Diagnóstico prenatal de quistes interhemisféricos asociados a agenesia del cuerpo calloso / Prenatal diagnosis of callosal agenesis with interhemispheric cyst

Introducción: Los quistes interhemisféricos asociados a agenesia del cuerpo calloso constituyen un grupo infrecuente y heterogéneo de anomalías del SNC. Objetivo: Reportar nuestra experiencia en quistes interhemisféricos asociados a agenesia del cuerpo calloso (QIH/ACC), haciendo énfasis en sus características en la neurosonografía (NSG), su comparación con la resonancia magnética (RM) y su evolución clínica posterior. Método: Se incluyeron todas las pacientes con QIH/ACC evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de NSG y de RM cuando se realizó. Se entrevistó telefónicamente a los padres. Resultados: Fueron seleccionados 9 casos con QIH/ACC. De ellos, 5 fueron quistes tipo 1, 3 tuvieron anomalías asociadas y en los 3 hubo una anomalía genética patogénica. Cuatro casos fueron quistes tipo 2, 3 de ellos con un patrón NSG sugerente de síndrome de Aicardi. Hubo una excelente correlación entre NSG y RM, ya fuera esta última realizada ante- o posnatal, particularmente con relación a las malformaciones del desarrollo cortical asociadas al QIH/ACC. Conclusiones: En comparación con la RM y el resultado final, hubo alta concordancia con lo diagnosticado en la NSG, en especial en cuanto a malformaciones del desarrollo cortical asociadas, lo que añade valor al método diagnóstico que ofrecemos a nuestra población consultante.

Background: Callosal agenesis associated with interhemispheric cysts correspond to a rare and heterogenous group of CNS anomalies. Objective: To report our experience in interhemispheric cysts associated with agenesis of the corpus callosum (QIH/ACC), emphasizing its characteristics in neurosonography (NSG), its comparison with magnetic resonance imaging (MRI) and its subsequent clinical evolution. Method: All patients with QIH/ACC evaluated since 2008 were included. In all cases, clinical, NSG and MRI data were recorded when performed. The parents were interviewed by telephone. Results: A total of 9 cases were selected with QIH/ACC. 5 cases were type 1 cysts, 3 of them had associated abnormalities and in all 3 there was a pathogenic genetic anomaly. 4 cases were type 2 cysts, 3 of them with an NSG pattern suggestive of Aicardi syndrome. There was an excellent correlation between NSG and MRI, either before or postnatally, particularly in relation to cortical developmental malformations associated with QIH/ACC. Conclusions: Compared to MRI and the final result, there was high agreement with what was diagnosed in NSG, especially in what corresponds to associated cortical developmental malformations, which adds value to the diagnostic method we offer to our consulting population.

Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome / Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow

ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.

Variation analysis of EPG5 gene in a Vici syndrome family / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of Vici syndrome in a Chinese family.@*METHODS@#Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents.@*RESULTS@#The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging.@*CONCLUSION@#The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.

Intervención temprana en un lactante con agenesia de cuerpo calloso / Early intervention in a newborn with agenesis of the corpus callosum

Introducción: El programa de estimulación temprana en la primera infancia, está diseñado para promover y mejorar el neurodesarrollo. El cuerpo calloso es una masa arqueada de sustancia blanca, compuesta por un haz de fibras transversales, situada al fondo del surco longitudinal que conecta a ambos hemisferios cerebrales. Se asocia con prematuridad y edad materna avanzada. Objetivo: Demostrar la validez de un programa de intervención temprana en la evolución de un paciente con agenesia de cuerpo calloso en las etapas del neurodesarrollo. Presentación del caso: Lactante venezolano, masculino de 4 meses de edad, blanco, producto de un segundo embarazo. Padres jóvenes, no consanguíneos. A las 19 semanas le realizan ecografía fetal: imagen quística cerebral interhemisférica, sugestivo de agenesia del cuerpo calloso. Parto por cesárea de urgencia: 34 semanas por: CIUR, oligoamnios severo, sufrimiento fetal agudo y preeclampsia, con Apgar 7-9, peso: 1800 g. Es traído al Centro Internacional de Salud La Pradera, con el diagnóstico de agenesia de cuerpo calloso más retardo del desarrollo psicomotor. Se inicia programa de intervención temprana cinco veces por semana con evaluaciones cuatrimestrales. Se involucra a los familiares. A los 18 meses de edad alcanza los hitos longitudinales propios de la edad Conclusiones: La intervención temprana favorece los mecanismos de neuroplasticidad cerebral y proporciona una evolución satisfactoria en las etapas del neurodesarrollo independiente de la agenesia de cuerpo calloso. La participación intensiva de la madre del niño es crucial para el éxito de la intervención(AU)

Introduction: The program of early stimulation in the early childhood is designed to foster and improve neurodevelopment. The callused body is a curved mass of a white substance composed by a beam of transverse fibers located in the back of the longitudinal track that connects both brain hemispheres. It is associated to prematurity and advanced maternal age. Objective: To prove the validity of an early intervention program in the evolution of a patient with agenesis of corpus callosum in the stages of neurodevelopment. Case presentation: Venezuelan newborn, 4 months old, masculine, white skin, product of a second pregnancy. Young parents, no blood relation. At 19 weeks of pregnancy, it is conducted a fetal echography: interhemispheric cystic image, suggestive to agenesis of the corpus callosum. Emergency cesarean section at 34 weeks of pregnancy due to: IUGR, severe oligoamnios; acute fetal distress and preeclampsia, with 7-9 Agar, weight: 1800 g. The newborn was admitted in La Pradera International Health Center with a diagnosis of agenesis of the corpus callosum, and delay in the psychomotor development. It was started a program of early intervention five times in the week with four-monthly assessments. Relatives were involved in the program. At 18 months old, the patient achieved the longitudinal milestones of that age. Conclusions: Early interventions favour brain neuroplasticity mechanisms, and provide a satisfactorily evolution in the stages of neurodevelopment, obviating the agenesis of the corpus callosum. Intensive participation of the child's mother is essential for the success of the intervention(AU)

Abordaje diagnóstico de las alteraciones del cuerpo calloso: estado del arte / Diagnostic Approach to the Alterations of the Corpus Callosum: State of the Art

Las alteraciones del cuerpo calloso tienen una prevalencia en general de 1 por 1.000 nacidos vivos, estas alteraciones se encuentran en un 2-3 % de los niños con discapacidad o alteraciones del neurodesarrollo. Dentro de estos trastornos se incluyen la agenesia, la disgenesia, la hipoplasia y la hiperplasia. Debido a que estas alteraciones se asocian en un gran porcentaje con diferentes anomalías cerebrales y síndromes es relevante realizar un adecuado abordaje diagnóstico prenatal. Existen varios signos clave en la ecografía prenatal que permiten determinar si existe alguna alteración en el cuerpo calloso. La resonancia magnética se indica en casos de sospecha de alguna alteración en la ecografía prenatal y permite evaluar de manera más específica si existe alguna anomalía cerebral adicional. Esto es importante para determinar el pronóstico neurológico y realizar intervenciones oportunas.

Alterations of the corpus callosum have a general prevalence of 1/1,000 live births, and are found in 2-3% of children with developmental disabilities. These disabilities include agenesis, dysgenesis, hypoplasia and hyperplasia. Because these alterations are associated in a large percentage to different brain anomalies and syndromes, it is relevant to perform an adequate prenatal diagnostic approach. There are several key signs in the prenatal ultrasound that determine if there is any alteration in the corpus callosum. Magnetic resonance is indicated in cases of suspected anomalies in the prenatal ultrasound, and it can also evaluate more specifically if an additional cerebral anomaly is present. This is important because it allows to determine the neurological prognosis and to perform promptly interventions.

Successful management of absent sternum in an infant using porcine acellular dermal matrix

Congenital absent sternum is a rare birth defect that requires early intervention for optimal long-term outcomes. Descriptions of the repair of absent sternum are limited to case reports, and no preferred method for management has been described. Herein, we describe the use of porcine acellular dermal matrix to reconstruct the sternum of an infant with sternal infection following attempted repair using synthetic mesh. The patient was a full-term male with trisomy 21, agenesis of corpus callosum, ventricular septal defect, patent ductus arteriosus, right-sided aortic arch, and congenital absence of sternum with no sternal bars. Following removal of the infected synthetic mesh, negative pressure wound therapy with instillation was used to manage the open wound and provide direct antibiotic therapy. When blood C-reactive protein levels declined to ≤2 mg/L, the sternum was reconstructed using porcine acellular dermal matrix. At 21 months postoperative, the patient demonstrated no respiratory issues. Physical examination and computed tomography imaging identified good approximation of the clavicular heads and sternal cleft and forward curvature of the ribs. This case illustrates the benefits of negative pressure wound therapy and acellular dermal matrix for the reconstruction of absent sternum in the context of infected sternal surgical site previously repaired with synthetic mesh.

Aicardi syndrome: a case report / Síndrome de Aicardi: relato de caso

Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition.

Resumo Introdução: a Síndrome de Aicardi (SA), caracteriza-se como uma síndrome rara identificada na presença das três características clássicas: agenesia de corpo caloso, lacunas coriorretinianas e espamos infantis. Descrição: a coleta de dados envolveu informações relatadas pela genitora e pelo fisioterapeuta acompanhante da paciente, descrevendo assim a história clínica da paciente, as principais complicações de acordo com a evolução clínica, o tratamento e resposta terapêutica. Aos dois meses de idade a criança apresentou atraso no desenvolvimento neuropsicomotor e espasmos infantis, porém o diagnóstico da síndrome foi realizado somente aos seis meses de vida envolvendo um exame de ressonância magnética de encéfalo onde foi observada agenesia de corpo caloso, iniciando-se tratamento multidisciplinar com neuropediatra, fisioterapeuta, psicólogo, nutricionista e fonoaudiólogo, além do tratamento medicamentoso com baclofeno e fenobarbital. Discussão: através do tratamento estabelecido, a criança obteve ganho motor, controle cervical, melhora da condição respiratória e sem internações hospitalares, caracterizando uma boa evolução associada particularmente à intervenção fisioterapêutica que teve enfoque na prevenção e minimização de alterações respiratórias frequentemente associadas à morbidades e mortalidade nestes casos. Os resultados obtidos apontam o papel fundamental da intervenção multidisciplinar para o enfrentamento desta condição.

Síndrome de Pai: dos nuevos casos con manifestaciones inusuales / Pai syndrome: Two new cases with unusual manifestations

El síndrome de Pai se describe como la presencia de 3 anomalías congénitas: fisura de labio medial, pólipos cutáneos nasales y faciales, y lipoma pericallosal. La expresión clínica es variable. El desarrollo neuromadurativo suele ser normal. Existen 42 casos descritos en la literatura. Se proponen distintos tipos de herencia, pero, hasta la actualidad, no existe un gen asignado para esta patología. Se presentan dos pacientes con síndrome de Pai, uno de ellos con hallazgos clínicos aún no descritos (defectos de segmentación vertebral y osteoma coroideo).

Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 cases have been reported in the literature. Different types of inheritance have been proposed, but most cases are sporadic. No gene has been identified. We report two cases with Pai syndrome, one of them with novel clinical findings as vertebral segmentation defects and choroidal osteoma.

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot's spots and agenesis of the corpus callosum in an Egyptian child

We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot's spots most probably due to vitamin A deficiency. MRI brain revealed agenesis of the corpus callosum

Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea

OBJECTIVE: With recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center. METHODS: We retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center. RESULTS: Fifty-six fetuses were diagnosed with ACC, and 12 of those were followed-up in our center until delivery. Of the remaining 44, 7 were delivered after being referred back to the original hospital, 23 were lost to follow-up, and 14 had unknown outcomes. Among all 56, 29 were considered to have isolated ACC and 27 were considered to have non-isolated ACC. Of the 10 live fetuses delivered in our center, four had isolated ACC, three had non-isolated ACC, and the rest had outcomes unrelated to ACC. Neurodevelopmental outcome was followed-up until approximately age 3 years. Of the four with isolated ACC, three (75%) had normal neurodevelopmental outcomes. CONCLUSION: Similar to other studies, the results of our single-center study included positive neurodevelopmental outcomes for those with isolated ACC. However, despite our endeavor to counsel patients with prenatally diagnosed ACC, the delivery rate in our center was quite low. Therefore, larger, multicenter, retrospective studies including long-term neurological development outcomes are crucial and urgently needed to provide better counseling.

Agenesia parcial del cuerpo calloso en una infante / Partial agenesis of the corpus callosum in a child

Se presenta el caso clínico de una infante de 13 meses de edad, con antecedente de agenesia del cuerpo calloso, quien ingresó en la sala de nutrición del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba por presentar ganancia insuficiente peso, pérdida de la visión en ambos ojos y audición disminuida. Se realizó resonancia magnética por imágenes donde la presencia del esplenio confirmó la agenesia parcial.

The case report of a 13 months child is presented with a history of agenesis of the corpus callosum, who was admitted in the nutrition room of "Dr. Juan Bruno Zayas Alfonso" Teaching General Hospital in Santiago de Cuba, due to poor weight gain, loss of vision in both eyes and diminished audition. A magnetic resonance imaging was carried out where the presence of the splenium confirmed the partial agenesis.

Dysgenesis of the corpus callosum presenting as first-onset seizures in an apparently normal 32-year-old female

INTRODUCTION: Dysgenesis of the corpus callosum is a brain abnormality  involving  the  large  nerve  fibers  connecting  the  two  hemispheres  of  the  brain.  The  corpus  callosum  connects  the  left  and  right  cerebral  hemispheres  and  facilitates  interhemispheric  communication.  When it is malformed, these functions might be affected. CLINICAL PRESENTATION: This case report documents a patient with a malformed corpus callosum. She came in for first-onset generalized tonic clonic seizures. As part of a routine workup  for  patients  with  first-onset  seizures,a computed tomography (CT) scan of the brain was done. It revealed dysgenesis  of  the  corpus  callosum.  She  was  started on valproic acid and was discharged improved. CONCLUSION: Callosal disorders  usually present with some degree of neurologic impairment. The index case however has  no  detectable  neurologic  deficits  and  is  apparently normal.  The  rarity  of  a  dysgenetic  corpus  callosum mandates more epidemiological studies to further elucidate this disease.

Síndrome de carcinoma basocelular nevoide con agenesia de cuerpo calloso, mutación en PTCH1 y ausencia de carcinoma basocelular

El síndrome del carcinoma basocelular nevoide (SCBCN) o de Gorlin-Goltz es un raro desorden autosómico dominante con un amplio espectro de manifestaciones clínicas. El signo cardinal es la presencia de múltiples carcinomas basocelulares (CBCs) y su ausencia demora el diagnóstico. Presentamos un adolescente de 14 años con diagnóstico de SCBCN por la presencia de queratoquistes odontogénicos, hiper­telorismo, macrocefalia y agenesia del cuerpo calloso pero sin lesiones cutáneas. La madre, de 43 años, tiene diagnóstico de SCBCN y no presenta CBCs. Para completar el estudio se realizó secuenciación bidireccional y Multiplex Ligation dependent Probe Amplification (MLPA) en sangre periférica para buscar mutaciones en PTCH1, principal gen responsable del síndrome. Se encontró una mutación germinal novel en el paciente y la madre: una duplicación de 25 pb en el exón 10 (c.1375dupl25bp). El análisis bioinformático predijo un corrimiento del marco de lectura y un codón stop prematuro, que produciría una proteína trunca más corta que lo normal. Nuestros resultados sugieren que el estudio clínico y genealógico completo con análisis genético es fundamental para la detección temprana de casos como el presente.

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz syndrome is a rare autosomal dominant disorder, mainly due to PTCH1 gene mutations, that comprises a broad spectrum of clinical manifestations. The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and corpus callosum agenesia, but with absence of skin lesions. His 43 years old mother has NBCCS diagnosis and no history of BCCs. For a deeper study, PTCH1 mutation screening from peripheral blood samples were performed by both bidirectional sequencing and multiplex ligation dependent probe amplification (MLPA) techniques. The proband and his mother carry 25 pb duplication in exon 10 (c.1375dupl25bp) that causes a reading frameshift with a premature stop codon. Bioinformatics analysis predicted that this mutation results in a truncated protein shorter than normal. Our results suggest that complete clinical and genealogical studies accompanied by genetic analysis are essential in the early detection of the NBCCS cases such the one presented here.

Spontaneous absence-like activity in Wistar rats: Behavioral and electrographic characteristics and the effects of antiepileptic drugs / Atividade epiléptica espontânea tipo ausência em Ratos Wistar: características eletrográficas e comportamentais e os efeitos de drogas antiepilépticas

Current investigation describes the behavioral and electrographic characteristics of spontaneous absence-like seizures identified in Wistar rats (referred to here as FMUSP-rats, after the Faculty of Medicine, University of São Paulo, São Paulo State, Brazil), and characterized by spike -wave discharges (SWDs) in the neocortex and the hippocampus. After consanguineous crossing directed to an increased incidence of seizures, the latter were observed in almost all F9 offspring. FMUSP-rat seizures are expressed as immobility and concomitant SWDs, oscillating between 7.5 and 12 Hz in the frontoparietal cortex and the hippocampus. Behaviorally, they are mainly associated with clonic movements of the eyes, rostrum and vibrissae, the latter ranging between 1 and 70 seconds and occur at a rate of up to 229 per hour. Systemic injections of ethosuximide (0, 25, 50, 100, 250 mg kg-1) and of diazepam (15 mg kg-1) increased the latency for the first seizure and reduced both the hourly incidence of SWD bursts and their mean duration. Carbamazepine (30 mg kg-1) injections increased both the incidence and duration of the SWDs, leaving the latency for the first seizure unchanged. Comparisons between FMUSP-rats and well-established genetic models of absence seizures data indicated that the animals described herein might contribute towards studies on the neurological condition under analysis.

Neste estudo, descrevemos aspectos eletrográficos e comportamentais de atividade semelhante às crises de ausência identificadas em ratos Wistar (ratos FMUSP - Faculdade de Medicina da Universidade de São Paulo, Estado de São Paulo, Brasil), que são caracterizadas por descargas em forma de espícula-onda no neocórtex e no hipocampo em 100% dos ratos da geração F9 resultante de cruzamentos consanguíneos. As crises se manifestaram com imobilidade comportamental associada com atividade eletrográfica em forma de espícula -onda oscilando entre 7,5 e 12 Hz no córtex frontoparietal e no hipocampo. Também foram observados comportamentos associados como clonias oculares, rostrais e de vibrissa que duravam de 1 a 70 segundos podendo ocorrer a uma taxa de até 229 eventos por hora. Injeçõe sistêmicas de etosuximida (0, 25, 50, 100 e 250 mg kg-1) and of diazepam (15 mg kg-1) aumentaram a latência para a primeira crise e reduziram tanto a incidência quanto a duração das crises. Injeções de Carbamazepina (30 mg kg-1) aumentaram tanto a incidência quanto a duração das crises sem interferir na latência. Comparações feitas entre os ratos epilépticos FMUSP com os modelos genéticos de epilepsia bem estabelecidos na atualidade indicaram que o modelo aqui descrito pode contribuir para um melhor entendimento dos mecanismos relacionados a esta condição neurológica.

An approach to screen fetal agenesis of the corpus callosum at 11-13(+6) weeks / 南方医科大学学报

<p><b>OBJECTIVE</b>To detect structural changes in the brain in fetuses with agenesis of the corpus callosum (ACC) and holoprosencephaly (HPE) in the first trimester.</p><p><b>METHODS</b>The ultrasound data were analyzed retrospectively in 620 normal singleton fetuses between 11 and 13(+6) gestational weeks, 5 fetuses diagnosed to have ACC, and 13 fetuses with HPE. The midbrain diameter (MD) and falx diameter (FD) were measured and their ratio (MD/FD) was calculated for comparative analysis.</p><p><b>RESULTS</b>No significant difference was found in the MD, FD, and MD/FD ratio between fetuses with ACC and HPE (P>0.05). Compared to the normal fetuses, all the fetuses with ACC and HPE showed significantly increased mean MD and MD/FD ratio (P<0.05); 4 (80%) fetuses with ACC and 11 (84.6%) with HPE had a reduced FD. All the fetuses with ACC and HPE had MD/FD ratios greater than 1, which were below 1 in all the normal fetuses.</p><p><b>CONCLUSION</b>In the first trimester, fetuses with ACC and HPE have measurable abnormalities in the midbrain and falx area of the brain, and these changes, represented by abnormal midsagittal MD, FD and their ratio, can be of value in detecting ACC or HPE in fetuses in the first trimester.</p>

A Case of Pai Syndrome: First Reported Case in Korea / 대한주산의학회잡지

Pai syndrome is a rare disorder, first described in 1987. Diagnostic criteria are the presence of the nasal polyp and one of the following: midline cleft lip, congenital polyp of mid-anterior alveolar process, and pericallosal lipoma. Thirty-six cases of Pai syndrome have been described so far. We report 1 case of Pai syndrome accompanied by congenital nasal polyp and callosal lipoma with partial agenesis of corpus callosum, the first time in Korea.

Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.</p><p><b>METHODS</b>Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.</p><p><b>RESULTS</b>A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.</p><p><b>CONCLUSION</b>A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.</p>

Ultrasonography and magnetic resonance imaging for diagnosis of neonatal agenesis of the corpus callosum: a comparative study / 南方医科大学学报

<p><b>OBJECTIVE</b>To summarize the ultrasonography features of neonate corpus callosum agenesis for better diagnosis of this condition.</p><p><b>METHODS</b>A total of 8563 neonates were screened by cerebral ultrasound in neonate care unit of our hospital from June 2010 to December 2012, and 37 cases of agenesis of the corpus callosum were identified. The diagnostic accuracy of ultrasonography and magnetic resonance imaging (MRI) for this condition was evaluated.</p><p><b>RESULTS</b>The sensitivity, specificity, and accuracy of ultrasound diagnosis for complete and incomplete absence of neonate corpus callosum were 100% and 90%, 90.9% and 94.1%, 94.6% and 91.9% in the 37 cases, respectively. The Kappa value of ultrasonography and MRI were 0.890 and 0.837, with a consistent rate of 91%.</p><p><b>CONCLUSION</b>Ultrasonography and MRI show a high consistency in the diagnosis of neonatal agenesis of the corpus callosum.</p>