Skip to main content

Table 4 Characteristics of the entire group of MPS I patients at the first visit to a medical specialist for an MPS I-related symptom as specified for the MPS I Hurler and non-Hurler patients

From: Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

First visit to a medical specialist
  All MPS I Hurler Non-Hurler
Number of patients 29 20 9
Age at first visit (months)
 Median 4 3 12
 Range 0 – 54 0 – 20 0 – 54
Specialism of 1st referral Nr. % Nr. % Nr. %
 Ear, nose, and throat specialist 3 10% 2 10% 1 11%
 General pediatrician 20 69% 14 70% 6 67%
 Orthopedic surgeon 2 7% 1 5% 1 11%
 Pediatric surgeon 3 10% 2 10% 1 11%
 Pediatric cardiologist 1 3% 1 5% 0 0%
Symptom leading to 1st referral Nr. % Nr. % Nr. %
 Recurrent airway infections 7 24% 5 25% 2 22%
 Upper airway obstruction 3 10% 2 10% 1 11%
 Inguinal/umbilical hernia 4 14% 3 15% 1 11%
 Hydrocephalus 2 7% 1 5% 1 11%
 Hepatosplenomegaly 1 3% 1 5% 0 0%
 Kyphosis/hip dysplasia 3 10% 2 10% 1 11%
 Joint stiffness 1 3% 0 0% 1 11%
 Facial features 4 14% 4 20% 0 0%
 Hearing problems 1 3% 1 5% 0 0%
 Growth delay 2 7% 1 5% 1 11%
 Developmental delay 1 3% 0 0% 1 11%
Other MPS I-related
symptoms at 1st referral
Nr. % Nr. % Nr. %
 Recurrent airway infections 7 24% 4 20% 3 33%
 Upper airway obstruction 10 34% 9 45% 1 5%
 Inguinal/umbilical hernia 8 28% 6 30% 2 10%
 Hydrocephalus 2 7% 2 10% 0 0%
 Hepatosplenomegaly 2 7% 1 5% 1 5%
 Joint stiffness 3 10% 2 10% 1 11%
 Facial features 4 14% 2 10% 2 10%
 Hearing problems 6 21% 4 20% 2 10%
 Vision problems 1 3% 0 0% 1 5%
 Developmental delay 5 5% 2 10% 3 15%
 Growth delay 1 3% 0 0% 1 5%
  1. The sums of the percentages of each item may not equal 100% because the percentages represent rounded values
\