DigestiveandLiverDisease49(2017)104
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Digestive
and
Liver
Disease
j o u r n a l ho me p a g e :w w w . e l s e v i e r . c o m / l o c a t e / d l d
Image
of
the
Month
Isolated
hypoganglionosis
in
young
man
with
autism
T.
Gabbani
a,∗,
M.
Marsico
b,
M.
Marocchi
c,
M.R.
Biagini
aaOncologyDepartment,ClinicalGastroenterology,AOUCareggi,FlorenceUniversityHospital,Florence,Italy bGastroenterologyandDigestiveEndoscopyUnit,Bellaria-MaggioreHospital,AUSL,Bologna,Italy cDivisionofGastroenterology,AOUModenaUniversityHospital,Modena,Italy
A30-year-oldautisticman,presentedrecurrentsub-occlusive episodessincefiveyears.TheCT-scansuggestedabowel obstruc-tion due to volvulus of sigmoid colon with a marked gaseous distention of the right colon inducing liver dislocation on the leftandvenacavacompression(Fig.1).Acolonoscopywas per-formedtoderotatethevolvulus.However,fortheappearanceof megacolonuptoadiameterof16cm,atotalcolectomywas per-formed.Histologicalexaminationshowedaframeworkofintestinal hypoganglionosis(Fig.2).
Isolatedhypoganglionosis(IH)isararevariantofintestinal dys-ganglionosis(5%),usuallydiscoveredininfancyorchildhood.
Thisconditionshowsamarkedlydecreasednumberandsizeof myentericganglia,surroundedbyCD3andCD4-positiveT lympho-cytes,withabsentorlowacetylcholinesteraseactivityinthelamina propriaaswellashypertrophyofmuscularismucosaeand circular-muscle.Adeficient expressionof c-Kit positive interstitialcells ofCajalandareducedexpressionofNCAM-positivenervefibers
Fig.1.
Fig.2.
∗ Correspondingauthor.
E-mailaddress:tom.gabbani@gmail.com(T.Gabbani).
weredescribed.Furthermore,thepresenceofantineuronalnuclear proteinantibodiesoftheANNA-1(anti-Hu)typewasdescribedin absenceofparaneoplasticsensoryneuropathy[1].
IH disease usually present severe enterocolitis or chronic constipationand recurrentpseudo-obstruction.Volvulusasfirst presentationisrare.Noassociationwithautismisreported.The diagnosisofIHcanonlybeestablishedbyhistopathologicalstaining offull-thicknessbowelspecimens.
Ethicalstandardsstatement
Thewrittenconsenttothepublicationofthepatient’spersonal andclinicaldatawasprovidedtotheauthorsbythelegaltutorof thepatient.
Reference
[1]DoMY,MyungSJ,ParkHJ,etal.Novelclassificationandpathogeneticanalysis ofhypoganglionosisandadult-onsetHirschsprung’sdisease.DigestiveDiseases andSciences2011;56:1818–27.
http://dx.doi.org/10.1016/j.dld.2016.10.002