Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early-onset colonic diverticular disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10413901" target="_blank" >RIV/00216208:11110/20:10413901 - isvavai.cz</a>

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=y_EJQnjR.I" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=y_EJQnjR.I</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/nmo.13917" target="_blank" >10.1111/nmo.13917</a>

Result language

angličtina

Original language name

Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early-onset colonic diverticular disease

Original language description

Background: Lipomatosis of nerve (LN) is a complex peripheral nerve disorder characterized by fibrofatty nerve enlargement. MRI of this pathology is pathognomonic and obviates a diagnostic biopsy. Mutation in PIK3CA has been associated with LN cases with nerve-territory overgrowth which may occur in some cases. We evaluate an association of LN of the sciatic nerve and early-onset colonic diverticular disease and discuss the potential pathogenesis. Methods: Our institutional database was searched for LN cases. Available information of identified cases was reviewed, and cases with a confirmed diagnosis of LN affecting the lumbosacral plexus and/or sciatic nerve; available MRI of the affected nerve(s); and diverticular disease occurring in the area supplied by the nerve(s) affected by LN were further analyzed. PIK3CA mutation testing was performed on available tissue samples. Results: We identified 10 LN cases of lumbosacral plexus and/or sciatic nerve. Of these, three fulfilled our inclusion criteria. All three patients had concomitant colonic diverticular disease, diagnosed at a relatively young age. MRI studies of these cases showed LN involvement of the sacral nerves innervating the sigmoid colon. All three also had abnormal diagnostic workup including various GI tests and evidence of associated nerve-territory overgrowth. Colonic tissue samples for PIK3CA mutation were negative. Conclusion: While the pathogenesis of the colonic diverticular disease is increasingly recognized as being multifactorial, our observations are consistent with the potential role of autonomic nervous system dysfunction affecting either the pelvic floor musculature, or the colon itself (or both) in a subset of patients with early-onset diverticular disease.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30224 - Radiology, nuclear medicine and medical imaging

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neurogastroenterology and Motility

ISSN

1350-1925

e-ISSN

—

Volume of the periodical

32

Issue of the periodical within the volume

10

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

e13917

UT code for WoS article

000541399500001

EID of the result in the Scopus database

2-s2.0-85087312591