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Patient | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 |
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Age in years when the guardian noted symptoms | 4 | 3 | 3 | 3 | 3 | 3 |
Age in years at diagnosis | 10 | 5 | 15 | 13 | 3 | 3 |
CNS symptoms and signs | Hyperactivity, poor cognitive function, irritability, not talking | Hyperactivity and irritability, poor cognitive function, mumbles things | Attention-deficit, poor cognitive function, language intact | Very intelligent despite being deaf, good school performance | Functionally normal | Severe CNS dysfunction |
Respiratory symptoms | Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea | Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea | Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea | Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea | Snoring when asleep | Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea |
Abdomen | Umbilical hernia, hepatomegaly | Umbilical hernia, hepatomegaly | Umbilical hernia, hepatomegaly | Umbilical hernia, hepatomegaly | Umbilical hernia, hepatomegaly | Umbilical hernia, hepatomegaly |
Ears | Recurrent otitis media and deaf | Recurrent otitis media and deaf | Recurrent otitis media and deaf | Recurrent otitis media and deaf | None | Recurrent otitis media and deaf |
Skeletal | Carpal tunnel syndrome, multiple joint contractures | Carpal tunnel syndrome, multiple joint contractures | Carpal tunnel syndrome, multiple joint contractures | Carpal tunnel syndrome, multiple joint contractures | Carpal tunnel syndrome | Carpal tunnel syndrome, multiple joint contractures |
Iduronate-2-sulfatase level, ref ≥5.6 μmol/L/h | <0.8 μmol/L/h | <0.8 μmol/L/h | <0.8 μmol/L/h | <0.8 μmol/L/h | <0.8 μmol/L/h | <0.8 μmol/L/h |
Gene mutation type | Missense | Missense | Nonsense | Nonsense | Nonsense | Frameshift |
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