A 24-year old mother shocked doctors in Shandong Province when she was admitted to the hospital for dizziness and nausea, including vomiting for one month. A look at her CAT scan immediately revealed the problem -- she was born without her cerebellum.
The team of doctors who studied the case of the woman's extrememly rare condition was lead by neurosurgeon Feng Yu, who said that she is only one out of nine indivivulas ever documented to have been born without a cerebellum.
Upon further questioning the woman about her medical history, it was revealed that she had struggled with balance all her life. Her mother reported that, as a child, the woman was unable to walk until she was four and could not do so without assistance until she was seven. She was also unable to speak until she was six and did not attend school.
Loss of balance and slurred speech are usually symptoms of cerebellar disfunction, however there were no other indications that warranted a brain scan until recently.
According to Yu's team, the woman's speech and gross motor skills were observed as follows:
"A verbal analysis test revealed her word comprehension and expression remained intact and she had no sign of aphasia, but mild to moderate signs of cerebellar dysarthria. The patient has mild voice tremor with slurred pronunciation and her voice quality is slightly harsh... While she is able to walk unsteadily without support, her gait is moderately unsteady. The patient has evidence of tandem gait and moderately reduced gait speed."
The cerebellum is the area of the brain that controls gross motor function is often called the "little brain." It is an area of densely packed tissue normally located under the two hemispheres and accounts for 10 percent of the brain's volume and more than half of the entire neuron network.
In this woman's case, the area of her brain where her cerebellum should have been, was instead filled with cerebrospinal fluid, which acts as a protective cushion for the brain and a defense from disease.
Yu said her case is a remarkable example of neuroplasticity, or the brain's ability to rewire itself to compensate for damaged or missing areas of the body. Although most cases involve missing limbs or senses such as sight, the woman's case presents the brain's ability to adapt to an entire region being missing since birth.
The prognosis for the woman's future remains unclear since most patients in the past who had this condition died young. But aside from the woman's delayed development as a child, she seemed to lead an otherwise healthy life, despite her imbalance problems. She even went through pregnancy and childbirth without suspecting she was different from other people.
More details about the woman's extraordinary case were documented in a study published online by Yu's team in the Aug. 22 issue of Brain.
