Table 1 Clinical information of MPS II patient.
Basic Information | ||
|---|---|---|
Sex | Male | |
Onset age | 2 years old | |
Diagnosis age | 10 years old 2 months | |
Diagnosis date | January 2022 | |
Clinical manifestation | Coarse faces: macrocephaly, prominent forehead, thick hair, blunt nasal tip, and thick lips Dysostosis multiplex: claw hands, joint stiffness/contracture/ enlargement, short stature Nervous system: intelligence Regression, behavioral abnormalities, disturbed sleep, epilepsy, IQ/DQ assessment was not completed, FMFM98points (98/183, 66.42%), GMFM203points (203/260, 78.00%) Ear-nose-throat and mouth: airway obstruction, tonsil/adenoid hypertrophy, snoring, recurrent respiratory infections Cardiovascular system: the aortic valves regurgitation, ventricular hypertrophy and heart failure Digestive system: abdominal distension, evident hepatosplenomegaly | |
UGAGs (DMB) | + | |
IDS(DBS) | 0.00(>1.500 nmol/h/mL) | |
WGS | IDS (c.1033delT) | |
Clinical classification | Severe | |
ERT start time | April 7th, 2022 | |
ERT start time | April 28th, 2022 | |
MPS1: before ERT | MPS2: after ERT | |
|---|---|---|
Assessment age | 10-years-old 2months | 10-years-old 6months |
Clinical manifestation | ||
Respiratory infection | 2–3/month | 1/month |
Seizures | Up to 7 times a day | Absent |
Sleep quality | Unable to sleep on back, snore, Occasional apnea, sleep light | Able to sleep on back for 3–4 h |
6MWT | Walk 6 m alone, easy to fall | Walk 20 m alone |
3MSC | Unable to climb stair alone | Able to climb 5 stairs alone |
Volume of liver and spleen | Liver was 5 cm below the costal margin, spleen was 3 cm below the costal margin | Liver was 4 cm below the costal margin, below spleen was 3 cm the costal margin |
Height | 116.5 cm | 119.5 cm |
