Neuronal ceroid lipofuscinosis juvenile type. Spielmeyer-Vogt disease. Late onset Batten disease.
Incidence
Incidence goes from 0.5 to 4.8/100,000 (Finland). This condition is an autosomal recessive disorder with world wide distribution. The condition begins in the juvenile period and continues having a protractive course.
Clinical Characteristics
The condition starts between the ages of five and ten years and sometimes later, as late as thirteen years and practically never before age four years. The patient has a normal psychomotor development until the beginning of the condition with normal language or mild speech retardation. Then, the patient starts having failure of vision, dementia, dysarthria and seizures which occur in closed succession but any of those symptoms may be the initial or predominant symptom. The first manifestation is usually a decrease in visual acuity which may begin either with central or peripheral visual field defects. It progresses after several years to total blindness. The ophthalmologic findings are somewhat variable. There are changes in the fundoscopic evaluation with retinitis pigmentosa, optic atrophy and degeneration of the macula which is a prominent finding. ERG is absent. Occasional posterior cortical cataract is present. The ERG changes are constant. Intellectual decline is manifested usually in the first two or three years after onset of visual symptoms, and progress slowly to dementia. Common manifestation are short attention span with memory loss and alternate periods of restlessness with quiet behavior. The patient acts psychotic with delussion and hallucination in occasions. Dysarthria is generally observed in late periods. It takes the form of mumbled and slurred speech sometimes with stuttering. Seizures, ordinarily grand mal type, occur several years after visual signs are present. In some patients, they may be the first neurological symptom. They tend to become progressively more frequent but rarely are a major problem. Myoclonic jerks may occur but not as predominant or as an early manifestation as early forms of neuronal ceroid lipofucinosis. Motor dysfunction occur after several years of evolution and patients show generalized extrapyramidal rigidity with concomitant abnormality of posture and locomotion resembling parkinsonian syndrome. This extrapyramidal symptoms and signs associated with loss of vision produce severe disturbance of gait and equilibrium. Choreoathetosis is much less frequent. Cerebellar ataxia may be present but rarely starts early or is a prominent symptom. Pyramidal signs are observed in the late stage of the disease and are usually symmetric. EEG shows abnormalities in all cases and may precede the onset of seizures. The EEG shows diffuse bursts of slow waves or slow spike and wave activity superimposed with a background of disorganized activity. Low frequency photostimulation do not produce the high amplitude occipital spikes seen in earlier onset NCL. Visual evoked potential and sensory evoked cortical responses are reduced. White cells in peripheral blood contain abnormal inclusions such as translucent vacuoles in 20% of lymphocytes and azurophilic hypergranulation in neutrophils. With progression of the condition, the patient is totally blind and paralyzed as well demented and death occurs after 10 to 20 years of progression.
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
White cells in peripheral blood contain abnormal inclusions such as translucent vacuoles in 20% of lymphocytes and azurophilic hypergranulation in neutrophils. EM from skin, lymphocyte or rectal biopsy shows fingerprint and curvilinear (also granular?) inclusions.