Chiari malformation is a congenital disease linked to the X chromosome. It occurs when the cerebellum, the organ in charge of controlling balance and neuromuscular coordination, descends through the major orifice of the skull and compresses the brain stem causing a brain herniation. In some cases, this structural defect leads to an excessive accumulation of brain fluid (hydrocephalus) that can cause serious mental damage.
The most common symptoms are lack of balance, memory loss, dizziness, loss of vision, nystagmus, lack of sensation and muscle atrophy, although their appearance varies depending on the clinical case. To make a definitive diagnosis, an MRI of the posterior fossa of the skull is necessary, so that an average of seven years elapse from the onset of symptoms until their detection . Treatment of the malformation is surgical and consists of decompression of the posterior fossa.
Despite being considered a rare syndrome, there are about 2,500 diagnosed in Spain. On September 28, the International Day of this disease is celebrated.
