Maroteaux Lamy Syndrome have first described by Doctor Pierre Maroteaux and his colleague Doctor Maurice Emil Joseph Lamy in year 1963. For this reason, the name of this disease comes from these research assistants. This disease is named Mucopolysaccharidosis type VI also. This syndrome have reported as a rare disease that have seen about of 1 in 250.000 people. It is an autosomal recessive disorder that caused by deficiency of n-acetylgalactosamine 4-sulfatase enzyme that called as aryl-sulfatase B. Because of this enzyme deficiency dermatan sulfate will accumulate in the whole body tissues.
Maroteaux Lamy Syndrome genetics:
This disease have an autosomal recessive inheritance. The defective gene have named as ARSB gene and it will localised on chromosome 5. Due to autosomal recessive inheritance, the disease will more common in consanguineous marriages. If a children have affected from this disease, both of the parents must have the defective gene. Prenatal tests must arranged early on pregnancy. If the both parents have the defective gene, with a %25 rate the childrens will affected from this disease. %75 the other part from the children will healty. With it, %50 rate of these healty part of these childrens will carry the defective gene also.
Maroteaux Lamy Syndrome symptoms:
- Frontal bossing, macrocepahly, depressed nasal bridge, enlarged tongue and gingival hypertrophy are the most common facial abnormalities.
- Thoracic deformities like pectus carinatum, lumbar deformities like scoliosis or kyphosis may seen also.
- Hepatosplenomegaly, protruding abdomen, inguinal and umbilical hernias have reported commonly in these patients.
- Upper airway obstruction due to oral or pharyngeal narrowness is common. Bronchial narrowing and tracheobronchomalacia have reported also.
- Frequent cardiac involvement have reported, that caused to mortality and morbidity. Cardiac involvement may also cause arrhythmias.
- In this disease the mental situation is not affected. With it, the patients hearing and visual abilities are limited. Because of it, significant learning issues may arise.
- Neurological findings like spinal cord or nerve root compression, carpal tunnel syndrome and optic nerve injuries have reported also.
Maroteaux Lamy Syndrome treatment:
- Intravenous enzyme replacement therapy galsulfase is the main treatment. With it, it can not reach to poorly vascularised areas like corneas and joint cartilage. So, may improve some of the somatic symptoms but can not treat neurological symptoms.
- Bone marrow and haematopoietic stem cell transplantation have tried but have not be useful.
- Supportive therapies will necessary for heart, respiratory, and other findings.
- Decompression surgery for the brain may be necessary in the age of 20’s.
- Continuous positive airway pressure device may necessary for respiratory involvement.
Maroteaux Lamy Syndrome life expectancy:
The mean age of death is about 20 years. With appropriate supportive care and necessary surgical procedures some of these patients may live upto 40 years.
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