Dekaban-Arima syndrome (DAS) is a rare condition in which the cerebellum is absent or underdeveloped. The cerebellum, located between the left and right hemispheres, is responsible for balance and coordination. The main symptoms of DAS are eye and kidney abnormalities, with possibly a range of other symptoms. The DAS is also known as “Cerebellar Hypoplasia with Leber Amaurosis and Multicystic Kidneys”. According to some scientists, DAS may be related to Joubert syndrome.
- Epidemiology Dekaban-Arima syndrome
- Causes and heredity of the condition
- Symptoms: Brain and muscles, eyes, liver
- Diagnosis and examinations
- Therapy
- Prognosis
Epidemiology Dekaban-Arima syndrome
The exact prevalence of the extremely rare DAS is not known in scientific literature, but is <1 / 1,000,000 (October 2020). Information regarding gender preference, geographical features and other relevant information have not been reported (October 2020).
Causes and heredity of the condition
DAS is a congenital condition. Inheritance is autosomal recessive. This means that two copies of the defective gene must be present for the disease to manifest. The exact genetic mutation or defect that causes this condition is unknown. Many researchers believe that DAS is related to Joubert syndrome, in which the cerebellum is also absent or underdeveloped. Some researchers believe that patients with Joubert syndrome are therefore divided into two groups: patients with retinal problems (DAS) and patients without retinal problems.
Symptoms: Brain and muscles, eyes, liver
Brain and muscles
Patients diagnosed with Dekaban-Arima syndrome have no or underdeveloped cerebellum . Small brain (cerebellum) regulates balance and coordination. The severity of the ataxia (balance and coordination disorder) varies from patient to patient. Decreased muscle tone is common in children with Dekaban-Arima. Due to weak muscle tone, developmental delay in motor skills and speech is common.
Eyes
Eye abnormalities such as nystagmus (medical term for “rapid involuntary eye movements”) and retinal dystrophy (retinal degeneration) also occur.
Liver
In addition, liver abnormalities such as liver fibrosis (scarring of the liver due to repeated injury) occur in patients with Dekaban-Arima syndrome. Connective tissue that proliferates in the liver causes liver fibrosis.
Additional symptoms
In addition, a range of symptoms may present in patients with DAS:
- Facial abnormalities (facial appearance appears abnormal such as eyes that are far apart, drooping eyelids, small earlobes, wide forehead, strange tongue movements and/or wide mouth)
- Breathing problems (abnormal breathing pattern with episodes of rapid breathing or panting (hyperpnea) followed by pauses in breathing (apnea).
- Information processing problems (problems processing information and responding to information from one of the five senses)
- Short stature/poor growth
- Renal insufficiency (usually polycystic or cystic dysplastic kidneys, usually progressive)
- Developmental delay/intellectual disability, variable in severity
Diagnosis and examinations
The final diagnosis of DAS is made via an MRI scan that shows the absent or underdeveloped cerebellum.
Therapy
There is no proven effective treatment for DAS. Therefore, doctors try to reduce symptoms and prevent complications. It is recommended that the patient undergo regular check-ups with an ophthalmologist and nephrologist. Furthermore, a patient receives a multidisciplinary approach from various healthcare professionals: nephrologist, ophthalmologist, physiotherapist, occupational therapist, behavioral therapist, speech therapist, etc. Furthermore, a patient with serious kidney abnormalities receives dialysis or a kidney transplant.
Prognosis
Although little information is known about the lifespan of patients with DAS, the scientific literature shows that many patients with DAS die due to complications related to kidney disease such as renal failure (reduced or absent kidney function). Some children diagnosed with Dekaban-Arima syndrome manage to achieve a lot, although this usually only happens later in life.
read more
- Wolfram syndrome: Neurodegenerative disorder
- Bonnet’s syndrome (visual hallucinations)
- Doctor syndrome: Neurological disorder
- Alport syndrome: Symptoms in kidneys, urine, ears and eyes
- Ablepharon-Macrostomy Syndrome (AMS)
