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Aim: To report the earliest diagnosis of Vici syndrome in a three-week-old Omani girl., Methods: A three-week-old baby girl with blond hair and agenesis of the corpus callosum was born to consanguineous parents. An older sibling with similar findings had died at the age of six months with recurrent seizures and aspiration pneumonia without a diagnosis of the underlying systemic condition. After a standard ophthalmic and comprehensive systemic evaluation, full sequencing of the EPG5 gene was carried out., Results: The findings of bilateral anterior polar cataracts and oculocutaneous albinism in the child with agenesis of corpus callosum raised a suspicion of Vici syndrome. Immunology, neurology, cardiology, and genetic consultations were requested and revealed the presence of immunodeficiency, psychomotor retardation, and hypertrophic cardiomyopathy. Full sequencing of the EPG5 gene led to the detection of a homozygous c.6084 G > A (Trp2028Ter) mutation, confirming the diagnosis of Vici syndrome. Parental heterozygosity was confirmed. On follow-up, progressive microcephaly, failure to thrive, and significant developmental delay were noted, and a clinical decision not to resuscitate was made at the age of 22 months., Conclusions: We report the earliest diagnosis of Vici syndrome in the literature. Ophthalmic findings are a cardinal feature of this condition. The diagnosis should be considered in infants with hallmark features of oculocutaneous albinism, cataracts, and agenesis of the corpus callosum. Vici syndrome has a very poor prognosis due to progressive neuroregression superimposed on the neurodevelopmental anomaly.

Objective: This study aimed to discuss the diagnostic value of Omniview technique on the agenesis of corpus callosum. Methods: A total of 43 pregnant women with no obvious structural abnormality and eight pregnant women who diagnosed with agenesis of corpus callosum (ACC) were included in this study. The 2D ultrasonography and the 3D ultrasonography Omniview technique were used to carry out ultrasonic examination on 43 normal fetuses and eight fetuses with agenesis of corpus callosum (as verified through magnetic resonance), respectively. Results: The Omniview technique visually displayed the median sagittal plane of the fetus. The ROC curve of Omniview (0.999) was much higher than that of 2D ultrasonography (0.817). Rating of ACC and normal fetuses showed that the diagnostic efficiency of 3D ultrasonography Omniview technique was much higher than 2D ultrasonography. Conclusion: 3D ultrasonography Omniview technique has certain advantage in the diagnosis of agenesis of corpus callosum, and is of great significance in the prenatal screening of callosum.

Corpus callosum agenesis (CCA) is a clinical condition accompanied by various aneuploidy and genetic syndromes. We identified the development of the corpus callosum (CC) in 278 patients before 18 weeks of gestational age by visualising the pericallosal artery (PCA) in the callosal sulcus and changes in the lengths and ratios of the midbrain (MB) and falx (F), which suggested elevation of the third ventricle and thalamus due to CCA in the first trimester. We succeeded in visualising the path of the PCA in 273 patients. As expected, we observed an increase in the lengths of the MB and F throughout the pregnancies. The MB:F ratio was 0.5-0.6, and it was independent of gestational age. In all 278 patients, the MB:F ratio was <0.6 (95th percentile = 0.79). We observed the presence of the CC during anatomical screening at gestational weeks 18-24. Visualisation of the PCA path (98% sensitivity) and calculation of the MB:F ratio <95th percentile (0.79-100% sensitivity) had very high sensitivity that indirectly confirmed the presence of the CC in the first trimester of pregnancy. Impact statement What is already known on this subject: After reading the articles for detecting the absence of corpus callosum (CC) at first trimester with midbrain (MB) and falx (F) measurement by Lachmann et al. ( 2013 ) and visualising pericallosal artery (PCA) as an indirect sign of CC agenesis by Pati et al. ( 2012 ), we aimed to have a look for our records visualising PCA in callosal sulcus and measure MB-F, as well as their ratios for an indirect sign of 'presence' of CC at first trimester. What the results of this study add: In recent literature, it is not possible to find many articles suggesting the presence of CC between 11 and 13 weeks of gestation. Díaz-Guerrero et al. ( 2013 ) and Pati et al. ( 2012 ) has researched visualising PCA path. Lachmann et al. ( 2013 ) reported an article for MB and F measurements in early suspicion of CC agenesis. Our study will be the first article in visualising PCA path and measuring MB-F lengths as well as their ratios for 'presence' of CC with high sensitivity rates (98% and 100%). What are the implications of these findings for clinical practice and/or further research: This study encourages clinicians visualising PCA path and measure MB-F lengths when they will try to visualise repetitive times and see how it is an easy procedure when you get used to it.

Objectives: To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC., Methods: The subjects of observation are 20 fetuses from a total of 2238 autopsies carried out during a period of three years (2006-2009) in Tunis., Results: The associated abnormalities are hydrocephalus, cerebellar hypoplasia, agenesis of vermis cerebelli, polymicrogyria and lissencephaly. Sixteen of the cases (80%) are syndromic: Trisomy 13,18,21 (5,1,2 fetuses respectively) and Thanatophoric dysplasia, Fetal akinesia syndrome, Dandy-Walker Malformation and the Association VACTERL are represented by two cases each., Conclusion: The prenatal diagnosis of ACC must be the result of a multidisciplinary approach. The phenotype of the XLAG syndrome creates an interest to study asymptomatic patients with ACC, especially when the anomaly is detected prenatally.

Background: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic features., Methods: Ophthalmologic and neuro-ophthalmologic examination; neuroimaging; conventional karyotyping; and array comparative genomic hybridization (CGH)., Results: The proband was the only affected child of a non-consanguineous family. At birth she was noted to have facial dysmorphism including telecanthus, low set ears, prominent nares, and an everted lower lip. She had an accommodative esotropia with otherwise normal globes, optic nerves, retinae, and orbits. She also had delayed motor milestones and mild mental retardation associated with agenesis of the corpus callosum. Both karyotyping and array CGH documented mosaic partial trisomy of chromosome 8 that included all of the "q" arm and part of the proximal "p" arm., Conclusions: This girl had a number of the classic features of mosaic trisomy 8, including an accommodative esotropia with none of the other ocular and orbital anomalies described in patients with mosaic trisomy 8. This report constitutes an initial effort to create a virtual database of patients with mosaic chromosome 8 in which careful phenotype-genotype correlation employing high resolution array CGH may help identify clues regarding the genetic etiology of ophthalmologic features of this syndrome.

Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations. We herein describe a case of an 8-month-old male child with features suggestive of Delleman syndrome along with a rare congenital lid anomaly - an accessory palpebral aperture, not reported so far to the best of our knowledge.

Purpose: To report the neuro-ophthalmologic findings in four patients from the same family with cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ)2 associated with quadrupedal locomotion., Method: A case series., Results: All four patients carry the private missense mutation, WDR81 p.P856L. The brain Magnetic Resonance Imaging (MRI) of these patients revealed morphological abnormalities including mild hypoplasia of the corpus callosum, and atrophy of superior, middle, and inferior peduncles of the cerebellum. All patients had down-beat nystagmus, while two male patients additionally had bilateral temporal disc pallor along with ring-shaped macular atrophy., Conclusions: The neuro-ophthalmic examination in CAMRQ2 revealed downbeat nystagmus in all patients, and temporal disc pallor and macular atrophy in two patients. It remains to be determined whether these findings are consistent in other forms of CAMRQ with mutations in VLDLR or CA8.