Table 1: Presenting features of the case in compare to the features of MPS I, II and III.
Signs Case Status MPS II MPS I MPS III
Coarse Facial features Present/ frontal bossing, thick eyebrows, depressed nasal bridge, broad lip, malocclusion of teeth, oral ulcer, short neck and small stubby fingers [Figure 1(a,c,d)] ++ ++ +
Macrocephaly Present/ OFC 58 cm ++ ++ +
Communicating hydrocephalus Not assessed + +
Dental abnormalities Present ++ +
Cognitive/ developmental delay Present + (Severe patients only) + (Severe patients only) ++
Spinal cord compression Not assessed + +
Carpal tunnel syndrome Absent ++ ++
Hyperactivity, aggression, impulsivity Present + ++
Seizures Absent + +
Hearing loss Mild ++ ++ +
Recurrent ear infection Present ++ ++ +
Persistent rhinorrhea Present ++ ++ +
Frequent respiratory infections Present ++ ++ +
Respiratory obstruction Present ++ ++
Sleep apnea Present ++ ++ +
Hepatosplenomegaly Present/ hepatomegaly 6 cm from subcostal margin in right sub clavicular line. ++ ++ +
Umbilical hernia Present [Figure 1(b)] ++ ++ +
Chronic diarrhea Absent ++ + +
Dystosis multiplex Present (bullet shaped meta-phalanges, spatulated ribs) [Figure 2(a,b)] ++ ++ +
Growth retardation Present ++ ++
Claw hands Absent ++ ++
Joint stiffness Present ++ ++ +
Cardiac valve disease Not assessed ++ ++ +
Corneal clouding Absent ++
“+” = Present, “─” = Absent “+” = Present, “─” = Absent “+” = Present, “─” = Absent “+” = Present, “─” = Absent “+” = Present, “─” = Absent
Structure of this table is modified upon the work of Burton, B.K., Giugliani, R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 171, 631–639 (2012). https://doi.org/10.1007/s00431-012-1703-y Structure of this table is modified upon the work of Burton, B.K., Giugliani, R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 171, 631–639 (2012). https://doi.org/10.1007/s00431-012-1703-y Structure of this table is modified upon the work of Burton, B.K., Giugliani, R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 171, 631–639 (2012). https://doi.org/10.1007/s00431-012-1703-y Structure of this table is modified upon the work of Burton, B.K., Giugliani, R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 171, 631–639 (2012). https://doi.org/10.1007/s00431-012-1703-y Structure of this table is modified upon the work of Burton, B.K., Giugliani, R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 171, 631–639 (2012). https://doi.org/10.1007/s00431-012-1703-y