Table 2 Timeline of assessments, diagnoses and treatment

5–7 years

Hip pain, recurrent respiratory infections

Orthopedist assessment and diagnosis of bilateral Legg-Calve-Perthes disease

unknown

7–18 years

Short stature: see Figs. 1 and 2

Pediatric endocrinologist assessment

Leuprolide acetate (3.75 mg/month) ages 13–16

Growth hormone (0.1UI/kg/day) ages 14–18

18 years

Short stature, moderate joint contractures, mild facial dysmorphic features (coarsening of features), scoliosis, and an umbilical hernia

Referred to metabolic disease center by treating pulmonologist.

enzyme activity screening for MPS I positive; genetic analysis positive for MPS I

Enzyme replacement therapy with laronidase (weekly 0.58 mg/kg infusions) initiated