Hurler Syndrome
In Hurler syndrome, development is normal at birth and during early
infancy. Over time, as GAGs accumulate in the brain, the baby's development
slows and eventually stops, usually by 1 to 3 years of age. This arrest
in development is followed by a loss of the skills already learned.
There is great variation in the level of development that children with
Hurler syndrome are able to attain before their development stops. Some
children learn to walk and talk; others do not.
The normal circulation of cerebrospinal fluid (a clear fluid that protects
the brain and spinal cord from injury) may become blocked and cause
increased pressure inside the head. This pressure can cause headaches
and delayed development. A neurologist (a doctor specializing in the
brain) can diagnose this condition with an MRI of the head and can treat
the hydrocephalus with a shunt (a thin tube that drains some of the
fluid away from the brain).
Some degree of hearing loss is common in Hurler syndrome. The type of
hearing loss may be sensorineural (due to problems in nerves or in the
hearing center of the brain), conductive (due to problems within the
ears themselves), or mixed (due to problems in the nerves/brain and
the ears). Periodic hearing checks are important for the early detection
and possible treatment of hearing loss.
Some people with Hurler syndrome experience pain and loss of feeling
in the fingers caused by carpal tunnel syndrome. The pressure on the
nerves leading to the hands may cause irreversible nerve damage. Nerves
may also be compressed elsewhere in the body, leading to weakness and/or
pain. Referrals to a neurologist and/or an orthopedic surgeon may be
done to diagnose this condition and determine appropriate management.
A nerve conduction velocity (a test that measures the
speed with which impulses are sent along a nerve) or NCV may be helpful
in making the diagnosis.
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