Two cases of persistent falcine and occipital sinuses.

BACKGROUND: The coexistence of falcine and occipital sinuses is rare and its natural course has not been reported. CASE REPORTS: Two patients with persistent falcine and occipital sinuses are described. Both patients had straight sinuses. In one, both the transverse and sigmoid sinuses were hypoplastic and the patient had an acquired Chiari I malformation. The other patient had no other venous anomalies and had a normal posterior cranial fossa. CONCLUSION: The coexistence of falcine and occipital sinuses can lead to an acquired Chiari I malformation. These cases suggest the importance of checking other venous and brain anomalies in this situation.

Fractional amplitude of low frequency fluctuation in drug-naïve first-episode patients with anorexia nervosa: A resting-state fMRI study.

To characterize the fractional amplitude of low-frequency fluctuation (fALFF) in drug-naïve first-episode female patients with anorexia nervosa (AN) using resting-state functional magnetic resonance imaging (rs-fMRI).Whole brain rs-fMRI data were collected from 7 drug-naïve first-episode female patients with DSM-5 AN and 14 age-matched healthy female controls. fALFF values were calculated and compared between the two groups using a two-sample t test. Correlation analysis between the fALFF values in the entire brain and body mass index (BMI) was performed.Compared with the healthy controls, increased fALFF values were observed in the AN patients in their right hippocampus and left superior frontal gyrus, while decreased fALFF values were observed in their left rectus and left middle occipital gyrus. Moreover, low BMI was significantly associated with decreased fALFF in the left inferior frontal gyrus but increased fALFF in the left calcarine. In particular, the z-standardized fALFF (zfALFF) value of the left rectus was positive associated with BMI.Our findings suggest that spontaneous brain activity in the frontal region, hippocampus and rectus, characterized by fALFF values, was altered in drug-naïve, first-episode female patients with AN.

Altered topological characteristics of morphological brain network relate to language impairment in high genetic risk subjects and schizophrenia patients.

OBJECTIVE: Evidence suggests relationships between abnormalities in various cortical and subcortical brain structures and language dysfunction in individuals with schizophrenia, and to some extent in those with increased genetic risk for this diagnosis. The topological features of the structural brain network at the systems-level and their impact on language function in schizophrenia and in those at high genetic risk has been less well studied. METHOD: Single-subject morphological brain network was constructed in a total of 71 subjects (20 patients with schizophrenia, 19 individuals at high genetic risk for schizophrenia, and 32 controls). Among these 71 subjects, 56 were involved in our previous neuroimaging studies. Graphic Theoretical Techniques was applied to calculate the global and nodal topological characteristics of the morphological brain network of each participant. Index scores for five language-related cognitive tests were also attained from each participant. RESULTS: Significantly smaller nodal degree in bilateral superior occipital gyri (SOG) were observed in individuals with schizophrenia, as compared to the controls and those at high risk; while significantly reduced nodal betweenness centrality (quantifying the level of a node in connecting other nodes in the network) in right middle frontal gyrus (MFG) was found in the high-risk group, relative to controls. The right MFG nodal efficiency and hub capacity (represented by both nodal degree and betweenness centrality) of the morphological brain network were negatively associated with the wide range achievement test (WRAT) standard performance score; while the right SOG nodal degree was positively associated with the WRAT standard performance score, in the entire study sample. CONCLUSIONS: These findings enhance the understanding of structural brain abnormalities at the systems-level in individuals with schizophrenia and those at high genetic risk, which may serve as critical neural substrates for the origin of the language-related impairments and symptom manifestations of schizophrenia.

Management of Chronic Migraine and Occipital Neuralgia in Post 9/11 Combat Veterans.

INTRODUCTION: The rate of chronic migraine (CM) has been shown to be 20% or greater in the post 9/11 combat veteran population with a history of traumatic brain injury, while the rate is much lower at 3-5% in the general population. Studies have shown that medications such as oral topiramate or intramuscular injections of onabotulinum toxin A (Botox) have been used for CM prevention, and occipital blocks have been shown to be helpful in treating occipital neuralgia and short-term relief of CM. However, there are no known studies that have specifically evaluated the use of Botox and occipital blocks for reducing headache frequency in the US veteran population. The purpose of this study was to evaluate the effectiveness of using occipital blocks and Botox as dual therapy for reducing headache frequency in post 9/11 combat veterans with CM, occipital neuralgia, and a history of TBI or neck trauma. MATERIALS AND METHODS: Following Institutional Review Board approval, a retrospective chart review was completed on post 9/11 combat veterans treated in a headache clinic located at the Central Texas Veteran Health Care System. The electronic medical record was used to retrieve the charts of post 9/11 combat veterans who (1) had a confirmed deployment-related history of TBI or neck trauma; (2) were diagnosed with CM and occipital neuralgia; and (3) were treated in the headache clinic between January 1, 2014 and December 31, 2015 with the administration of occipital blocks and Botox within the first six months. Of 282 charts that were reviewed, a total of 30 (N = 30) veterans fit the criteria. The mean number of self-reported headache days per month (28 days) for the month prior to starting treatment was compared to the number of headache days per month (28 days) 6 months after initiation of therapy. RESULTS: Results revealed that the mean number of headache days in the month prior to treatment was 24.1 (22.0, 25.7). The mean number of headache days in the month post-treatment (6 months after the initiation of dual therapy with occipital blocks and Botox) was 12.9 (9.7, 16.4). The mean difference in the number of headache days from pre- to post-treatment (pre-treatment minus post-treatment) was 11.2 (8.2, 14.2). CONCLUSION: This study evaluated the effectiveness of using occipital blocks and Botox as dual therapy for reducing headache frequency for post 9/11 combat veterans with CM, occipital neuralgia, and a history of TBI or neck trauma. Results revealed a statistically significant reduction in the number of headache days per month after the dual therapy. There were multiple limitations to the study to include a small sample size, lack of a control group, self-reported headaches for only 1 month pre-and post-treatment, and no control for other interventions or events which may have influenced the outcome. There is a strong need for randomized, double blinded, placebo- controlled studies involving dual therapy in this population. This study, though small, may be helpful in stimulating additional studies and treatments in this veteran population.

Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks.

The occipital lobe contains a substantial part of the neural machinery involved in visual perception. Mutations in the LAMC3 gene have recently been shown to cause complex bilateral occipital cortical gyration abnormalities. However, to what extent these structural changes impact visual behavior is not known. We recorded responses for two screening test batteries targeting visual function (Leuven - Perceptual Organization Screening Test, Cortical Vision Screening Test) and measured eye fixation performance in a visual attention experiment from a patient with homozygous LAMC3 gene mutation. Using voxel-based morphometry (VBM) we quantitatively assessed the extent of structural changes brought on by the genetic mutation by comparing mean cortical curvature, cortical thickness, and gray matter volume in 34 cortical areas between patient and an age-, sex-, and education-matched control group. Anatomical connectivity between these cortical areas was investigated by a structural covariance analysis. Visual screening-, and behavioral results revealed that the patient's impairments were predominantly in visuo-spatial attention. Consistent with this, VBM and structural connectivity results revealed significant structural changes in cortical regions subserving attentional functions. We conclude that the LAMC3 gene mutation affects cortical areas beyond the occipital lobe and primarily those visual functions that involve heavily distributed networks - such as visuo-spatial attention.

Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly.

Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricles, to assess if calcarine sulcus can also be used for fetal ventriculomegaly diagnosis. We conducted a retrospective analysis of the magnetic resonance imaging (MRI) data from 45 subjects with isolated mild fetal ventriculomegaly (IMVM). The calcarine sulcus development was divided into three categories based on the depth; Grade 1 (undeveloped), Grade 2 (underdeveloped), and Grade 3 (fully developed), and its correlation with fetal ventriculomegaly was analyzed based on Spearman's partial rank correlation test. Based on this analysis, the width of left and right lateral ventricles showed significant downward trend with the calcarine sulcus maturation [undeveloped (Left 13.88 ± 2.70 mm, Right 14.27 ± 3.13 mm) â†’ underdeveloped (Left 12.95 ± 1.93 mm, Right 11.93 ± 2.24 mm) â†’ fully developed (Left 11.06 ± 2.10 mm, Right 10.42 ± 2.10 mm)] (FLeft  = 5.12, P = 0.01; FRight  = 10.72, P = 1.73 × 10-4 ). In addition, significant correlations were also observed between the width of the lateral ventricles and the maturity of the calcarine sulcus (Spearman's rank correlation coefficient; -0.47 for the left lateral ventricles and -0.56 for the right, both P < 0.001). Overall, our data indicated a negative correlation between the fetal morphological development of calcarine sulcus and the width of lateral ventricles in subjects having isolated fetal ventriculomegaly.

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.

Yis U, Dixit V, Isikay S, Karakaya M, Baydan F, Diniz G, Polat I, Hiz-Kurul S, Çirak S. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2. Turk J Pediatr 2017; 59: 338-341. Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.

Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure.

After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. The ventral part is infolded to become the insula. The frontal and temporal lips of the Sylvian fissure, as well as the insula, all derive from the ventral margin of the primitive telencephalon, hence may be influenced by genetic mutations with a ventrodorsal gradient of expression. The telencephalic flexure also contributes to a shift of the hippocampus from a dorsal to a ventral position, the early rostral pole of the hippocampus becoming caudal and dorsal becoming ventral. The occipital horn is the most recent recess of the lateral ventricle, hence most vulnerable to anatomic variations that affect the calcarine fissure. Many major malformations include lack of telencephalic flexure (holoprosencephaly, extreme micrencephaly) or dysplastic Sylvian fissure (lissencephalies, hemimegalencephaly, schizencephaly). Although fissures and sulci are genetically programmed, mechanical forces of growth and volume expansion are proposed to be mainly extrinsic (including ventricles) for fissures and intrinsic for sulci. In fetal hydrocephalus, the telencephalic flexure is less affected because ventricular dilatation occurs later in gestation. Flexures can be detected prenatally by ultrasound and fetal magnetic resonance imaging and should be described neuropathologically in cerebral malformations.

A case of cephalomelia discovered in a baby born in Niger.

INTRODUCTION: Subcutaneous tumors with extra limbs are very rare, and they are considered either as fetus in fetu or fetiform teratoma. CASE REPORT: We report here the case of a 6-day-old presenting a mass extending at the level of the occipital bone. This mass is developed in the extracranial region and contains two forelimbs including hands with digits. CT shows that the squamous part of the occipital bone is involved with several defects through which a part of the cerebellum herniates. The boy was operated on and the tumor was removed. The herniated region of the cerebellum has also been removed. After surgery, the boy develops normally. CONCLUSION: This type of tumor is extremely rare and is only the second case that has been reported at this exact location. This could be the so-called céphalomélie described by Isidore Geoffroy Saint-Hilaire in a duck in his famous Treatise of Teratology (1836). The cause of this malformation is still a matter for debate.

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.

Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast growth factor receptor 3) mutations. Neuropathological findings of temporal lobe dysplasia are found in thanatophoric dysplasia, and temporal and occipital lobe abnormalities have been described recently in brain imaging studies of children with hypochondroplasia. We describe twins discordant for achondroplasia, in one of whom the prenatal diagnosis was based on ultrasound and fetal MRI documentation of temporal and occipital lobe abnormalities characteristic of hypochondroplasia, in addition to the finding of short long bones. Despite the intracranial findings suggestive of hypochondroplasia, achondroplasia was confirmed following postnatal clinical and genetic testing. These intracranial abnormalities have not been previously described in a fetus with achondroplasia.

Higroma quístico - Diagnóstico pré-natal, prognóstico obstétrico e pediátrico / Cystic hygroma - Prenatal diagnosis, obstetric and pediatric outcome

Introdução: O higroma quístico (HQ) é uma malformação congénita diagnosticada durante a gravidez pela demonstração ecográfica de uma estrutura quística na região occipitocervical. Pode surgir isolado ou em associação a anomalias cromossómicas, malformações fetais ou síndromes genéticas, com prognóstico global reservado. O objetivo deste trabalho foi avaliar a conduta obstétrica e os resultados pediátricos dos sobreviventes com higroma quístico (HQ). Material e métodos: Estudo retrospetivo descritivo de 224 grávidas com HQ fetal, diagnosticadas ou referenciadas ao Centro de Diagnóstico Pré-Natal da nossa instituição, entre janeiro de 1991 e julho de 2011. Resultados: A idade gestacional média ao diagnóstico foi de 13 semanas, 77,7% dos casos diagnosticados no primeiro trimestre. Ecograficamente, 66 casos estavam associados a hidrópsia. O cariótipo fetal foi determinado em 206 casos, com deteção de 107 anomalias cromossómicas. O cariótipo foi normal em 99 casos, tendo sido detetados 12 casos de doenças genéticas e 18 de malformações estruturais fetais. A interrupção médica de gravidez foi a opção de 111 pacientes, registaram-se 39 casos de morte in utero e 61 nados-vivos. O tempo médio de seguimento dos sobreviventes foi de 75 meses, tendo-se verificado um desenvolvimento psicomotor adequado em 30 casos. Conclusão: Perante o diagnóstico de HQ, é essencial esclarecer a etiologia, de modo a definir o prognóstico e orientar corretamente a gravidez. Existe uma forte correlação entre o diagnóstico de HQ com aneuploidia fetal, conferindo-lhe pior prognóstico em comparação com os casos de HQ sem evidência de alterações cromossómicas ou malformações estruturais fetais, geralmente com bons resultados neonatais e pediátricos (AU)

Introduction: Fetal cystic hygroma (CH) is a congenital malformation prenatally diagnosed by the demonstration of a cystic structure in the occipitocervical region on ultrasound. It may appear isolated or in association with chromosomal abnormalities, fetal malformations or genetic syndromes, with a poor overall prognosis. The main purpose of this work was the evaluation of the obstetric management and paediatric outcome for the survivors of CH. Material and method: Retrospective analysis of 224 pregnant women with fetal CH, diagnosed or referred to our prenatal diagnosis centre, from January 1991 to July 2011. Results: The mean gestational age at diagnosis was 13 weeks and 77.7% of cases were diagnosed in the first trimester. On ultrasound, 66 cases were associated with hydrops. Fetal karyotype was obtained in 206 cases, and chromosomal abnormalities were found in 107. Fetal karyotype was normal in 99 cases, detected 12 cases of genetic diseases and 18 cases of fetal malformations. Elective pregnancy termination was undertaken by 111 patients. There were 39 cases of spontaneous fetal demise and 61 live births. The mean follow-up of survivors was 75 months, and normal paediatric outcome was confirmed in 30 cases. Conclusion: It is essential to clarify the underlying aetiology of CH in order to establish a prognosis and counselling. There is a strong association with fetal aneuploidy and significantly worse outcome in contrast in cases without evidence of chromosomal or structural abnormalities, most of them carrying good prognosis (AU)

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Duration of untreated psychosis is associated with temporal and occipitotemporal gray matter volume decrease in treatment naïve schizophrenia.

BACKGROUND: Long duration of untreated psychosis (DUP) is associated with poor treatment outcome. Whether or not DUP is related to brain gray matter volume abnormalities in antipsychotic medication treatment naïve schizophrenia remains unclear at this time. METHODS: Patients with treatment-naïve schizophrenia and healthy controls went through brain scan using high resolution Magnetic Resonance Imaging. DUP was evaluated using the Nottingham Onset Schedule (NOS), and dichotomized as short DUP (≤ 26 weeks) or long DUP (>26 weeks). Voxel-based methods were used for volumetric measure in the brain. RESULTS: Fifty-seven patients (27 short DUP and 30 long DUP) and 30 healthy controls were included in the analysis. There were significant gray matter volumetric differences among the 3 groups in bilateral parahippocampus gyri, right superior temporal gyrus, left fusiform gyrus, left middle temporal gyrus, and right superior frontal gyrus (p's<0.01). Compared with healthy controls, the long DUP group had significantly smaller volume in all these regions (p's <0.05). Compared with the short-DUP group, the long-DUP group had significantly smaller volume in right superior temporal gyrus, left fusiform gyrus, and left middle temporal gyrus (p's<0.01). CONCLUSION: Our findings suggest that DUP is associated with temporal and occipitotemporal gray matter volume decrease in treatment naïve schizophrenia. The brain structural changes in untreated psychosis might contribute to poor treatment response and long-term prognosis in this patient population.

Chiari III Malformation: a rare case with review of literature.

The Chiari Malformation is a neural tube defect involving the posterior cranial fossa and the hind brain, characterized by herniation of the posterior fossa contents below the level of the foramen magnum. Four types were described by Hans Chiari in the late 19th century. Of these, Type III is exceedingly rare. We report the case of Chiari III malformation in a 24-week fetus by the integration of radiologic and autopsy findings which was conspicuous by the absence of high cervical spina bifida and the presence of occipital squama defect.

Recessive LAMC3 mutations cause malformations of occipital cortical development.

The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin γ3 gene, leading to an immediate premature termination codon. In two other affected individuals with nearly identical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation. In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment. LAMC3 expression peaks between late gestation and late infancy, paralleling the expression of molecules that are important in dendritogenesis and synapse formation. The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations.

Imaging diagnosis--cerebellar displacement and spina bifida in a calf.

Herein, we describe a calf affected by cerebellar displacement and spina bifida, diagnosed by ultrasonography. A full-term, newborn female calf with paralysis of the pelvic limbs was examined. The dorsal skin at the sacral level contained a circular defect; this was subsequently diagnosed as spina bifida. Cerebellar displacement into the cervical vertebral canal was suspected because of the frequent association of these anomalies. Spinal ultrasound examination carried out at the level of the craniocervical junction allowed identification of herniation of the cerebellum, the caudal part of brain stem, and part of an occipital lobe into the cervical vertebral canal. The ultrasonographic diagnosis was confirmed as post mortem examination. This type of brain defect, associated with spina bifida, resembles the Arnold-Chiari malformation in humans.

Diagnóstico prenatal de un hemangioma occipital de rápida involución / Prenatal diagnosis of a occipital rapidly involuting hemangioma

El hemangioma occipital es, tras los linfangiomas, el tipode tumoración más frecuente en cabeza y cuello. Su diagnósticoecográfico suele establecerse en el tercer trimestre o finalesdel segundo trimestre siendo útil la resonancia magnética(RM) prenatal para la confirmación del mismo. Posnatalmente,la gran mayoría de los casos regresan espontáneamente si bienpueden persistir y complicarse requiriendo exéresis quirúrgica.Presentamos el caso del hemangioma fetal de involuciónrápida (RICH, Rapidly Involuting Congenital Hemangioma) anivel occipital diagnosticado por ecografía en el tercer trimestrede gestación así como una revisión de la literaturadestacando los puntos clave para su diagnóstico diferencial,manejo prenatal, conducta obstétrica y tratamiento posnatal(AU)

Occipital hemangioma is one of the most frequentfetal head and neck tumors, second only to lymphangiomas.Diagnose is usually established in the third or inthe late second trimester of pregnancy. Prenatal MRIallowsdiagnosis confirmation. Vast majority of fetal hemangiomasregress spontaneously in the first year afterdelivery. However, persistence is a possibility, and theymight present complications, such as bleeding or ulcerations,in which case surgical treatment is warranted.We report a case of rapidly involuting congenitalhemangioma (RICH) in the occipital region of fetal craniumdiagnosed on a routine third timester fetal ultrasoundscan. We also present a review of available literature,outlining the key points to differential diagnosis,prenatal, obstetric and postnatal management(AU)

White matter abnormalities and executive function in children with very low birth weight.

The aim of this study was to investigate any structural-functional relationship between changes in white matter microstructure seen on diffusion tensor imaging and results of an executive function test in adolescents with very low birth weight (VLBW). Thirty-four VLBW adolescents were examined at 15 years of age. Executive function was assessed by the Wisconsin Card Sorting Test. Diffusion tensor imaging scans were performed at 1.5 T for calculation of individual fractional anisotropy maps. Through a voxel-wise regression analysis, correlations were found between the results on Wisconsin Card Sorting Test and fractional anisotropy values in the left cingulum and both inferior fronto-occipital fascicles. We speculate that impairments in executive function in VLBW children may be influenced by disturbed connectivity between posterior brain regions and the prefrontal cortex.