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Dandy Walker Malformation

Important
It is possible that the main title of the report Dandy Walker Malformation is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms

* Dandy-Walker Cyst
* Dandy-Walker Deformity
* Dandy-Walker Syndrome
* DWM
* Hydrocephalus, Internal, Dandy-Walker Type
* Hydrocephalus, Noncommunicating, Dandy-Walker Type
* Luschka-Magendie Foramina Atresia

Disorder Subdivisions

* None

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

* Hydrocephalus
* Arnold-Chiari Syndrome
* Walker-Warburg Syndrome
* Disorders Associated with Dandy-Walker Malformation
* Encephalocele
* Cleft Lip and Cleft Palate
* Spina Bifida
* Agenesis of the Corpus Callosum

General Discussion

Dandy-Walker Malformation is a rare malformation of the brain that is present at birth (congenital). It is characterized by an abnormally enlarged space at the back of the brain (cystic 4th ventricle) that interferes with the normal flow of cerebrospinal fluid through the openings between the ventricle and other parts of the brain (foramina of Magendia and Luschka). Excessive amounts of fluid accumulate around the brain and cause abnormally high pressure within the skull, swelling of the head (congenital hydrocephalus), and neurological impairment. Motor delays and learning problems may also occur. Dandy-Walker Malformation is a form of "Obstructive" or "Internal Noncommunicating Hydrocephalus," meaning that the normal flow of cerebrospinal fluid is blocked resulting in the widening of the ventricles.
Symptoms

Some of the symptoms of Dandy-Walker Malformation are related to the abnormal accumulation of fluid around the brain and increased pressure within the skull (hydrocephalus). Unusual physical features associated with this disorder may include the progressive enlargement of the head, a bulge at the back of the head (occiput), prominent veins on the skull, and/or a wide bulging forehead. Symptoms may include headaches, vomiting, irritability, weakness, convulsions, abnormal reflexes, abnormally slow breathing (bradypnea), abnormally slow pulse (bradycardia), and/or the inability to coordinate movement (ataxia).

Some children with Dandy-Walker Malformation also experience delays in motor (e.g., sitting and walking) and cognitive (e.g., speech and counting) milestones. Other symptoms may include impaired hearing, swelling of the optic nerve (papilledema), involuntary rhythmic movement of the eyes (nystagmus), and/or episodes of impaired vision. Severe learning problems may also occur in children with this disorder.

Causes

In most cases, the exact cause of Dandy-Walker Malformation is not known and may be due to the interaction of many different factors (multifactoral). The risk for recurrence in future offspring may be between 1 and 5 percent.

In some very rare cases, Dandy-Walker Malformation is thought to be inherited as an autosomal recessive trait.

The symptoms of Dandy-Walker Malformation develop due to a defect in early embryonic development (midline cerebellar embryogenesis) which results in the expansion of the 4th ventricle of the brain into other areas at the back of the brain (posterior fossa).

Affected Populations

Dandy-Walker Malformation is a very rare disorder that seems to affect more males than females. The symptoms typically appear during the newborn period.

Related Disorders

Symptoms of the following disorders can be similar to those of Dandy-Walker Malformation. Comparisons may be useful for a differential diagnosis:

Hydrocephalus is a condition in which abnormally widened (dilated) spaces in the brain (ventricles) inhibit the normal flow of the fluid that surrounds the brain and the spinal cord (cerebrospinal fluid). The fluid accumulates in the skull and puts pressure on the brain tissue. An abnormally enlarged head and an increase in pressure within the brain are frequent characteristics of Hydrocephalus. The symptoms of Hydrocephalus may include an unusually large head (cephalomegaly), a thin transparent scalp, a bulging forehead, and/or a downward gaze. Other symptoms may include convulsions, abnormal reflexes, a slowed heartbeat and respiratory rate, headache, and/or vomiting. (For more information on this disorder, choose "Hydrocephalus" as your search term in the Rare Disease Database.)

Arnold-Chiari Syndrome is a rare malformation of the brain that is present at birth. Abnormalities at the base of the brain may include the displacement of the lower portion of the brain (cerebellum) and/or brain stem through the opening at the back of the skull (foramen magnum). Some infants with this disorder may also have hydrocephalus. The symptoms of Arnold- Chiari Syndrome usually include vomiting, muscle weakness in the head and face, difficulty swallowing (dysphagia), and varying degrees of mental impairment. The arms and legs may also be paralyzed. Other symptoms may include involuntary rapid downward eye movements (downbeat nystagmus), dizziness, headache, double vision (diplopia), deafness, and/or the impaired ability to coordinate movement (ataxia). (For more information on this disorder, choose "Arnold-Chiari" as your search term in the Rare Disease Database.)

Walker-Warburg Syndrome (HARD Syndrome +/- E) is a very rare inherited disorder characterized by hydrocephalus, abnormally smooth brain tissue (agyria), retinal dysplasia, and in some cases protrusion of the brain through the skull (encephalocele). The most consistent features of this disorder are a lack of normal folds in the brain (lissencephaly), malformations of the back portion of the brain (cerebellum), abnormalities of the eyes, and the progressive degeneration and weakness of the voluntary muscles (congenital muscular dystrophy). Walker-Warburg Syndrome is also known as HARD Syndrome +/-E. (For more information on this disorder, choose "Walker-Warburg" as your search term in the Rare Disease Database.)

Dandy-Walker Malformation may also occur in association with other disorders including Pettigrew Syndrome (Dandy-Walker Malformation with mental retardation, basal ganglia disease, and seizures), Dandy-Walker-like Malformation with Atrioventricular Septal Defect (Ritscher-Schinzel Syndrome), Craniosynostosis, Sagittal with Dandy-Walker Malformation, Renal- Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst (Goldston Syndrome), Dandy-Walker Malformation with Polydactyly, and Meckel Syndrome.

The following disorders may be associated with Dandy-Walker Malformation as secondary characteristics. They are not necessary for a differential diagnosis:

Encephalocele is a rare birth defect in which an infant is born with a gap in the skull. Brain tissue and the membranes that cover the brain (meninges) protrude through this opening. An encephalocele is probably caused by the failure of the neural tube to close during the development of the fetus. When the encephalocele is not covered with skin, infection or swelling of the membranes covering the brain may occur (meningitis). Some infants with an encephalocele may develop hydrocephalus. (For more information on this disorder, choose "Encephalocele" as your search term in the Rare Disease Database.)

Cleft Lip and Cleft Palate may occur together with Dandy-Walker Malformation. These are among the most common birth defects found in newborns. A cleft occurs when the roof of the mouth has not completely closed at birth. This opening is due to a failure of the upper jaw bones to properly fuse during development of the embryo. This deformity may affect the entire roof of the mouth (palate), or only the lip, or both. Cleft Lip and Palate associated with a syndrome follows the inheritance pattern of the syndrome. (For more information on this disorder choose "Cleft Lip and Cleft Palate" as your search term in the Rare Disease Database.)

Spina Bifida is a birth defect in which the spinal cord is not properly closed and part of the contents of the spinal canal may protrude through this opening. In its mildest form, this condition may go undetected. The lack of closure may affect a very small area of the spine. In the more severe form of Spina Bifida, a sac (meningocele) may be present on the back containing parts of the spinal canal. Fluid may then accumulate in the cavities in the brain, leading to hydrocephalus. (For more information on this disorder, choose "Spina Bifida" as your search term in the Rare Disease Database.)

Agenesis of the Corpus Callosum is a rare congenital abnormality involving the partial or complete absence of the fibers that connect the 2 cerebral hemispheres of the brain. In some cases mental retardation may result, but other cases may be without symptoms and intelligence may be normal. The first symptom of Agenesis of the Corpus Callosum may be the onset of grand mal epileptic seizures. These may occur during the first weeks or within the first 2 years of life. Hydrocephalus and impairment of mental and physical development may also occur in some patients with Agenesis of the Corpus Callosum. (For more information on this disorder, choose "Agenesis of the Corpus Callosum" as your search term in the Rare Disease Database.)
Standard Therapies

The diagnosis of Dandy-Walker Malformation prior to birth (prenatal) may be made by ultrasound examination. The diagnosis of Dandy-Walker Malformation in a newborn child is confirmed by clinical evaluation and imaging techniques such as ultrasound, CT scan, and MRI (magnetic resonance imaging).

The treatment of Dandy-Walker Malformation may include surgery to place a tube or device in the brain (shunt) to redirect the fluid that surrounds the brain and to assist fluid drainage into other parts of the body which can then absorb the fluid. In growing children the shunt may have to be lengthened periodically and sometimes a new shunt may have to be implanted. Some cases may be treated with ventriculo-peritoneal shunting or posterior ridge-ventricular shunting.

A supportive team approach for children with Dandy-Walker Malformation is often warranted and may include special education, physical therapy, and other medical, social, or vocational services. Other treatment is symptomatic and supportive.

Genetic counseling may be of benefit for families with Dandy-Walker Malformation.

Investigational Therapies

Several new surgical procedures are being investigated for the treatment of Dandy-Walker Malformation and other forms of Hydrocephalus (i.e., cyst fenestration, combined centricular and cyst shunt). More research is needed to determine the long-term safety and effectiveness of these procedures.

Research on genetic disorders and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic and familial disorders in the future.

References

MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor; Johns Hopkins University Press, 1992. Pp. 1325-26.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1992. Pp. 2223-24.

THE MERCK MANUAL, 16th Ed.: Robert Berkow, Editor; Merck Research Laboratories, 1992. P. 2076.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 887-888.

NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.: Richard E. Behrman, Editor; W.B. Saunders Co., 1992. Pp. 1488-89.

PRINCIPLES OF NEUROLOGY, 5th Ed.: Raymond D. Adams and Maurice Victor, Editors; McGraw-Hill Information Services Company, 1993. P. 1020.

DICTIONARY OF MEDICAL SYNDROMES, 3rd Ed.: Sergio I. Magalini, Sabina C. Magalini, and Giovanni de Francisci, Editors; J.B. Lippincott Company, 1990. P. 226.

HARRISON'S PRINCIPLES OF INTERNAL MEDICINE, 12th Ed.: Jean D. Wilson, et al., Editors; McGraw-Hill, Inc., 1991. Pp. 2059, 2086.

DANDY-WALKER SYNDROME: A REVIEW OF FIFTEEN CASES EVALUATED BY PRENATAL SONOGRAPHY. P.D. Ross, et al.; An J Obstet Gynecol (Aug 1989; 161(2)). Pp. 401-06.

THE DANDY-WALKER SYNDROME: THE VALUE OF ANTENATAL DIAGNOSIS. E. Cornford, et al.; Clin Radiol (Mar 1992; 45(3)). Pp. 172-74.

DANDY-WALKER VARIANT: PRENATAL SONOGRAPHIC FEATURES AND CLINICAL OUTCOME. J.A. Estroff, et al.; Radiology (Dec 1992; 185(3)). Pp. 755-58.

CSF DYNAMICS IN DANDY-WALKER SYNDROME. T. Ozgen, et al.; Acta Neurochir (1990; 104(1-2)). Pp. 54-58.

DANDY-WALKER MALFORMATION: ANALYSIS OF 38 CASES. U Pascual-Castroviejo, et al.; Childs Nerv Syst (April 1991; 7(2)). Pp. 88-97.

Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: 2128893141
Fax: 2127272931
Email: staff@navh.org
Internet: http://www.navh.org

National Hydrocephalus Foundation
12413 Centralia
Lakewood, CA 90715-1623
USA
Tel: 5624023523
Fax: 5629246666
Tel: 8888573434
Email: hydrobrat@earthlink.net
Internet: http://www.nhfonline.org

Guardians of Hydrocephalus Research Foundation
2618 Avenue Z
Brooklyn, NY 11235
Tel: (718)743-4473
Fax: (718)743-1171
Tel: (800)458-8655
Email: GHRF2618@aol.com

Hydrocephalus Association
870 Market Street
Suite 705
San Francisco, CA 94102
USA
Tel: 4157327040
Fax: 4157327044
Tel: 8885983789
Email: info@hydroassoc.org
Internet: http://www.hydroassoc.org

NIH/NINDS Brain Resources and Information Network
PO Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Internet: http://www.ninds.nih.gov/

Hydrocephalus Support Group, Inc.
P.O. Box 4236
Chesterfield, MO 63006-4236
USA
Tel: 6365328228
Fax: 3149954108
Email: hydrobuff@earthlink.net

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 8/17/1999
Copyright 1986, 1989, 1991, 1994, 1995, 1999 National Organization for Rare Disorders, Inc.

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