Mucopolysaccharidoses

A lysomal storage disease -the body cannot break down carbohydrates and therefore accumulates in different parts of the body including heart, liver, spleen kidneys and brain. These remain stored in the cells causing progressive damage. Babies usually don't show many signs, but as more and more cells are damaged, the symptoms start to appear.

Hurlers Syndrome

Caused by a deficiency of hte enzyme iduronidase. Hurler children have a characteristic pattern of facial features-described as gargoylism. Skeletal abnormalities include-dwarfism, kyphosis, and broad hands with short fingers. Movements at the joints can be limited. Airway obstruction and respitory infection are also very common. Also, structural abnormalitites of the heart, enlarged liver and spleen and clouding of the cornea. Mental development is usually normal in the first few years of childhood, but later severe learning disorders are seen in many patients because the dying cells have reached the brain. Death due to heart and/or lung failure usually occurs before aged 10.

Symptoms of Hurler Syndrome

-permanent trickle of thick mucous from nose not caused from an infection.

-tonsils become enlarged and partly block airway.

-neck is short leading to changes in breathing tubes.

-windpipe becomes stiffened and narrowed by storage material.

-shape of chest is abnormal (pectus)-ribs and breastbone not as flexible as it should be.

-ribs abnormally shaped, therefore chest is rigid and cannot move freely to allow lungs to take in large amounts of air.

-muscles at base of chest (diaphragm) are pushed upwards by the enlarged liver and spleen.

-tissues of lungs become thickened by storage material.

-breathes noisily.

-most suffer from sleep apnea.

-heart disease is very common.

-brain becomes enlarged by storage, often requiring a shunt to relieve fluid pressure.

-eye and ear problems.

-liver and spleen become enlarged by storage.

-abdomen bulges due to posture and by the size of liver and spleen and often causes hernias.

-childs skin is thickened and lacks elasticity.

-sweating and cold hands and feet are common.

-bones in the spine are poorly shaped-have back and neck pain due to the deformities of the spine.

-joint stiffness-movement may be limited.

-shape of hands are very noticeable-short and broad with stubby fingers gradually become curled over or "clawed".

-most suffer from dislocated hips and treatment is not advisable or necessary.

Life Expectancy

Sadly, these children rarely live more than 10-12years and some die much younger, depending on the severity. They have a peaceful death after an infection or from the hearts gradual failure.

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