MPS II patients | P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | P10 | P11 | P12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Age at diagnosis (year/month) | 4 | 1/6 | 4 | 6 | 3 | 4/2 | 4 | 3 | 2 | 3 | 9 | 12 |
Age (years) | 4 | 18 | 22 | 26 | 5 | 5 | 7 | 9 (died) | 9 (died) | 19 (died) | 29 (died) | 39 (died) |
Recurrent clinical symptoms | ||||||||||||
Hepatosplenomegaly | ++ | ++ | ++ | ++ | + | ++ | ++ | ++ | ++ | ++ | ++ | |
Coarse facies: Broad noses, Macroglossia | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ |
Cranial dysmorphism: macrocrania | ++ | +++ | +++ | ++ | ++ | ++ | ++ | + | ++ | ++ | ++ | ++ |
Psychomotor retardation | ++ | +++ | +++ | ++ | + | ++ | +++ | ++ | +++ | +++ | ++ | ++ |
multiple dysostosis: joint stiffness, oval vertebrae | ++ | +++ | +++ | ++ | ++ | ++ | +++ | +++ | +++ | +++ | +++ | +++ |
Osteopenia | ++ | ++ | ++ | +++ | ++ | +++ | ++ | ++ | ++ | ++ | +++ | |
Mental retardation | ++ | +++ | ++ | ++ | + | ++ | ++++ | ++ | ++ | |||
Respiratory problems: nasal obstruction, sleep apnea | ++ | ++ | ++ | ++ | ++ | ++++ | ++++ | ++ | ++ | ++ | ++ | ++ |
Causes aggravating respiratory problems: otitis, large language and adenoids. | ++ | ++ | ++ | ++ | ++ | ++++ | ++++ | ++ | ++ | ++ | ++ | ++ |
Cardiovascular involvement: arrhythmia and congestive heart failure | ++ | ++ | ++ | ++ | ++ | + | ++++ | ++ | ++ | ++ | ++ | ++ |
Specific clinical symptoms | ||||||||||||
Multiple hernia | Blood smear shows an overload | Blood smear shows an overload Dysphasia | Skin involvement | Rhinorrhea umbilical hernia |