Causes and risk factors
This condition is an inherited disorder. It is characterized by the buildup of an abnormal material called lipofuscin in the brain. The inheritance pattern is autosomal recessive which means one should inherit the defective gene from both parents to develop this condition. There are several types of this condition of which the three main types are as follows – CLN1 – Adult [Kufs or Parry’s disease], CLN3 – Juvenile [Batten disease], CLN2 – Late infantile [Jansky-Bielschowsky disease].
Clinical presentation
Patient presents with problems regarding vision. There is intellectual disability. Lack of muscle coordination is observed. Myoclonus can occur [muscle spasm or increased muscle tone]. There can be choreoathetosis [movement disorder]. Ataxia may occur. Patient may suffer from seizures. Dementia can occur. There may be permanent loss of vision. Retarded head growth with cognitive dysfunction, spasticity, learning disabilities can be seen. Depending upon the type, morbidity and mortality is very high in this condition.
Investigations
Medical history by the patient and clinical examination by the neurologist helps in diagnosis. An MRI or CT scan of the brain is required. EEG, Electroretinogram is advised. Genetic testing is recommended. Autofluorescence testing is done.
Treatment
No specific treatment is available for this condition. Anticonvulsants are prescribed for seizures. Bone marrow transplant is carried out in some cases. Many other treatment options are still in the experimental phase.
Complications
Complications such as epilepsy, disability, loss of vision, and a reduced lifespan can occur.
When to Contact a Doctor
One must consult a doctor if patient experienced symptoms such as weakness of limbs, reduced or loss of vision, etc.
Prevention
Genetic counseling and prenatal testing may help to prevent the disease.
Systems involved
CNS, musculoskeletal system, locomotor system
Organs involved
Brain, eyes, extremities, muscles
