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

1^st cousins

1^st 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