Vermian

BACKGROUND: Pial arteriovenous fistulas (pAVFs) are rare vascular malformations characterized by high-flow arteriovenous shunting involving a cortical arterial supply directly connecting to venous drainage without an intermediate nidus. Dural arteriovenous fistulas (dAVFs) can infrequently involve additional pial feeders which can introduce higher flow shunting and increase the associated treatment risk. In the posterior fossa, arteriovenous fistula (AVF) angioarchitecture tends to be particularly complex, involving either multiple arterial feeders-sometimes from both dural and pial origins-or small caliber vessels that are difficult to catheterize and tend to be intimately involved with functionally critical brainstem or upper cervical cord structures...

BACKGROUND: Pilocytic astrocytoma (PA) is a benign glial tumor predominately seen in pediatrics and early adolescence with associated overall good outcomes. Very few cases of elderly PA have been reported in the literature, and they are known to display unique anatomic, histologic, and genetic peculiarities distinct from pediatric disease. We report a rare case of vermian PA in an octogenarian with recurrent spontaneous intratumoral hemorrhage as a presenting symptom. Furthermore, a review of the literature on the peculiarities of PA in the elderly will be discussed...

The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC), Riyadh. All fetuses diagnosed by prenatal ultrasound with PFA from 2017 to 2021 in KAMC were analyzed retrospectively. PFA included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC), and isolated vermian hypoplasia (VH). The 65 cases of PFA were 41.5% DWM, 46.2% MCM, 10.8% VH, and 1.5% BPC. The annual incidence rates were 2...

OBJECTIVE: To evaluate corpus callosum (CC) size in fetuses with malformations of cortical development (MCD) and to explore the diagnostic value of three CC length (CCL) ratios in identifying cortical abnormalities. METHODS: This is a single-center retrospective study in singleton fetuses at 20-37 weeks of gestation between April 2017 and August 2022. The midsagittal plane of the fetal brain was obtained and evaluated for the following variables: length, height, area of the corpus callosum, and relevant markers, including the ratios of corpus callosum length to internal cranial occipitofrontal dimension (CCL/ICOFD), corpus callosum length to femur length (CCL/FL), and corpus callosum length to cerebellar vermian diameter (CCL/VD)...

INTRODUCTION: Growth-restricted fetuses may have changes in their neuroanatomical structures that can be detected in prenatal imaging. We aim to compare corpus callosal length (CCL) and cerebellar vermian height (CVH) measurements between fetal growth restriction (FGR) and control fetuses and to correlate them with cerebral Doppler velocimetry in growth restricted fetuses. METHODS: This was a prospective cohort of FGR after 20 weeks of gestation with ultrasound measurements of CCL and CVH...

The prominent retrocerebellar cerebrospinal fluid (CSF) space can be frequently encountered on paediatric neuroimaging studies. In cases involving abnormal vermian development where imaging does not align with the established criteria of Dandy-Walker malformation (DWM), the term "Dandy-Walker variant or continuum" has been historically employed to describe the aberrant posterior fossa development. Instead, the emphasis is on a more elaborate description of the findings in the posterior fossa. Moreover, combining the findings in the supratentorial brain can occasionally predict certain neurogenetic disorders that mimic Dandy-Walker phenotype...

UNLABELLED: Dandy-Walker syndrome is a rare congenital central nervous system malformation. Dandy-Walker variant is characterised by cerebellar vermian hypoplasia, cystic fourth ventricular dilatation, and normal posterior fossa volume. Various prenatal tests such as ultrasound, fetal magnetic resonance imaging, and amniocentesis can help diagnose Dandy-Walker syndrome. Here, we report a case of the Dandy-Walker variant with meningitis in a neonate admitted to the neonatal intensive care unit due to multiple petechiae on the anterior abdominal wall, accompanied by peripheral cyanosis at the time of birth...

The time course of socio-communicative disturbances in children after posterior fossa tumor resection is variable in clinical reports, and its assessment may help to understand the role of the cerebellum in the pathogenesis of socio-communicative disorders and improve rehabilitation plans. We report the 3-year cognitive-behavioral follow-up of a female patient (LZ) who underwent surgical ablation of the vermis due to medulloblastoma at age 9. LZ developed a severe post-operative Cerebellar Cognitive Affective Syndrome (CCAS) with cognitive-executive dysfunctions and behavioral alterations resembling an Autism Spectrum Disorder (ASD)-like syndrome...

Dandy-Walker malformation or syndrome is a rare congenital deformity in which the cerebellar vermis is hypoplastic and upwardly rotated, the fourth ventricle enlarged, and the posterior fossa cystically dilated. It represents the most common type of posterior fossa malformations that are usually diagnosed before the age of one year old. We present a seven-year-old boy with a history of neonatal hypotonia and delayed walking, who presented with speech and language difficulties. His physical examination and cognitive tests were unremarkable...

INTRODUCTION AND IMPORTANCE: Dandy-Walker malformation is a rare congenital anomaly of the brain that mainly affects the cerebellum region. It is characterised by abnormal dilatation of the fourth ventricle of the brain and partial or total absence of the cerebellar vermis. This malformation may also be accompanied by other anomalies of the brain. Ante-natal diagnosis is becoming increasingly frequent given the performance of medical imaging, in particular ante-natal ultrasound and MRI...

AIM: Cerebellar mutism syndrome (CMS) is a morbid complication of posterior fossa surgery in children. This review focuses on the current understanding of pathophysiology in the white matter tracts (WMT) using diffusion tensor imaging (DTI). MATERIAL AND METHODS: A series of 38 patients operated on for posterior fossa tumors in our institute between December 2019 till May 2021 were evaluated neurologically along with characteristics of mutism and DTI imaging (fractional anisotropy) in preoperative and postoperative periods...

OBJECTIVES: Our objectives were: (1) to assess the visualization rate of the choroid bar in a consecutive series of 306 first trimester scans; (2) to verify - in this cohort of fetuses - the normalcy of the posterior fossa later in pregnancy; (3) to confirm the non-visualization of the choroid bar in a retrospective series of fetuses with posterior fossa malformations. METHODS: The study include a prospective and a retrospective series. The former includes 306 fetuses undergoing routine obstetric ultrasound at our Unit both in the first and the second trimester over the last 6 months, the latter includes 12 cases of posterior fossa malformations...

INTRODUCTION: Dandy-Walker malformation is a rare congenital brain defect characterized by vermian agenesia with cystic dilatation of the fourth ventricle, and posterior fossa enlargement. The etiology is still poorly understood but is presupposed to be multifactorial, infrequently caused by intracranial hemorrhage. We describe a case of male newborn known to have Dandy-Walker malformation associated with subarachnoid bleeding after the delivery, which is a quiet rare presentation only discussed in a few literatures before...

BACKGROUND: Magnetic Resonance (MR) imaging is key for investigation of suspected newborn brain abnormalities. Access is limited in low-resource settings and challenging in infants needing intensive care. Portable ultralow field (ULF) MRI is showing promise in bedside adult brain imaging. Use in infants and children has been limited as brain-tissue composition differences necessitate sequence modification. The aim of this study was to develop neonatal-specific ULF structural sequences and test these across a range of gestational maturities and pathologies to inform future validation studies...

BACKGROUND: Neurooculocardiogenitourinary syndrome (NOCGUS), a multisystemic syndrome characterized by motor disorder, intellectual disability, seizures, abnormal brain structure, ocular diseases, and cardiac diseases, has been reported with missense variant of WD repeat-containing protein 37 (WDR37) in humans. This report aimed to identify the cause of NOCGUS in an affected patient. CASE PRESENTATION: We identified a de novo intronic 4-bp deletion of WDR37, c.727-27_727-24del, which were predicted to cause abnormal splicing by SpliceAI, in the patient with NOCGUS...

Germline pathogenic variants in isocitrate dehydrogenase 1 (IDH1) can lead to a rare neurodevelopmental disorder called metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, including severe skeletal and cerebral anomalies. To the best of our knowledge, no prenatal case of an IDH1 pathogenic variant has been reported in literature. Somatic sequence variants in IDH1/2 genes are described in distinct cancers, premalignant diseases and rare inherited metabolic disorders. Amniocentesis and further genetic testing including trio exome sequencing were performed due to suspicious findings on a second trimester routine prenatal ultrasound examination...

Spinocerebellar ataxia 34 (SCA34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) gene. The ELOVL4 enzyme catalyzes the biosynthesis of both very long chain saturated fatty acids (VLC-SFA) and very long chain polyunsaturated fatty acids (VLC-PUFA) that are important for neuronal, reproductive, and skin function. Several variants in ELOVL4 have been shown to cause different tissue-specific disorders including SCA34 with or without Erythrokeratodermia Variabilis (EKV), a skin condition characterized by dry, scaly skin, Autosomal Dominant Stargardt-Like Macular Dystrophy (STGD3), and seizures associated with neuro-ichthyotic disorders...

BACKGROUND: Autism spectrum disorder is a major neurodevelopmental disorder. Temtamy syndrome is a rare syndromic intellectual developmental disorder that presents with global developmental delay, autism, seizures, and agenesis/dysgenesis of the corpus callosum. METHODS: We report a case of a male child who presented with global developmental delay, and autism. Additional clinical features in the child were prominent eyes, long palpebral fissures with eversion of lateral third of the lower eyelid, hypoplastic nipples, and persistent fetal fingertip pads...

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In fetal alcohol spectrum disorders (FASD), brain growth deficiency is a hallmark of subjects both with fetal alcohol syndrome (FAS) and with non-syndromic FASD (NS-FASD, i.e., those without specific diagnostic features). However, although the cerebellum was suggested to be more severely undersized than the rest of the brain, it has not yet been given a specific place in the FASD diagnostic criteria where neuroanatomical features still count for little if anything in diagnostic specificity. We applied a combination of cerebellar segmentation tools on a 1...