Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
E FerlazzoUmberto Aguglia

Abstract

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. 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. 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. 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 becau...Continue Reading

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Citations

Jun 28, 2015·Neurology·Laura CanafogliaSilvana Franceschetti
Jul 5, 2015·BMC Neurology·Roberto Di FabioFrancesco Pierelli
Nov 10, 2017·The International Journal of Neuroscience·Cui WangLiang Ming
Dec 19, 2018·Brain : a Journal of Neurology·Samuel F BerkovicStirling Carpenter

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