title: Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion.
abstract: In most cases of hereditary neuropathy with liability to pressure palsy (HNPP) the diagnosis is now assessed by molecular detection of 17p11.2 deletion. However, the family history may be missing and the clinical presentation is not always informative. In such cases, a peripheral nerve biopsy showing the characteristic focal myelin sheath thickening ("tomaculae") may be helpful. We present a retrospective study of peripheral nerve biopsies performed in 19 patients suffering from either a mononeuropathy or a generalized sensory-motor polyneuropathy, and for whom the finding of tomaculae led to a search for 17p11.2 deletion, which was confirmed secondarily. Tomaculae and other coexisting neuropathological lesions such as uncompacted myelin, "onion bulb" formations, and axonal degeneration are described and discussed in the view of previously reported data. It appears that demyelinating lesions with tomaculae are strongly suggestive of HNPP but are not specific as they may be observed in other conditions. Moreover, these features may be overlooked if axonal degeneration is marked.
authors.affiliation: Department of Neuropathology, Laboratoire de Neurobiologie des Affections de la Myéline, Victor Segalen-Bordeaux 2 University, Bordeaux, France. anne.vital@neuropath.u-bordeaux2.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Vital
authors.forename: Claude
authors.initials: C
authors.lastname: Vital
authors.forename: Philippe
authors.initials: P
authors.lastname: Latour
authors.forename: Xavier
authors.initials: X
authors.lastname: Ferrer
authors.forename: Marie
authors.initials: M
authors.lastname: Rouanet-Larivière
authors.forename: Christiane
authors.initials: C
authors.lastname: Brechenmacher
authors.forename: Alain
authors.initials: A
authors.lastname: Lagueny
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D001706:Biopsy; D002886:Chromosomes, Human, Pair 17; D003711:Demyelinating Diseases / Q000235:genetics / Q000473:pathology*; D005260:Female; D017353:Gene Deletion; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009186:Myelin Sheath / Q000473:pathology* / Q000648:ultrastructure; D012189:Retrospective Studies