Isolated hypoganglionosis in young man with autism

(1)

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

a

a_Oncology_Department,_Clinical_{Gastroenterology,}_AOU_Careggi,_Florence_University_Hospital,_Florence,_Italy b_{Gastroenterology}_and_Digestive_Endoscopy_Unit,_{Bellaria-Maggiore}_Hospital,_AUSL,_Bologna,_Italy c_Division_of_{Gastroenterology,}_AOU_Modena_University_Hospital,_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:[email protected](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