Dandy-Walker malformation
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Dandy-Walker malformation
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Dandy-Walker malformation
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Which of the following is the most likely diagnosis?
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Brittany Norton, MFA
Evan Debevec-McKenney
Tanner Marshall, MS
Dandy-Walker malformation, first described by Dr. Walter Dandy and Dr. Arthur Walker, is a congenital brain defect where there’s a cystic malformation in the cerebellum that blocks cerebrospinal fluid from exiting the brain.
This results in increased intracranial pressure and can affect the cerebellum’s ability to control motor skills like walking.
The cerebellum, or "little brain", sits just below the main part of the brain and it’s divided at the midline into two hemispheres by a short worm-like structure called the vermis.
The cerebellum is contained within the back of the skull, in an area known as the posterior fossa, and it sits above the foramen magnum, an opening at the base of the skull through which the spinal cord enters.
The cerebellum controls balance and posture, and helps to initiate as well as fine-tune voluntary motor activity - think about the fancy finger work of a piano player or the vocal cords of a singer - that’s the cerebellum in action.
Now, within the brain there are also four interconnected cavities called ventricles, each of which create and help circulate cerebrospinal fluid.
Highest up, are two C-shaped lateral ventricles that lie deep in each cerebral hemisphere.
The two lateral ventricles drain their cerebrospinal fluid into the third ventricle, which is a narrow, funnel-shaped, cavity at the center of the brain.
The third ventricle makes a bit more cerebrospinal fluid and then sends all of the cerebrospinal fluid to the fourth ventricle via the cerebral aqueduct.
Summary
Dandy-Walker malformation (DWM) is a congenital brain defect in which the 4th ventricle fails to close. It is characterized with a cysts in the 4th ventricle, hypoplasia of the cerebellar vermis, and enlargement of the posterior cranial fossa. This condition results in hydrocephalus, increased intracranial pressure, and a characteristic "dandy walker" appearance on neuroimaging.
Symptoms of DWM vary depending on the degree of cerebellar hypoplasia. Patients may experience delayed milestones, hypotonia, ataxia, vomiting, and seizures. Hydrocephalus can cause enlargement of the head (macrocephaly) and bulging fontanelles.
Sources
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
- "CURRENT Medical Diagnosis and Treatment 2020" McGraw Hill Professional (2019)
- "The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports" Journal of Child Neurology (2017)
- "Hydrocephalus in Dandy–Walker malformation" Child's Nervous System (2011)
- "Dandy-Walker malformation: prenatal diagnosis and prognosis" Child's Nervous System (2003)
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