The bad syndrome that you would not like to have!
What is this syndrome?
This syndrome that you do not ever want is Morquio syndrome this is a rare inherited birth defect. The disease may not be visible at birth; symptoms usually begin between ages 1 and 3. Morquio syndrome is a progressive disease, meaning symptoms get worse as a child grows. Morquio syndrome is part of a group of diseases called mucopolysaccharidoses (MPS). Morquio is also known as MPS IV.This syndrome occurs in the inner part of the body. This happens because their body is missing or don't make enough of an important enzyme and, as a result, they cant break down certain materials in the body.
When Annabelle was 4 months old her mother thought that something was wrong with her back because she saw a peculiar curve in her lower back.She was advised for x-rays. Then that lead to 2 months of repeat labs which contained urine test and skin biopsys. Then after all the test it was confirmed she was diagnosed with morquio syndrome.Which is an very early age for a child to be diagnosed with this syndrome.Annabelle had her first major surgery when she was 2. The surgery was to decompress her cervical spinal cord and stabilize her neck. Which is an common symptom of the damage caused by Morquio Syndrome. Within two weeks after her surgery she was moving around the whole house, dancing, singing, and just being a kid.At 4 years old, Annabelle faced her second and third major surgeries to reconstruct both hips. The damage from the disease had changed the bone structure in her hips so that when she walked there was no hip shelf. It was very painful for her and debilitating.After 2 surgeries and two long weeks in the hospital,came the next major challenge…a spica cast from chest to ankles. 6 weeks in that cast was challenging.She was in therapy for a year and went 5 days a week. During all these surgurys she had hearing loss and corneal clouding.Now she is doing what all the other kids her age are doing.
Since this is a disorder decreases, genetic counseling is recommended for parents who have a family history Morqui Syndrome. Enzyme replacement therapy is still under investigation for effectiveness. Until now, there is still no specific treatment to address Morque Syndrome
In Morquio syndrome mortality and morbidity, especially associated with atlantoaxial instability and subsequent cervical myelopathy. Decrease in minor or extension of the neck can cause the cord transection and subsequent quadriparesis or death.