Electroencephalographic findings in Kufs disease.

OBJECTIVE

To characterize the electroencephalographic (EEG) findings in patients with Kufs disease, the adult autosomal recessive form of neuronal ceroid-lipofuscinosis.

METHODS

We reviewed the EEG findings in 5 patients with biopsy-proven Kufs disease from our institution and 14 case reports of Kufs disease in the literature. The criteria used for patient inclusion were clinical evidence of a progressive neurodegenerative disorder, biopsy-proven evidence of Kufs disease, and EEG recordings during the course of the illness.

RESULTS

One patient had phenotype A with generalized atypical spike and slow wave complexes and marked photoparoxysmal responses, particularly at low flash frequencies. Three patients had phenotype B with generalized slowing. One patient in the miscellaneous category showed focal sharp and spike waves and quasi-periodic slow waves maximal over anterior regions of the head. Review of the literature identified 14 case reports that met the inclusion criteria.

CONCLUSIONS

The inheritance, mechanism, and manifestations of Kufs disease are not well understood. EEG findings may guide clinicians toward a confirmatory pathological diagnosis and distinguish various phenotypes of this disorder.

SIGNIFICANCE: The EEG may assist in the diagnosis of Kufs disease.