Vascular Cerebral Anomalies

2018 ◽  
pp. 226-230.e1
Author(s):  
Amar Bhide
Keyword(s):  
Cerebral Anomalies

scholarly journals Cilia in hereditary cerebral anomalies

2019 ◽  
Vol 111 (9) ◽  
pp. 217-231 ◽  
Author(s):  
Sophie Thomas ◽  
Lucile Boutaud ◽  
Madeline Louise Reilly ◽  
Alexandre Benmerah
Keyword(s):  
Cerebral Anomalies

Anatomical and embryological considerations in the repair of a large vertex cephalocele

1999 ◽  
Vol 90 (3) ◽  
pp. 537-541 ◽  
Author(s):  
Eelco Hoving ◽  
Susan Blaser ◽  
Edmond Kelly ◽  
James T. Rutka
Keyword(s):  
Magnetic Resonance ◽  
Venous Drainage ◽  
Cyst Formation ◽  
Preoperative Imaging ◽  
Drainage Pattern ◽  
Surface Ectoderm ◽  
Content Type ◽  
Sagittal Sinus ◽  
Interhemispheric Fissure ◽  
Cerebral Anomalies

✓ The case of a neonate with a large vertex cephalocele is presented. The anatomical features of this anomaly were evaluated by means of magnetic resonance imaging and magnetic resonance angiography. Fusion of the thalami, dysgenesis of the corpus callosum, and failure of adequate formation of the interhemispheric fissure were characteristics of the major cerebral anomalies associated with the cephalocele. The absence of a falx in the midline, a split configuration of the superior sagittal sinus, and a dysgenetic tentorium with a concomitant abnormal venous drainage pattern were found in association with a large dorsal cyst. Repair of the anomaly was undertaken on the 3rd postnatal day. A cerebrospinal fluid shunt was required to treat hydrocephalus on Day 30. The child is well at age 3 years, but with significant developmental delay. The pathogenesis of this vertex cephalocele relates to semilobar holoprosencephaly and dorsal cyst formation. In addition, a disturbance in the separation of the diencephalic portion of the neural tube from the surface ectoderm or skin during the final phases of neurulation had occurred to help create the large cephalocele. Detailed preoperative imaging studies and awareness of the embryology and anatomy of this lesion facilitated the repair of the cephalocele. The prognosis of the child is determined not only by the presence of hydrocephalus, but also by the number of associated major cerebral anomalies. Options for treatment are discussed.

Posterior Fossa Malformation Associated With Cerebral Anomalies

2011 ◽  
Vol 22 (6) ◽  
pp. 295-302 ◽  
Author(s):  
Débora Bertholdo ◽  
Arnolfo de Carvalho Neto ◽  
Mauricio Castillo
Keyword(s):  
Posterior Fossa ◽  
Cerebral Anomalies ◽  
Posterior Fossa Malformation

scholarly journals Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Erin Conboy ◽  
Filippo Vairo ◽  
Darrel Waggoner ◽  
Carole Ober ◽  
Soma Das ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
Brain Mri ◽  
Craniofacial Anomalies ◽  
Juvenile Onset ◽  
Caudate Nuclei ◽  
The Third ◽  
Cerebral Anomalies ◽  
The Brain ◽  
Congenital Malformation Syndrome

ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.

scholarly journals P02.07: Termination of pregnancy for midline cerebral anomalies

2017 ◽  
Vol 50 ◽  
pp. 159-160
Author(s):  
W. Dendas ◽  
B. De Keersmaecker ◽  
M. Aertsen ◽  
W. Develter ◽  
L. De Catte
Keyword(s):  
Termination Of Pregnancy ◽  
Cerebral Anomalies
Sign in / Sign up

Export Citation Format

Share Document