HURLER SYNDROME(MUCOPOLYSACCHARIDOSIS I ,MPH IH,GARGOYLISM )

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.

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.

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.

Progressive Corneal Clouding is a classic manifestation

ORAL MANIFESTATIONSShortening 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.

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.

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'.

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.

Gargoyle cells or Hurler cells

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.

TREATMENT There is no specific treatment

for this disease.