESULTS: Predominance of bilateral clefts in 10:16 patients, open-lip schizencephaly type in 23:27 patients, and small lips in 11:27 patients. As regards anomalies associated with schizencephaly, pellucid septum absence was the most frequent one (10:16 patients). As regards clinical findings, 15 patients presented with developmental delay and motor deficit, six patients with cognitive deficit and ten with epilepsy. In three patients, we observed discordant clinical findings and cleft sizes, although the clefts were small, the clinical features severity was high because of other cerebral anomalies. CONCLUSION: The clinical features of schizencephaly are related to the size of the clefts, regardless laterality, presenting higher severity when associated with other cerebral anomalies.
Flower morphology of selected species of genera Kalanchoe and Bryophyllum in Nigeria
Academia Biology, 2023
A morphological study of the three Kalanchoe species in the subfamily Kalanchoideae of the family Crassulaceae in Nigeria was carried out. The qualitative and quantitative morphological attributes of the species were recorded with the aim of documenting and identifying the characters that can be used to delimit the species. Fresh samples of the flower of Kalanchoe crenata (Andr.) Haw, Kalanchoe lanceolata (Forsk.) Pers, and Bryophyllum pinnatum (Lam.) Oken were collected and subjected to morphological studies. Qualitative and quantitative attributes were recorded. Data gotten from quantitative attributes were subjected to least significance difference test (LSD) for mean separation and further subjected to single linkage cluster analysis (SLCA) and principal component analysis (PCA). Unifying attributes such as petals and sepals, four in number, were recorded. Attributes that can be used to delimit the species such as petal color were recorded.
Sepulturas femininas ricas de Nižná Myšľa
In: J. A. Lopez Padilla, R. Risch, J. Dani (eds), Dinastías. Los primeros reinos de la Europa prehistórica, 2024
Retórica jesuítica sobre la extirpación de la idolatría y la superstición en dos territorios de misión: el Gran Nayar y Maynas (Siglo XVIII)
Tesis Doctoral , 2024
Esta investigación doctoral tuvo el objetivo de establecer un estudio comparativo sobre la labor pastoral ejercida por la Compañía de Jesús en el proceso de la extirpación de la idolatría y la superstición desplegado en los territorios de frontera, a partir de la selección de dos complejos misioneros cuyo apogeo económico y espiritual tuvo lugar durante la mayor parte del siglo XVIII: el Gran Nayar y Maynas. El primero se ubicaba en las puertas del septentrión novohispano, en los límites jurisdiccionales del Nuevo Reino de Toledo, y fue establecido en el año de 1722. El segundo, ubicado en los actuales territorios de la Amazonia peruana y ecuatoriana, era administrado por el colegio de Quito desde 1638. Para lograr el objetivo planteado, se analizó la retórica desplegada por los misioneros que dejaron testimonio escrito de la labor evangelizadora a través de distintos medios escritos, la cual guiaba la política de reducción en su búsqueda por extirpar las actividades idolátricas y supersticiosas, tomando en cuenta los siguientes elementos: las similitudes y diferencias que caracterizaron los procesos de colonización en ambas regiones, los mecanismos espirituales que permitieron el establecimiento de las misiones jesuíticas y los argumentos retóricos centrados en la persecución de las prácticas contrarias a la moral cristiana, en relación con el fenómeno de la presencia e influencia del Maligno entre las sociedades reducidas. De igual modo, la atención se centró en la identificación de aquellas conexiones o “entrecruzamientos” de corte general que otorgan sentido a la relación establecida entre los elementos conceptuales que se pretendieron retomar. Asimismo, el contenido de la investigación buscó dar respuesta a las siguientes preguntas: ¿cuáles eran las bases teóricas y los instrumentos pastorales que guiaban el sistema misional jesuítica en la América virreinal?; ¿cuáles eran las nociones de “idolatría” y “superstición” que guiaban la actuación de la Compañía en los confines americanos?; ¿cuáles fueron los factores que determinaron el avance del adoctrinamiento cristiano en las misiones de la sierra del Nayar, y en la provincia de Maynas?; y ¿cómo se reflejaron y cómo fueron recibidas las políticas de extirpación y el aparato retórico desplegado en ambos territorios?
HASIL PENELITIAN DAN PEMBAHASAN Hasil Penelitian
Kredit modal kerja merupakan salah satu produk kredit produktif yang diberikan bank kepada masyarakat khususnya untuk pelaku UMKM. Bank Mandiri sebagai bank terbesar di Indonesia menyalurkan kredit modal kerja kepada nasabahnya melalui proses analisis yang terperinci. Tujuan penelitian ini untuk mengetahui bagaimana metode Bank Mandiri untuk menilai kelayakan kredit dan penetapan jumlah plafon kredit untuk calon debitor khususnya UMKM. Penelitian ini menggunakan metode deskriptif kualitatif. Hasil penelitian yang dilakukan dengan wawancara, observasi, serta mempelajari dokumen dokumen terkait di Bank Mandiri menunjukkan bahwa penilaian kelayakan kredit yang dijalankan Bank Mandiri sudah sepenuhnya sesuai dengan cara penilaian kelayakan kredit pada umumnya, selain itu Bank Mandiri juga memiliki metode khusus dalam penilaian kredit. Metode yang digunakan sepenuhnya dituangkan dalam nota analisa sehingga hasil penilaian akan lebih akurat, efektif, dan teliti, ini dilihat dari begitu terperincinya informasi yang didapatkan untuk menganalisa calon debitor yang mengajukan permohonan kredit modal kerja. Saran untuk manajemen dan sistem perkreditan Bank Mandiri yang telah terpelihara dengan baik adalah agar dapat mempertahankan dan meningkatkan kinerja serta kualitas perkreditan.
American Medical Journal 3 (2): 228-230, 2012
ISSN 1949-0070
© 2012 Science Publications
Schizencephaly: Case Report
1
Juliana Oliveira Freitas Silveira,
Fernanda Schettini de Oliveira, 2Fernanda Arrua Vares, 1Yanes Brum Bello,
1
Carlos Henrique Melo Reis, 3Marco Orsini, 3Peter Salem Junior,
1
Gilberto Canedo Jr., 2Lino Sieiro Neto, 4Amanda Julia Ramos Bezerra,
4
Dionis Machado, 4Victor Hugo Bastos and 1Antonio Marcos da Silva Catharino
1
Department of Neurology,
Nova Iguacu University Hospital, Nova Iguacu-Rio de Janeiro, Brazil
2
Clinical Medical Service, Nova Iguacu University Hospital, Nova Iguacu-Rio de Janeiro, Brazil
3
Department of Neurology, Antonio Pedro,
University Hospital-Federal Fluminense, UFF, Brazil
4
Department of Physiotherapist, Center of Sciences of the Health,
Federal University of Piaui (UFPI), Parnaiba, PI, Brazil
1
Abstract: Problem statement: Whereas schizencephaly is a malformation of cortical development
which exact cause remains unknown, is almost entirely characterized by clefts extending from the pial
surface to ependymal surface and could be unilateral or bilateral. Oftentimes, it also occurs in
association with other abnormalities. Over the years, two types were described in literature, lips closed
and open. Therefore, our intention is describe a case of schizencephaly monitored by the Neurology
Service of Nova Iguacu University Hospital. Approach: A 29-year old single male student, presenting
clinical history of epilepsy since he was 23 years old (partial seizures with secondary generalization)
showed a global delay in neuropsychomotor development. Results: The patient has been admitted in
the emergency department and his seizures were controlled with IV diazepan, followed by
phenobarbital and phenotoyn. CT scan has revealed a cortical maldevelopment described as bilateral
schizencephaly. After these procedures, he was released six days later, seizure-free, using
carbamazepine and phenotyn. Conclusion: Is indeed that prognosis for individuals with
schizencephaly varies depending on the size of the clefts and the neurological deficit degree. In
general, treatment for individuals with schizencephaly usually consists of physical therapy,
occupational therapy, treatment for seizures and, in a few cases complicated by hydrocephalus, a shunt
is required.
Key words: Epilepsy, schizencephaly, brain malformation, computed tomography
Schizencephaly was first described by Yakovlev
and Wadsworth in 1946. It consists of gaps extending
from the cortex reaching into the ventricle, from the
pial membrane level up to the ependyma layer, with its
margins being lined by gray cortical matter, primarily
affecting the perissylvian areas (Marinelli et al., 2011;
Spalice et al., 2009; Amaral et al., 2001). It also has
been associated with other abnormalities such as
polimicrogyria, pquigyria, heterotopias, agenesis of the
septum pellucidum, optic nerve hypoplasia as well as
agenesis of corpus callosum (Rodrigues et al., 2006;
Amaral et al., 2001). Two types of schizencephaly are
commonly described: type 1 or “closed lip” showing
INTRODUCTION
Schizencephaly is a developmental malformation
of cerebral cortex, a congenital disorder whose exact
cause still remains unknown. Nevertheless, the most
accepted theory that have been accepted until
nowadays, is the defective proliferation and/or neuronal
migration and cortical layer organization (Marinelli et
al., 2011; Rodrigues et al., 2006; Santra and Sen,
2008). Recent studies suggest the involvement of
EMX2 gene in this disorder physiopathogenesis
(Rodrigues et al., 2006; Spalice et al., 2009; Squier and
Jansen, 2010).
Corresponding Author: Juliana Oliveira Freitas Silveira, Department of Neurology, Nova Iguaçu University Hospital,
Nova Iguaçu-Rio de Janeiro, Brazil
228
Am. Med. J. 3 (2): 228-230, 2012
The clinical picture presents itself according to the
severity of symptoms, depending upon the exact extent
of the anatomical defect and also on the location of the
brain defect (Amaral et al., 2001). The most common
clinical
findings
include:
motor
deficit,
epilepsy/seizures and mental retardation associated to
delayed neuropsychomotor development (Rodrigues et
al., 2006; Amaral et al., 2001).
The diagnosis establishment comes through
neuroimaging: CT or MRI, the latter being much better
at detecting the gaps and spaces, abnormalities
coexistence (Amaral et al., 2001; Kalia and Saggar,
2009). Nowadays, prenatal diagnosis is also possible
through ultrassound and MRI, especially in type 2 or
“open lip” schizencephaly (Witters et al., 2007;
Mancini et al., 2001).
both cortical borders juxtaposed and type 2 or “open
lip” whose hiatus or gap (or cavity) is filled with
cerebrospinal fluid, this last one is the most common of
both (Marinelli et al., 2011; Santra and Sen, 2008;
Amaral et al., 2001; Kalia and Saggar, 2009).
Case report: A 29-year old single male student with a
history of epilepsy since 23 years old (partial seizures
with secondary generalization) presenting a global
delay in neuropsychomotor development. Eventual
seizures persist, particularly after medication on an
irregular basis (100 mg of phenobarbital 12/12 h). The
patient has been accepted in the emergency department
of Nova Iguaçu General Hospital in July/2011 due to
seizures. His seizures were controlled using IV
diazepan, followed by phenobarbital and phenotoyn.
CT scan has revealed a cortical maldevelopment
described as bilateral schizencephaly (Fig. 1). The
patient was released six days later, seizure-free, in use
of carbamazepine (200 mg 8/8h) and phenotyn(100 mg
12/12 h). He is currently in follow up at this hospital´s
neurology unit.
DISCUSSION
In mammals, the conformation of cerebral cortex is
a process featured of proliferation, migration,
differentiation and cell death (Meneses et al., 2006;
Silva and Cavalheiro, 2004). The cortical development
disorders results in changes in cytoarchitecture of the
cerebral cortical layers (Meneses et al., 2006; Sarkis et
al., 2010). Innumerable classification of these disorders
ranging from anatomy, histopathology, embryology
until genetics (Meneses et al., 2006; Barkovich et al.,
2005). As such, schizencephaly is a developmental
cortical desorder, integrating group of malformations in
cortical organization. It is believed that an initial genetic
or enviromental injury occurs just after neuronal
migration, under this circunstances, the cytoarchitecture of
the cortex when continuity begins to develop between
itself and the telecephalon (Meneses et al., 2006; Palmini,
2000).
Fig. 1: Imaging studies showed parietal gaps of closed
lips, small and on both sides, taken together
confirms the schizencephaly diagnosis
229
Am. Med. J. 3 (2): 228-230, 2012
Several cortical malformations represents a
multifaceted group of etiologies/causes related to
epilepsy and also difficult the clinical control (Meneses
et al., 2006). Our patient demonstrated delay in
neuropsychomotor development of milestones (at first,
he walked at six years old and learned to read at ten),
Alongside the presence of a 4/d spastic tertraparesis,
hyperrreflexia and cognitive deficits were associated to
a clinical epilepsy history, in his third decade of life.
Features on neuroimaging studies revealed parietal gaps
of closed lips, small and located on both sides, ratifying
the schizencephaly diagnosis, even though craneal
MRI, considered the gold standard for diagnosis was
not performed. Although less meticulous, CT scan is
cheaper and more accessible to the general population
(Amaral et al., 2001). The patient currently undergoes
physical therapy as well as occupational therapy to
handle his motor sequelae.
Meneses, M.S., A. Hertz, C. Gruetzmacher, S.F. Blattes
and E.B.D.S. Junior et al., 2006. Epilepsia e
desordens de malformação do desenvolvimento
cortical. J. Epilepsy Clin. Neurophysiol., 12: 149154. DOI: 10.1590/S1676-26492006000500007
Palmini, A., 2000. Desordens Do Desenvolvimento
Cortical. In: Cendes F, Lopes-Cendes I. Epilepsia,
Guerreiro, C.A.M. and M.M. Guerreiro (Eds.)., São
Paulo, Lemos, pp: 265-82.
Rodrigues, M.C.S., A.M.V. Monteiro, J.C.L. Junior and
A.R. Fernandes, 2006. Aspectos clínicos em 16
pacientes com diagnóstico tomográfico de
esquizencefalia. Radiol Bras, 39: 323-326.
Santra, G. and S.S. Sen, 2008. Schizencephaly.
JIACM., 9: 233-236.
Sarkis, R.A., L.E. Jehi, W.E. Bingaman and I.M. Najm,
2010. Surgical outcome following resection of
rolandic focal cortical dysplasia. Epilepsy Res., 90:
240-247. DOI: 10.1016/j.eplepsyres.2010.05.010
Silva, A.V.D. and E.A. Cavalheiro, 2004. Epilepsia:
Uma janela para o cérebro. Multiciência.
Spalice, A., P. Parisi, F. Nicita, G. Pizzardi and F. Del
Balzo et al., 2009. Neuronal migration disorders:
Clinical, neuroradiologic and genetics aspects.
Acta Paediatrica, 98: 421-433. 10.1111/j.16512227.2008.01160.x
Squier, W. and A. Jansen, 2010. Abnormal
development of the human cerebral cortex. J.
Anatomy, 217: 312-323. DOI: 10.1111/j.14697580.2010.01288.x
Witters, I., M. Cannie, P. Casaer, K. Devriendt and J.P.
Fryns, 2007. Prenatal diagnosis of schizencephaly
after inhalation of organic solvents. Ultrasound
Obstet.
Gynecol.,
29:
356-361.
DOI:
10.1002/uog.3939
REFERENCES
Amaral, J.G.P.D., R.H. Yanaga, H.J. Geissler, A.C.
Neto and I. Bruck et al., 2001. Esquizencefalia:
Relato de onze casos. Arq Neuropsiquiatr, 59: 244249.
Barkovich, A.J., R.I. Kuzniecky, G.D. Jackson, R.
Guerrini and W.B. Dobyns, 2005. A developmental
and genetic classification for malformations of
cortical development. Neurology, 65: 1873-1887.
PMID: 16192428
Kalia, V. and K. Saggar, 2009. Schizencephaly. JK
Sci.,11: 108-108.
Mancini, J., V. Lethel, C. Hugonenq and B. Chabrol,
2001. Brain injuries in early foetal life:
Consequences for brain development. Dev. Med.
Child Neurol., 43: 52-55. PMID: 11201424
Marinelli, L., L. Bonzano, L. Saitta, C. Trompetto and
G. Abbruzzese, 2011. Continuous involuntary hand
movements and schizencephaly: Epilepsia partialis
continua or dystonia? Neurol. Sci., 33: 335-338.
DOI: 10.1007/s10072-011-0674-5
230
Related papers
Interview dans Le Monde, 07.04.24 : « La majeure partie des Israéliens ne veut pas voir la souffrance des Gazaouis
Le Monde, 2024
Vencer la violencia patriarcal desde la cosmovisión mapuche
Las luchas del Pueblo Mapuche, 2021
Point Process Modelling: applications, challenges and limitations of exploring human-landscape relations in Eastern Crete
GIS in Crete. Archaeological Questions and Computational Answers, 2024
La Teoría de la Dependencia orígenes y vigencias - presentacion
Tramas y Redes, 2022
Сельджукские минбары Анатолии: шедевры мусульманского искусства. Буклет выставки. Казань : Национальный музей Республики Татарстан, 2021
Сельджукские минбары Анатолии: шедевры мусульманского искусства. Буклет выставки., 2021
SA61. Association Between Childhood Adversity and Ultra-High Risk for Psychosis Status in a Populational Sample of Sao Paulo, Brazil
Schizophrenia Bulletin, 2017
Meiners v. Bering Strait School District and the Recall of Public Officers: A Proposal for Legislative Reform
Alaska Law Review, 1985
Psychometric properties of the Spanish version of the fear of COVID-19 scale in Peruvian medical students
Death Studies, 2021
Convective Heat Transfer to Sisko Fluid over a Nonlinear Radially Stretching Sheet
Heat Transfer Studies and Applications, 2015
Sense and nonsense about the impact factor
Cardiovascular Research, 1997
Serotonin in the Nervous System: Few Neurons Regulating Many Functions
IntechOpen eBooks, 2024
Short-term effects of particulate matter constituents on daily hospitalizations and mortality in five South-European cities: Results from the MED-PARTICLES project
Environment international, 2015