Hurler Syndrome is a disturbance of mucopolysaccharide metabolism which is characterized by an elevated mucopolysaccharide excretion level in the urine. There is an excessive intracellular accumulation of both Chondroitin Sulfate B and Heparitin Sulfate in those tissues and organs where they are normally found. Inherited as an autosomal recessive trait.

1. (MUCOPOLYSACCHARIDOSIS I ,MPH IH,GARGOYLISM )

2.  Hurler Syndrome is a disturbance of
mucopolysaccharide metabolism which is
characterized by an elevated
mucopolysaccharide excretion level in the
urine.
 There is an excessive intracellular
accumulation of both Chondroitin Sulfate B and
Heparitin Sulfate in those tissues and organs
where they are normally found.
 Inherited as an autosomal recessive trait.

3. CLINICAL FEATURES
 The disease usually becomes apparent
within the first two years of life , progresses
during early childhood and adolescence and
terminates in death usually before puberty.
 Head appears large consisting of prominent
forehead , broad saddle nose and wide
nostrils , hypertelorism , puffy eyelids with
coarse bushy eyebrows , thick lips , large
tongue , open mouth and nasal congestion
with noisy breathing.

4.  Progressive corneal clouding as is
hepatosplenomegaly resulting in
protuberant abdomen .
 A short neck and spinal abnormalities.
 Flexion contractures result in 'Claw Hands'.
 Loss of physical skills and dwarfism .
 There is progressive mental retardation and
death frequently at the age of 10.

5. Progressive Corneal
Clouding
is a classic
manifestation

7. ORAL MANIFESTATIONS
Shortening and broadening of the mandible
with prominent gonions , a wide intergonial
distance and a greater than normal distance
around the arch from ramus to ramus
accounting for typical spacing of the teeth.
 Localized area of bone destruction in the jaws
may be found which appear to represent
hyperplastic dental follicles with large pools
of metachromatic material , probably
mucopolysaccharide.

8.  The teeth are small, widely spaced, and
misshapen.
 Gingival hypeplasia is not a constant feature
of the disease although gingiva appears
normal, while in few cases the gingiva
appears enlarged as a result of local factors
such as poor oral hygiene or mouth
breathing.
 Occasionally, the gingival tissues appear to be
involved in a manner similar to fibromatosis
gingivae.
 The tongue is characteristically enlarged.

10. HISTOLOGIC FEATURES
 There is excessive accumulation of
intracellular mucopolysaccharide in
many tissues and organs throughout the
body including the liver, spleen,
reticuloendothelial system ,nervous
system,cartilage, bone and heart.
 Abnormal deposits are also found in
many sites with involved fibroblasts
assuming the appearance of 'Clear or
Gargoyle cells'.

11.  The Hurler cells are relatively large with
metachromatically staining cytoplasm which
is either agranular or finely granular often
with crescent shaped nuceli.
 These cells are not identified with
hematoxylin and eosin but become evident
with toluidine blue or Alcian blue/Aldehyde
fuschin stains.

12. Gargoyle cells or Hurler cells

13. LABORATORY FINDINGS
 There is an elevated level of
mucopolysaccharides in the urine .
 In addition, metachromatic granules or Reilly
bodies can often be demonstrated in the
cytoplasm or circulating lymphocytes.

15. TREATMENT
 There is no specific treatment for this
disease.