Alstrom Syndrome in Children

Alstrom syndrome in children is a rare disease that is inherited and can lead to deafness, blindness, obesity, and diabetes. Alstrom syndrome is classified as an autosomal recessive disorder, which means that both parents must have a copy of the defective gene that the child inherits. While this disease is considered to be rare, there are more cases of this syndrome in Holland and Sweden than those seen in the United States.

Symptoms of Alstrom Syndrome

There are several symptoms associated with Alstrom syndrome in children. Most often, the first symptom of this disease is a sensitivity to light, commonly known as photophobia. The retina begins to deteriorate and vision decreases. The most common symptoms of Alstrom syndrome in children are blindness or severe vision loss, even during infancy.

Many children with this disease also suffer from loss of hearing and total deafness, either in childhood or adulthood. Hearing loss is associated with the loss of nerve function within the hearing system, which causes the brain to lack the ability to process the sounds.

Other common symptoms of Alstrom syndrome in children include dark patches of skin, impaired heart functions and kidney failure. Many children with this condition have type 2 diabetes or childhood-onset diabetes. Many children are also obese and may suffer from slowed growth.

Rarely, children may have gastrointestinal reflux. Other rare symptoms of this syndrome include hypothyroidism and liver dysfunction. Learning disabilities can occur if vision loss and deafness occur.

Treatment for Alstrom Syndrome

There are many tests that are conducted for children who have Alstrom Syndrome. Common tests include checking blood sugar levels, triglyceride levels, and thyroid function. Sight and hearing are tested as well as heart function.

Unfortunately, there is no cure or certain treatment for this syndrome other than treating the symptoms of Alstrom syndrome in children. Common treatments for this syndrome include hearing aids, heart medications, diabetes medications and thyroid hormone replacement.

Certain complications are known to arise when this syndrome is present. Complications of Alstrom syndrome in children include permanent blindness and deafness, as well as type 2 diabetes. It is not uncommon for kidney and liver failure to progress. Often, complications from diabetes occur, as well as coronary artery disease. Many children with this condition experience shortness of breath and fatigue. Scoliosis, digestive complications, respiratory problems and high blood pressure are all likely to occur as well. Alstrom syndrome is a condition that requires frequent monitoring to ensure complications do not progress unnoticed.

References:
"Alstrom Syndrome" UMM
"What is Alstrom Syndrome?" Alstrom