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The Mongolian Idiot

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The Mongolian Idiot \ Ma THE MONGOLIAN IDIOT A PRELIMINARY NOTE ON THE SELLA TURCICA FINDINGS WALTER TIMME, M.D. N EW YORK R epriutcd from the Archiv es of N eHrology a11d Psychiatry M ay, 1921, Vo l. V, pp. 568-571 CoPYRIGHT , 1921 AMERICAN MEDICAL Asso c iATION FrvE H uN DRE D AN D TniRTY·l-;- IVE N o RTH DEARBORN STREET CH ICAGO THE MO!\GOLI.\ .\" IDIOT .\ I'l~ I:LI :1111'\ AR 1 l\ OT E 0:\ THE SCLL.\ T lj J{ C I C \ FJ ND l NGS \\":\LT E IZ Tl.\1.\IL. :-LD . ::-i E\\' \."O IU.: In the past year it ha ~ beei1 my g reat pri vil ege to exami ne a num ber o f :\longolian defecti1·es at \\·a ,·erl e)· . :\I ass., at the im·itation o f Dr. \\.alte r .! ~ . Ferna ld. T he case reports, complete clinical data, biochemical find ings a nd the resul t of t reatment on a n endocrinologic basis \\·ill be the substa nce of a later communication by Dr. F e rna ld a nd myself. 1 desire to ma ke at this time a p relimina ry p ublication of t he find ings of the roentgenologic examination of many of the skulls for the reason that it may stimulate the ma king of such examina tions in many centers with possibl e corrobo ration of my findings. F urther­ more. if necropsy mate ri a l is avail able, a specia l effort mig ht be made, on the basis of the sell ar changes shown in the ra d iographs. to deter­ mine the pathology of the pituita ry body . In twenty-three out of twenty-four nonselected cases of :Mongoli an idiocy, includ ing six of my o wn, the radiograph of the skul l showed a peculia r cha nge from the no rma l in the a nterio r portion of the fossa pituitaria. T his change consisted in an excavati on under the a nte ri o r c1 i noid processes a nd presumably under the a li va ry process ;mel optic g roo,·e . and the excavation communicated directly w ith the ante ri or portion nf the fossa itself. There were 1·a rying degrees of this cxcanl­ tion . as seen in the accompanying illustra ti ons. F rom our kno \\·leclge. more o r less exact. of the infl uence of the a nte ri o r lobe of the p ituitary o n g rowth a nd genita l development, t hi s roentgen-ray findi ng is of cons iderable interest. E specia ll y is this t r ue when we remembe r that a mong the clinical sig ns of M ongoli a n idiots we invariably ha,·e the combination of subno rma l and d ispro po rtionate body g rowth coupled w ith lack of geni tal development. Thus in boy . undescended testicles a re quite f requent a nd in g i.rl s abnormali ties of the genitals with tardy m enst rua l fl ow or eYen complete a meno r rhea are the rule. The intimate relationshi p which in early life exists bet11·een the a nterio r hypophysial lobe and the pha ryngea l glandula r elements is a lso st rikingly coinci­ dental w ith the extreme pharyngeal mucous secretion seen in Mongoli a n idiots. F urthermore. w ith such a n exe<t\·at io n. involving at times the o ptic g roO\·e, eye symptoms should be of frequent occurrence. These ocular manifestations have been th e subject of much discussion a mong ophthallllologists ·a nd a rather complete re,;ume of their fi nd ings was publi shed some Yea r" ago by C harles A. < lli Yer.' Among the finding,; a re: 1. ( )! i,·er. C. :\. : \fed. Rec .. Oct. .1. 189 1. fiG.3 FIG.6 Fig . I ( T . .).. g irl. \\"a,·erley) .- T he sell a turcica is rather genera ll y enla rged with a ma rked exca,·at ion a nter io rly opening directly into the genera l pi tu itary fossa. Fig. 2 ( S. H .. g irl. a uthor's pat ient) .- Anteri or e xcavat ion prominent and even somewha t la rger tha n th e pi tuita ry fossa itself. F ig. 3 (T . S .. boy. \Vayerl ey) .- S imilar to Fig ure 2. F ig. 4 (L. H .. g irl. author's pat ient) .- Anter ior excavati on ra ther d ifferent from fo rego ing in that while it is ia ir ly long. its w idth is less. Fig. 5 ( E. M ., g ir l. W a,·erley).- S imila r to F ig ure -t . \\' ith a narrO\\' and ra ther short cav ity a nteri orly. F ig. 6 (Ch inese girls ).- :\.. rmal sell a turc io . ]( ind ness of Percy .-\shley. ''The optic di scs in a number of ca~es a re uneq uall y g rayed . e~pe­ ciall y in the deeper layers and to the te mporal sid e>'; the substa nce of the d isc in the great maj ori ty of cases, especial ly \\·here the retinal and choroidal di sturba nce was not pronounced. is apparently edematous; the r etina surrounding th e opti c nen ·e head is edema tous and swoll en in many of the cases ; examination for Yisua l fie ld di sturbances coul d ne1·er be properly carried out through lack of cooperati on. "' A. E..xc. FIG. I TIG.4 r=.x.c' FIG.5 , P. .. ' E..J..C. FIG . .3 FIG.6 Fig. 7.- Diagrams ill ustra ting sell a photograph s. A. a nterior clinoid process. P. pos ter io r cli noid process; Exc .. excavation. Theo retically, there fore, di sturbance o f the anteri or portion o i the pituita ry body might . readily produce many of the symptom s sho1Yn cl ini call y by Mongoli an idiots. It is therefore suggested that e1·ery necropsy examination in cases of :\Iongolian id iocy ~ h o uld in clude a cat·eful examination of the pituita ry gland . notably in its ant"e ri or por­ tion. Should such an e.xa mination e1·e ntuate in a corroboration of 4 a ntemortem findings, p e rh a p~ a rationa l treatment mi ght be fo rth­ coming fo r these cases. J ndeecl. even on the theoretical basis oi anterior lobe d isturbance, the 1niter has inaugurated a therapy in se1·e ra l of hi s cases which has had some degree of success thus fa r. ln one of his Mongoli a n id iots the testicles have descended sin ce treat­ ment was begun. and there seems to be a measure of mental imp rol·e­ ment likewi se. T hi s treatment in cludes the hypoderma ti c injections of anteri o r lobe extract ( antuitrin) combined with whole gla nd feeding a nd thy roid administration in small doses. It is important to obser Ye. ne1·e rtheles , that exca1·ation under the anterior clin oids a nd optic g roo1·e is seen occasiona lly in persons who ha1·e not Mongoli an characte ri stics. but wh o have isola ted symptoms and signs due to a nt eri or lobe disturbance. namely. g rowth and geni tal cleYelopmental abnorma I i tics. Specul ation as to the cha racter o f the contents of thi s excavation 11· ould at the present be idle. S uffice it to say. however. that on theoreti cal g rounds it should be ti ssue foreign to the normal anterior lobe type a nd possibly interfering with whatever of normal structtu·e may rema in in the region. T he re is in cluded in the series of photographs accompanyi ng t hi s communication one of a Chinese gi rl , 13 years of age. who is normal in a ll ways, in order tha t a compari son may be made of her sella tu rcica with that of the Mongoli an idiot. It wi ll be seen that in her skull th pituitary fossa seem s to be normal in a ll particul a rs, howeYer different the other skull la nd ma rks m ay appea r to be. F rom time to time observers have been adding additiona l findings in their repo rts on Mongolian idiocy, but the e findings have been p racticall y a ll in the symptomatologic doma in . The p resent report of the sella r changes, if substantiated by the necropsy examination, is of quite a d ifferent nature. for it f urnishes at once a basis for the struc­ tura l changes of the M ongoli an idiot and for the greater part of his symptomatology. and hence must be regarded as one of the funda­ mentals of the sit·uation. F urthermore. it offers a n a ngle o f attack in therapy. .
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