Hydranencephaly

Definition

Hydranencephaly is a rare congenital deformity (a deformity that occurs during fetal development) that is characterized by the absence of the cerebral hemispheres of the brain. Instead, the regions of the brain known as the left and right cerebral hemispheres are replaced by sacs that are filled with cerebrospinal fluid.

Description

The absence of the cerebral hemispheres may not be apparent in the first days following birth. The normal and involuntary actions of a newborn such as sucking, swallowing, and crying all occur, as the brainstem controls these actions, and it is usually normal. Moreover, the baby with hydranencephaly appears physically normal, including the size of the head.

The normal behaviors of a growing infant reflect the functions of the left and right cerebral hemispheres. The left hemisphere is normally associated with the acquisition of language. The right hemisphere participates in the perception of space and distance. These sorts of skills are not yet developed in a newborn. Within several weeks to months of birth, the symptoms of hydranencephaly can become apparent.

Demographics

Hydranencephaly is a rare occurrence. It is estimated that one or two babies are born with hydranencephaly worldwide for every 10,000 births. There is no indication that any gender or race is any more susceptible to the disorder.

Causes and symptoms

Within a few weeks of birth, the infant typically becomes irritable and the contraction of the muscles (muscle tone) becomes more pronounced. Muscles may spasm. Seizures can occur. Other symptoms that can develop with time include poor vision or the total loss of vision, poor or no growth, deafness, paralysis, and impaired intellectual development (such as language difficulty).

Hydranencephaly may be caused by a genetic defect, infection associated with vessels, or a trauma that occurs after the twelfth week of pregnancy. Maternal exposure to carbon monoxide early in pregnancy has also been implicated as a possible cause, along with the possibility of early stroke in the developing fetus, or as a result of infection with some viruses.

Diagnosis

Diagnosis is based on the appearance of symptoms noted above. Diagnosis may not be made for weeks or months following birth, because of the initial normal appearance and behavior of the newborn. Prior to birth, ultrasound can reveal hydranencephaly, although techniques for surgical correction in the fetus have not been developed.

Treatment team

A range of medical help, from a family practitioner to pediatric surgeon, can be involved. As well, nurses and family members are part of the care-giving team. Social service workers can refer parents of children with hydranencephaly to community support organizations.

Treatment

There is no definitive treatment for hydranencephaly. Usually, symptoms are treated as they occur and support is provided to make the child as comfortable and happy as possible. Medications are given to control seizures and if excess cerebrospinal fluid collects near the brainstem, a shunt is usually surgically inserted to facilitate redirection of the excess fluid.

Recovery and rehabilitation

Rehabilitation is not stressed for the infant with hydranencephaly, as the long-term prognosis is poor. Physical and occupational therapists may assist in providing treatment to maintain muscle tone for as long as possible, and positioning aids when necessary. Medications are given to control seizures and for comfort.

Clinical trials

As of January, 2004, there were no clinical trials underway or planned in the United States for the study of hydranencephaly. Organizations such as the National Institute for Neurological Disorders and Stroke undertake and fund studies designed to reveal more about the normal development patterns of the brain. By understanding how development can be disrupted, scientists attempt to learn strategies for detecting defects and methods to correct them.

Prognosis

The long-term outlook for children with hydranencephaly is poor. Most children die in their first year of life, although survival past the age of 10 can rarely occur. Currently, the oldest known survivor was 20 years, 6 months old.

Special concerns

Providing support for parents of babies born with hydranencephaly includes genetic counseling and referrals to support groups, where parents can learn practical advice and share information with other parents of children similarly affected. Additionally, mothers who have given birth to a baby with hydranencephaly may be tested for some of the viruses suspected in playing a part in the fetal development of hydranencephaly, including toxoplasmosis, cytomegalovirus, and Herpes simplex virus.

Resources

PERIODICALS

Covington, C., H. Taylor, C. Gill, B. Padaliya, W. Newman, J. R. Smart III, and P. D. Charles. "Prolonged survival in hydranencephaly: a case report." Tennessee Medicine (September 2003): 423–424.

Lam, Y. H., and M. H. Tang. "Serial sonographic features of a fetus with hydranencephaly from 11 weeks to term." Ultrasound Obstetrics and Gynecology (July 2000): 77–79.

OTHER

"NINDS Hydranencephaly Information Page." National Institute for Neurological Diseases and Stroke. (January 20, 2004). <www.ninds.nih.gov/health_and_medical/disorders/hydranen_doc.htm>.

ORGANIZATIONS

March of Dimes Birth Defects Foundation. 1275 Mamaroneck Avenue, White Plains, NY 10605. (914) 428-7100 or (888) 663-4637; Fax: (914) 428-8203. [email protected]. <http://www.marchofdimes.com>.

National Information Center for Children and Youth with Disabilities. P.O. Box 1492, Washington, DC 20013-1492. (202) 884-8200 or (800) 695-0285; Fax: (202) 884-8441. [email protected]. <http://www.nichcy.org>.

National Institute for Neurological Diseases and Stroke (NINDS). 6001 Executive Boulevard, Bethesda, MD 20892. (301) 496-5751 or (800) 352-9424. <http://www.ninds.nih.gov>.

National Organization for Rare Disorders. 55 Kenosia Avenue, Danbury, CT 06813-1968. (203) 744-0100 or (800) 999-6673; Fax: (203) 798-2291. [email protected]. <http://www.rarediseases.org>.

Brian Douglas Hoyle, PhD