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.
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.
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.
9.
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.
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.