title: Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.
abstract: OBJECTIVE
  Rectal biopsy is usually performed for in vivo diagnosis of Kufs disease (KD). We evaluated the usefulness of rectal biopsy in the diagnosis of such condition by comparing ultrastructural data of patients with suspicion of KD with those of control subjects. Furthermore, we reviewed literature data concerning the value of such a diagnostic procedure in the diagnosis of KD.
  
  
  METHODS
  Sixty-five subjects were enrolled and underwent rectal biopsy. Of these, 13 had a clinical picture in keeping with KD, whereas 52, affected by Irritable Bowel Syndrome, constituted the control group.
  
  
  RESULTS
  Ultrastructural analysis evidenced fingerprint (FP) inclusions in 12 subjects, 4/13 with suspicion of KD and 8/52 controls. In patients, FPs were mainly located in vascular smooth muscle cells (VSMC) while in controls they were mostly found in pericytes and VSMC. No FPs were found in one patient with genetically confirmed KD. In literature, we identified 14 KD patients who underwent rectal biopsy. In most reports, ultrastructural features were not systematically analyzed or described.
  
  
  CONCLUSIONS
  Fingerprints are the most common ultrastructural finding in rectal biopsy in patients with suspicion of KD. However, their presence in pericytes and VSMC is not specific for KD because they may be found in controls subjects. Our literature review revealed that data on the value of rectal biopsy in the diagnosis of KD are scarce. In light of these findings, the relevance of rectal biopsy in such condition should be re-evaluated.
authors.affiliation: Institute of Neurology, Magna Graecia University, Catanzaro, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Ferlazzo
authors.forename: S
authors.initials: S
authors.lastname: Gasparini
authors.forename: G
authors.initials: G
authors.lastname: Pasquinelli
authors.forename: A
authors.initials: A
authors.lastname: Labate
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: V
authors.initials: V
authors.lastname: Sofia
authors.forename: V
authors.initials: V
authors.lastname: Cianci
authors.forename: D
authors.initials: D
authors.lastname: Branca
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D009131:Muscle, Smooth, Vascular / Q000648:ultrastructure; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000601:surgery; D012007:Rectum / Q000601:surgery / Q000648:ultrastructure*; D012189:Retrospective Studies