What is Wolfram Syndrome?
Wolfram Syndrome is an inherited pathological condition characterized by development of diabetes mellitus very early in childhood along with progressive optic atrophy. Children with Wolfram Syndrome have juvenile onset diabetes mellitus with gradual degeneration of the optic nerve. Around 30% of children with Wolfram Syndrome also develop progressive hearing loss due to this condition. Diabetes insipidus is yet another condition which is found in majority of children with Wolfram Syndrome.
What are the Causes of Wolfram Syndrome?
The root cause of Wolfram Syndrome is mutation in the WFS1 gene. This condition follows an autosomal recessive pattern of inheritance meaning that two copies of the defective gene from each parent is responsible for the development of Wolfram Syndrome.
What are the Symptoms of Wolfram Syndrome?
Insulin dependent diabetes mellitus very early in childhood is the primary presenting symptom of Wolfram Syndrome. The condition may be observed within a month of age of the child.
Wolfram Syndrome may also occur by the time the child reaches his or her teenage years. The child will have symptoms typical to that of diabetes mellitus including frequent urination, constant thirst, constant hunger, weight loss, itching of skin, vision disturbances, slow healing of cuts and bruises, failure to thrive in children.
Optic atrophy or gradual degeneration of the optic nerves is yet another symptom for Wolfram Syndrome. The symptoms of Wolfram Syndrome will become apparent with the child losing the ability to differentiate colors and will tend to have a reduced visual acuity.
With time as the disease advances, the child will lose complete ability to differentiate colors and will only be able to differentiate between daylight and darkness.
Additionally, deafness is another main symptom of Wolfram Syndrome. About 50% of children with Wolfram Syndrome tend to become partially or completely deaf as they grow. Some the other symptoms that tend to occur with Wolfram Syndrome are:
- Urinary tract dysfunction
- Neurological symptoms like gait ataxia and myoclonus
- Conditions like megaloblastic anemia, sideroblastic anemia, and neutropenia.
How is Wolfram Syndrome Diagnosed?
Wolfram Syndrome is a difficult condition to diagnose. There are many instances where the physician may not be able to ascertain the symptoms or complaints offered by the child that it may be related to a condition like Wolfram Syndrome.
Their main focus will be to identify a source for the diabetes mellitus that the child will be having and they will tend to formulate a treatment plan for this condition.
Later on in life when other symptoms of this condition start to present themselves does the physician start to conduct other specialized tests which points towards a diagnosis of Wolfram Syndrome. A genetic test then conducted clearly delineates mutation in the WFS1 gene confirming the diagnosis of Wolfram Syndrome.
How is Wolfram Syndrome Treated?
The treatment of Wolfram Syndrome is supportive and symptomatic. It requires a multidisciplinary effort from a team of specialists to formulate a treatment plan for a child with Wolfram Syndrome. Insulin is a must for all children with Wolfram Syndrome. Additionally, hearing aids may be of benefit for people with hearing deficits due to Wolfram Syndrome.
