[Septo optic dysplasia plus: about a case]. / Dysplasie septo optique plus: à propos d'un cas.

Septo optic dysplasia plus is a rare disease seen in children. Its diagnosis is radiological, based on brain magnetic resonance imaging (MRI). We report the case of a child aged 2 years and 4 months, with no particular pathological history; who consulted for psychomotor retardation, strabismus and low vision behavior. An endocrine biological assessment exploring the hypothalomo-pituitary function was carried out, revealing no abnormality. The diagnosis of septo-optic dysplasia plus was retained on the brain MRI data, in front of the agenesis of the septum pellucidum and of the splenium of the corpus callosum, the hypoplasia of the optic pathways and of the pituitary stalk as well as in front of the agenesis of the posterior pituitary. It was associated with a closed schizencephaly. Septo-optic dysplasia is a rare congenital malformation. Our objective is to recall its semiology in imaging and to underline the importance of MRI to establish the diagnosis. Septo-optic dysplasia is a rare clinical entity typically involving midline brain abnormalities, optic nerve hypoplasia, and pituitary insufficiency. The association with cortical malformations such as schizencephaly and polymicrogyria denotes the term septo-optic dysplasia plus. Advances in imaging currently allow early diagnosis, which is essential for adequate management. Antenatal ultrasound may suspect dysplasia, and brain MRI confirms the diagnosis.

Motor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function.

OBJECTIVE: Schizencephaly is a rare congenital malformation that causes motor impairment. To determine the treatment strategy, each domain of the motor functions should be appropriately evaluated. We correlated a color map of diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) with the hand function test (HFT) to identify the type of hand function that each test (DTI and TMS) reflects. Further, we attempted to demonstrate the motor neuron organization in schizencephaly. METHOD: This retrospective study was conducted on 12 patients with schizencephaly. TMS was conducted in the first dorsal interosseous (FDI), biceps (BB), and deltoid muscles of the upper extremity, and contralateral MEP (cMEP) and ipsilateral MEP (iMEP) were recorded. The HFT included the grip strength, box and block (B&B), and 9-hole peg test. The schizencephalic cleft was confirmed using magnetic resonance imaging, and the corticospinal tract (CST) was identified using the color map of DTI. The symmetry indices for the peduncle and CST at pons level were calculated as the ratios of the cross-sectional area of the less-affected side and that of the more-affected side. RESULT: In the more-affected hemisphere TMS, no iMEP was obtained. In the less-affected hemisphere TMS, the iMEP response was detected in 9 patients and cMEP in all patients, which was similar to the pattern observed in unilateral lesion. Paretic hand grip strength was strongly correlated with the presence of iMEP (p = 0.044). The symmetry index of the color map of DTI was significantly correlated with the B&B (p = 0.008, R 2 = 0.416), whereas the symmetry index of the peduncle was not correlated with all HFTs. CONCLUSION: In patients with schizencephaly, the iMEP response rate is correlated with the hand function related to strength, while the symmetricity of the CST by the color map of DTI is correlated with the hand function associated with dexterity. Additionally, we suggest the possible motor organization pattern of schizencephaly following interhemispheric competition.

Schizencephaly: A Review of 734 Patients.

BACKGROUND: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited. METHODS: We conducted a literature review and extracted data from the case reports. Of 199 articles retrieved, 156 articles (734 patients) met our inclusion criteria. RESULTS: Patient characteristics included microcephaly (41.5% of patients), seizures (74.1%), bilateral cleft (41.4%), open lip (61.3%), septo-optic dysplasia (69.1%), and ventricular dilation (60.5%). The majority of clefts were in the frontal and parietal lobes. When these potential association factors were assessed by univariate logistic regression microcephaly (OR = 21.75, P < 0.001), corpus callosum agenesis (OR = 9, P < 0.001), motor impairments (OR = 6.21, P < 0.001), and bilateral clefts (OR = 6.31, P < 0.001) seems to have the strongest association, but also age at diagnosis <10 years (OR = 1.05, P < 0.001), right (OR = 1.85, P = 0.001) or left (OR = 2.71, P < 0.001) side clefts and septum pellucidum (OR = 3.7, P = 0.002) agenesis were associated with neurocognitive dysfunctions. CONCLUSIONS: We describe novel findings with practical implications for predicting neurocognitive outcomes in patients with schizencephaly. Most patients had neurological impairments including motor (90.0%) or cognitive (77.5%) dysfunctions. Bilateral clefts, motor impairment, microcephaly, and corpus callosum agenesis were strongly associated with neurocognitive impairment. A lack of large cohorts of patients with schizencephaly prevented comparison of our results; most previous studies are case reports or small case series.

Severe Neurologic Disorders in 2 Fetuses with Zika Virus Infection, Colombia.

We report the results of pathologic examinations of 2 fetuses from women in Colombia with Zika virus infection during pregnancy that revealed severe central nervous system defects and potential associated abnormalities of the eye, spleen, and placenta. Amniotic fluid and tissues from multiple fetal organs tested positive for Zika virus.

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

BACKGROUND: A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy. METHODS: TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband. RESULTS: Chromosomal analysis and array-CGH showed no aberration. Target capture sequencing for COL4A1 and COL4A2 revealed a de novo COL4A1 mutation (c.2123G>T [p.Gly708Val]). The mutation occurred at a highly conserved Gly residue in the Gly-X-Y repeat of the collagen triple helical domain, suggesting that these mutations may alter the collagen IV α1α1α2 heterotrimers. The mutation was predicted to be damaging. CONCLUSION: We suggest that COL4A1 testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors.

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

BACKGROUND: No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011. METHODS: We sent inquiry forms in February 2012 to three neonatal intensive care units, 25 divisions of orthopedic surgery in municipal hospitals, 33 divisions of pediatrics including one university hospital, municipal hospitals, pediatric practitioners, and institutions for physically handicapped children located in Miyagi prefecture. These covered all clinics related to pediatric neurology and orthopedic surgery in Miyagi prefecture. In the inquiry, diagnostic criteria for porencephaly, schizencephaly, and hydranencephaly were described and representative images of magnetic resonance imaging were shown. We obtained an 82% (27 of 33) response rate from the divisions of pediatrics, a 100% (3 of 3) response rate from the neonatal intensive care units, and a 68% (17 of 25) response rate from orthopedic surgery clinics. The magnetic resonance imaging scans of each patient were retrieved and inspected. RESULTS: Five, one, and two individuals developed porencephaly, schizencephaly, and hydranencephaly, respectively. The estimated incidence rates of porencephaly, schizencephaly, and hydranencephaly were 5.2 (95% confidence interval [CI], 0.6-9.8), 1.0 (95% CI, 0.0-3.1), and 2.1 (95% CI, 0.0-5.0) per 100,000 live births, respectively. CONCLUSIONS: The prevalence rates of porencephaly, schizencephaly, and hydranencephaly at birth reported herein are compatible with results reported previously in the United States and European countries. The overall prevalence rate of these three diseases was 8.3 (95% CI, 2.6-14.1) per 100,000 live births.

Prenatal Diagnosis and Postnatal Outcome of Schizencephaly.

The aim of this study was to present our experience with 5 cases of fetal schizencephaly in terms of prenatal diagnostic features, and postnatal outcome. The database of prenatal diagnosis unit was searched for antenatally diagnosed cases with schizencephaly. Maternal characteristics, ultrasonography, prenatal-postnatal magnetic resonance imaging (MRI) findings, and postnatal outcome were noted. Of 5 cases, 2 had definitive prenatal diagnoses on ultrasound and 3 cases were diagnosed by fetal MRI. All cases had cerebral cortical migration anomalies including polymicrogyria, subependymal heterotopia, and lissencephaly, and 2 cases had additional extracranial malformations. Three cases showed regression of the cerebral clefts on follow-up postnatal MRIs. Three cases had moderate to severe psychomotor retardation, and 1 case needed repeated ventriculoperitoneal shunt operation due to hydrocephaly. Prenatal diagnosis of schizencephaly with ultrasonography is not straightforward and required further evaluation with fetal MRI. Additional cerebral anomalies worsen the prognosis of schizencephaly.

Correlation of prenatal and postnatal MRI findings in schizencephaly.

BACKGROUND AND PURPOSE: Schizencephaly is a rare malformation of the brain characterized by a gray matter-lined defect extending from the pial surface to the lateral ventricles. The purpose of this study was to correlate imaging findings of schizencephaly and associated anomalies on fetal and postnatal MR imaging and assess possible changes that may occur from the prenatal-to-postnatal state. MATERIALS AND METHODS: A retrospective review of subjects with schizencephaly who had both pre- and postnatal MR imaging was performed. Subject age, cleft type, number, location, and features of the defects and associated anomalies were recorded. Normalized dimensions of the defect and ipsilateral ventricle were measured and correlated to changes in the clefts between pre- and postnatal imaging. RESULTS: Ten subjects with 18 clefts (8 bilateral) were included. Most defects (83%) were open on prenatal MR imaging, but 47% of those were found to have subsequently closed on postnatal imaging. Evidence of prior hemorrhage was seen in 83%. Prenatal MR imaging detected all cases of an absent septum pellucidum but detected a fraction of gross polymicrogyria and missed all cases of optic nerve hypoplasia. The normalized ipsilateral ventricular and inner and middle width dimensions of the defects were significantly decreased at postnatal imaging (P < .05). The widths of the defects, ventricular width, and presence of hemorrhage were not predictors of closure of prenatally diagnosed open defects (P > .05). CONCLUSIONS: In our series, nearly half of prenatally open schizencephaly defects had closed on postnatal imaging. Prenatal MR imaging was only able to demonstrate some of the associated anomalies.

Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures.

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.