Table 1

the clinical features of MPS II patients and their leukocyte IDS activity

Features

Family 1


Patient 1

Patient 2


MPS II genotype

p.R88P

p.R88P


IDS activity nmol/h/mg protein

2

5


Prenatal diagnosis

1st cousins

1st cousins


Age at diagnosis (year/month)

3 years

3 years


Age of onset (year/month)

18 months

18 months


Sex

Male

Male


Growth retardation

Marked

Marked


Macroglossia

Marked

Marked


Macrocarinia

Marked

Marked


Hepatosplenomegaly

Marked

Marked


skeletal deformities

severe

severe


Other features

teeth small and poorly located deafness

teeth small and poorly located deafness


Mental retardation

severe

severe


IDS activity nmol/h/mg protein

2

5


Chkioua et al. Diagnostic Pathology 2011 6:42   doi:10.1186/1746-1596-6-42

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