Joubert Syndrome

What is Joubert Syndrome?

Joubert syndrome is a rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis.  What is the Pathology of Joubert Syndrome?  Etiology: The cause of Joubert syndrome is an…
Dandy-Walker Malformation

What is Dandy-Walker Malformation?

Dandy-Walker malformation is a rare congenital brain malformation in which the cerebellar vermis does not completely form. What is the Pathology of Dandy-Walker Malformation? Etiology: The cause of Dandy-Walker malformation is the disruption of embryonic development that affects the formation…
Arnold-Chiari Malformation

What is Arnold-Chiari Malformation?

Arnold-Chiari malformation is a group of deformities of the posterior fossa and cerebellum, pons, and medulla oblongata.  What is the Pathology of Arnold-Chiari Malformation? Etiology: The cause of Arnold Chiari malformation is primary or secondary. Primary cause includes primary congenital…
Chiari Type II Malformation

What is Chiari Type II Malformation?

Chiari type II malformation is a relatively common congenital malformation of the spine and posterior fossa characterized by myelomeningocele and a small posterior fossa with the descent of the brainstem, vermis, and cerebellar tonsils. What is the Pathology of Chiari…
Chiari Type I Malformation

What is Chiari Type I Malformation?

Chiari type I malformation is an abnormality in which the cerebellum bulges through a normal opening in the skull where it joins the spinal canal. This puts pressure on parts of the brain and spinal cord, and may cause mild…
Posterior Fossa Anomalies

What are Posterior Fossa Anomalies?

Posterior fossa anomalies congenital abnormalities that represent a wide variety of disorders of malformations and disruptions.  Examples of posterior fossa anomalies include: Chiari type I malformation Chiari type II malformation Arnold-Chiari malformation Dandy-Walker malformation Joubert syndrome
Forebrain Anomalies

What are Forebrain Anomalies?

Forebrain anomalies are malformations of the forebrain most commonly due to chromosomal abnormalities, fetal alcohol syndrome, and HIV-1 infection acquired in vitro. Examples of forebrain anomalies include: Agenesis of the corpus callosumHoloprosencephaly Arrhinencephaly Microencephaly MacroencephalyLissencephaly Polymicrogyria Neuronal heterotopias What is Agenesis of the Corpus Callosum? …
Encephalocele

What is Encephalocele?

Encephalocele is a sac like protrusion of the brain and covering membranes through an opening in the skull. Encephalocele happens when the neural tube fails to close during pregnancy. Encephalocele can lead to the formation of a groove on the…
Myelomeningocele

What is Myelomeningocele?

Myelomeningocele is a type of spina bifida, in which the bones of the spine do not completely form. This results in an incomplete spinal canal through which the meninges and spinal cord protrude from the back. What is the Pathology…
Spina Bifida

What is Spina Bifida?

Spina bifida is a type of birth defect in which the spine and membranes around the spinal cord fail to close properly.  The lower back is the most common site of spina bifida.  The two most common types of spina…