RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164077846
T1 Maroteaux-Lamy Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164077846
RD 2024/04/19
AB The  three  variants  of  Maroteaux-Lamy  Syndrome  (mucopolysaccharidosis  [MPS]  type  VI)  are  severe,  intermediate,  and  mild.  The  severe  form  of  this  condition  is  similar  to  the  severe  form  of  Hurler  Syndrome,  except  for  the  preservation  of  intelligence  in  these  patients.  The  clinical  features  include  macrocephaly,  coarse  facial  features,  macroglossia,  joint  abnormalities,  hearing  loss,  and  short  stature.  Hepatosplenomegaly,  cardiac  anomalies,  and  restrictive  pulmonary  disease  are  commonly  reported.  The  heart  disease  involves  valvular  dysfunctions.  The  airway  can  be  compromised  and  difficult  airway  management  during  anesthesia  must  be  expected.  Corneal  opacities  are  often  present.  Other  features  include  numerous  skeletal  malformations  such  as  stubby  fingers,  joint  restrictions,  claw  hands,  lumbar  lordosis,  and  hip  pain  that  occur  after  the  age  3  or  4  years.  As  a  matter  of  information,  the  administration  of  an  enzyme  replacement  therapy  has  been  successful  in  improving  growth  and  joint  movement.  At  a  cost  of  $365,000  a  year,  Naglazyme  is  considered  one  of  the  world’s  most  expensive  drugs!