Crome syndrome is a rare condition that often leads to death within the first eight months of life. Symptoms include congenital eye problems, kidney problems, seizures, mental retardation, and short stature. Treatment focuses on managing symptoms as there is no cure.
Crome syndrome is a condition that typically appears shortly after birth and is relatively rare. Documented cases of the disease show that it is usually fatal within the first eight months of life. The most common symptoms of Crome syndrome are congenital eye problems, such as cataracts, and kidney problems, such as necrosis of the kidney tubes, a complication that can often lead to kidney failure. This condition often has no obvious symptoms until it progresses to later stages with further complications. Doctors believe that this condition is caused by an autosomal recessive gene mutation.
One of the first possible signs of this rare condition is the development of cataracts that are not related to age or other medical problems. Young patients who have cataracts early in life are typically screened to ensure that this problem does not have an underlying cause other than Crome syndrome. These types of congenital cataracts gradually worsen until vision deteriorates. Infants diagnosed with this eye condition are often not considered good candidates for extensive cataract surgery.
Seizures and mental retardation are additional signs of Crome syndrome that has progressed to more advanced stages. Depending on their severity, seizures can sometimes be managed with medication. Doctors often attribute the symptom of mental retardation to disruptions in the regular formation of synaptic connections in the brain during this critical early developmental period. Infants diagnosed with late-stage Crome syndrome also often remain shorter than average stature.
A common kidney problem linked to this condition is tubular necrosis, a complication characterized by tissue decay and cell death in the kidney tubes that facilitate normal function. The presence of dark clots in the urine is usually one of the first signs of this complication. This necrotic process can often cause the inner membranes of the kidney walls to collapse, leading to kidney failure that normally requires extensive medical intervention.
Treatment of Crome syndrome usually focuses on managing symptoms because there is no established, effective cure. Controlling seizures, preventing more cataracts from forming, and managing kidney failure are among the common medical procedures for treating these complications. Some doctors report success in preventing further cataracts through lifestyle measures, such as protecting the eyes from the sun. Some Crome syndrome patients also see improvements from regular kidney dialysis.
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