Walter Edward Dandy studied abnormalities in the developing human brain in the United States in the twentieth century. He collaborated with pediatrician Kenneth Blackfan to provide the first clinical description of Dandy-Walker Syndrome, a congenital brain malformation in which the medial part of the brain, called the cerebellar vermis, is absent. Dandy also described the circulation of cerebral spinal fluid, the clear, watery fluid that surrounds and cushions the brain and spinal cord. That description led Dandy to examine how the impeded flow of cerebral spinal fluid caused congenital hydrocephalus, which occurs when fluid accumulates in the brain causes it to swell. Dandy discovered brain anomalies that primarily develop during embryonic development, and his work helped to detect brain abnormalities.
Hydrocephalus is a congenital or acquired disorder characterized by the abnormal accumulation of cerebrospinal fluid within the cavities of the brain, called ventricles. The accumulation of cerebrospinal fluid, the clear fluid surrounding the brain and spinal cord, causes an abnormal widening of the ventricles. The widening creates potentially harmful pressure on the tissues of the brain that can result in brain damage or death. The most obvious sign of hydrocephalus is the rapid increase in head circumference or an unusual large head size due to the accumulation of cerebrospinal fluid in the brain. In infants, hydrocephalus can be caused by congenital factors such as malformations of the brain, or acquired factors such as tumors, cysts, meningitis, or bleeding. Treatment after the infant is born can lead to normal cognitive and physical development with few limitations.
Dandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls movement, and to the ventricles, the fluid-filled cavities that surround the cerebellum. The syndrome is named for physicians Walter Dandy and Arthur Walker who described associated signs and symptoms of the syndrome in the 1900s. The malformations often develop during embryonic stages. In early infancy, symptoms include slow motor development and a progressive enlargement of the skull due to cerebrospinal fluid accumulation called hydrocephalus. The prognosis of Dandy-Walker syndrome is highly variable, ranging from minor or negligible birth defects to profound malformations, disability, or early death.
From February 2003 to December 2010, researchers of the Management of Myelomeningocele Study, or MOMS, clinical trial compared the safety and efficacy of different treatments for a specific type of spina bifida, called myelomeningocele. Myelomeningocele, the most frequent and severe form of spina bifida, is a condition in which the bony spinal column does not develop correctly, which causes an opening of the spine, exposure of the spinal cord, and formation of a small sac containing cerebrospinal fluid. Myelomeningocele affects 3.4 infants per 10,000 live births in the United States and is fatal in ten percent of affected infants. Investigators in the MOMS trial aimed to find a more successful treatment for myelomeningocele through different types of surgery. To accomplish that, they performed prenatal, or in utero, and postnatal repair operations in their study. The MOMS researchers concluded that prenatal repair improved motor and neurologic outcomes, such as the ability to activate and coordinate the muscles and limbs, and reduced the risk for fetal death.