Rectal biopsy in the diagnosis of Kufs' disease [Ruolo della biopsia rettale nella diagnosi di Malattia di Kufs

The diagnosis of adult neuronal ceroid lipofuscinoses or Kufsí disease (KD) is based on the finding of specific cytoplasmic inclusions, fingerprint profiles (FP), curvilinear profiles (CV) and granular osmiophilic deposits (GROD) on rectal biopsy. We performed rectal biopsy in 5 patients with Kufs phenotype, including two with myoclonic epilepsy and dementia, two with dementia and movement disorders, one with late-onset Kufsí disease and in 47 controls. FP were found in 13 subjects, including 5 patients with Kufs phenotype and 8 controls. FP were confined to in a few cytotypes (mostly pericytes and smooth muscular cells). CV or GROD were not found. Cerebral biopsy did not confirm the diagnosis in a patient with Kufsí phenotype and FP on rectal biopsy. Diagnosis of KD is not confirmed by rectal biopsy in patients in which FP are confined in a few citotypes in the absence of CV or GROD.