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MPS is a disease with a great variation according to the type most common type is type III. Hepatosplenomegaly is the most prevalent presenting symptom also it is a prevalent clinical sign on examination.
The mean age of onset was 2 years ± 1.24and at diagnosis was 3.8 years ± 2.03. ENT symptoms were the most prevalent above all symptoms. Surgeries are common in the past history of MPS patients specifically adenotonsillectomy and hernia repair. Delay in development was most observed in the language, cognitive, and fine motor aspects.
Short stature is prevalent across all types of MPS. Coarse facies with odonatological signs were prevalent across all types of MPS. Enzyme assay level measurement is a good valid tool to exclude MPS because urine gags have a high false-negative rate also it not as specific as enzyme assay. Skeletal manifestations are very severe in MPS type IV patients.
Also, the mitral valve is the most affected valve among all types. hearing loss is present with a great percentage in our Egyptian sample of patients. Low IQ is observed in all types except type I&IV&VI but IQ assessment and quality of life are difficult to assess in those who affected.
MPS is a disease that needs a multidisciplinary approach for diagnosis and treatment.
1. In great suspicion of MPS, enzyme assay should be used to diagnose or exclude a diagnosis in them.
2. Surveillance and screening for complications and regular follow up at regular healthcare visits.
3. An ophthalmologic examination should be performed initially and then as determined by the ophthalmologist to assess corneal clouding, glaucoma, retinal disease.
4. A cardiac evaluation, including electrocardiogram (ECG) and echocardiography, should be performed at diagnosis and then annually to assess valvular heart disease, cardiomyopathy, cor pulmonale, and heart failure.
5. A comprehensive neurologic examination is done at presentation and then annually to detect carpal tunnel syndrome, spinal cord compression, or communicating hydrocephalus. These conditions can be further evaluated with electromyography, somatosensory evoked potentials, and lumbar puncture with measurement of opening pressure. Neuroimaging should be performed if hydrocephalus is suspected and in patients with developmental delay.
6. Radiographic studies of the neck in flexion and extension (plain films) should be obtained to assess cervical instability and magnetic resonance imaging (MRI) of the craniocervical junction for compression. These studies are obtained annually initially, but it could be reduced in those without significant abnormalities. Plain films may not be required if MRI in flexion and extension is possible. Evaluation of the spine for vertebral slippage and kyphoscoliosis should be performed annually.
7. Patients who have breathing problems at night or daytime somnolence should have oximetry or polysomnography to evaluate obstructive sleep apnea.
8. Hearing should be tested annually in all patients with MPS.
9. Orthopedic evaluation should be performed every 6 to 12 months, depending upon disease severity, to monitor patients for hip and other joint disease.
10. Dental evaluation should be performed every 6 to 12 months.
11. Early initiation of enzyme replacement therapy or the process of hematopoietic stem cell transplantation once indicated and treatment of complication once occurred.
12. Doing molecular diagnosis to know the specific mutation for proper patient education, counseling, perinatal diagnosis, and carrier detection.
13. Early screening of the newborn to the affected siblings for early diagnosis and treatment for a better outcome.
14. Offer antenatal and perinatal diagnosis for pregnant women in the presence of a family history of MPS.