Arima syndrome, Cerebello-oculo-renal syndrome
Type of disease: Rare conditions
Dekaban-Arima syndrome (DAS) is a genetic condition along the spectrum of Joubert syndrome and related disorders (JSRD). It is characterized by severe vision loss or impairment known as Leber’s amaurosis and multicystic kidneys (kidneys covered in cysts and scar tissue). DAS is caused by underdevelopment or abnormal development of a part of the brain known as the cerebellar vermis, which manages balance and coordination. Many issues may come from this underdevelopment, and the most common symptoms of DAS include developmental delays or mental impairment, poor growth, retinal (eye) dystrophy, poor functioning or multicystic dysplastic (abnormal development of) kidneys, and decreased muscle tone. Repeated eye rubbing, poking or pressing at the eyes is a sign of severe eye impairment or Leber’s amaurosis and is a common behavior. Other, less common symptoms that may occur include poor coordination, rapid eye movements, abnormally shaped eyes or eye parts (i.e. retina, cornea, etc.), abnormally functioning liver and abnormal breathing patterns. Diagnosis is often made through an MRI where the underdevelopment of the cerebellar vermis, indicated by a “Molar Tooth” sign, can be seen by the doctor. There is currently no treatment for DAS, but speaking with specialists who can help manage the condition is recommended as well as frequent checkups. Dialysis and medications may be necessary to manage the associated kidney conditions. DAS is inherited or passed from parent to child as an autosomal recessive condition. Both parents must carry the changed gene that causes DAS in order to have a child with this condition. Each child of two carrier parents has a 25% chance of having the condition. Genetic counseling can help in understanding the underlying causes and recurrence risks. It is best to talk with your doctor to find the best treatment options. Support groups are also a good source of information and support.