Neuronal ceroid lipofuscinosis adult type. Kufs disease.
Incidence
It is inherited as an autosomal recessive trait, but most cases are sporadic. May be also dominant in some families.
Clinical Characteristics
This rare disorder starts as late as the third or fourth decade but may start as early as 3 years of age, in childhood or adolescence.. EEG shows various uncharacteristic changes. There is a marked response to photostimulation, showing high amplitude spikes synchronous to flashes at low frequency. The ERG is normal. It may present in two different clinical types. Type A (progressive myoclonic epilepsy and neuropsychiatric changes) which presents with epilepsy, myoclonus, ataxia, dementia, and extrapyramidal signs and type B which presents with behavioral disturbances, dementia, facial dyskinesia and various motor abnormalities. There are no retinal changes nor blindness in Kufs disease. The diagnosis rests in the EM analysis of biopsy of skin especially sweat glands, muscle or myenteric plexuses which reveal intralysosomal accumulation of curvilinear profiles, fingerprint-like deposits and other lamellar inclusions. These should be interpreted with caution because occasionally same findings may be found in normal cells. Most cases are sporadic.
Precipitants
no.
Provocation Tests
There is a marked response to photostimulation, showing high amplitude spikes synchronous to flashes at low frequency.
Diagnostic Procedures
The diagnosis rests in the EM analysis of biopsy of skin especially sweat glands, muscle or myenteric plexuses which reveal intralysosomal accumulation of curvilinear profiles, fingerprint-like deposits and other lamellar inclusions. There is a marked response to photostimulation, showing high amplitude spikes synchronous to flashes at low frequency.