Gillespie Syndrome: Causes, Symptoms, Treatment, Diagnosis
What is Gillespie Syndrome?
Gillespie Syndrome is an extremely rare genetic pathological condition which is characterized by partial or complete absence of the iris of the eyes. The iris is the colored portion of the eyes. Also associated with Gillespie Syndrome is the presence of cerebellar ataxia as a result of underdevelopment of the cerebellum along with mental retardation in some cases. The affected child will also have significant delays in acquiring motor skills.
Gillespie Syndrome follows an autosomal recessive pattern of inheritance meaning that copies of the faulty gene one from each parent is responsible for the development of Gillespie Syndrome. This condition is so rare that only about 30 cases has been identified so far in the United States of Gillespie Syndrome.
What are the Causes of Gillespie Syndrome?
As stated, Gillespie Syndrome follows an autosomal pattern of inheritance meaning that two copies of the defective gene one from each parent is required for the development of this condition.
Researchers are still unable to identify the precise gene that is responsible for the development of Gillespie Syndrome. Some studies suggest that children born out of consanguineous marriages are more at risk for developing genetic conditions like Gillespie Syndrome.
What are the Symptoms of Gillespie Syndrome?
The primary presenting feature for Gillespie Syndrome is the partial or complete absence of the iris of the eyes. This is in majority of the cases bilateral meaning that both the eyes are involved. In very rare cases only one eye is affected due to Gillespie Syndrome.
This abnormality results in the individual having extremely poor vision. Individuals with Gillespie Syndrome also tend to exhibit nystagmus. With age, there is development of glaucoma which gradually progresses to such an extent that there may be complete loss of vision as a result of Gillespie Syndrome.
Additionally, individuals with Gillespie Syndrome also are extremely photosensitive. In addition to the visual abnormalities, an affected individual with Gillespie Syndrome also tends to have an underdeveloped cerebellum causing mental retardation in some cases.
There is also presence of cerebellar ataxia due to the underdevelopment of the cerebellum. The cerebellar ataxia is nonprogressive in nature and tends to improve in some cases with age.
As the cerebellum is responsible for maintaining balance and coordination, the affected individual tends to have poor balance and coordination due to Gillespie Syndrome. Such individuals tend to have a waddling gait.
The quality of the speech of such individuals also gets affected due to the condition and tends to be extremely slow and halting. There is also decreased muscle tone seen in individuals affected with Gillespie Syndrome.
In some cases, children with Gillespie Syndrome have significant delays in acquiring motor skills such as learning to sit, stand, walk, and speak. In rare cases, individuals with Gillespie Syndrome tend to have certain musculoskeletal malformations to include fusion of cervical vertebrae, flatfeet, and clubbed feet. Some individuals also tend to have cardiac defects as well as a result of Gillespie Syndrome.
How is Gillespie Syndrome Diagnosed?
The classic presenting feature of partial or complete absence of the iris is a clear cut sign of Gillespie Syndrome. This in association with hypotonia virtually confirms the diagnosis of Gillespie Syndrome. Since the hypotonia may not be clearly noted at the time of birth along with the other features of this condition thus the exact diagnosis may not be made until early childhood of the patient.
Advanced imaging studies like CT and MRI scan of the brain may clearly show underdevelopment of the cerebellum and confirm the diagnosis of Gillespie Syndrome.
How is Gillespie Syndrome Treated?
The treatment of Gillespie Syndrome is basically symptomatic. The treatment requires coordinated efforts from many specialties who can formulate the best treatment plan for the patient.
Early diagnosis and intervention is the key for a good outcome of treatment. The children may require special treatment for treating conditions like delays in development, problems with speech and language, and problems with movement.
Gillespie Syndrome may require aggressive physical therapy along with speech and language therapy to make the child more communicative and independent and allow the child to put his or her thoughts across with little problems. Other than this, the treatment is purely symptomatic and supportive for Gillespie Syndrome.