A Case of Va roxysmaI Ionic Upward Gaze Associated with Psychomotor Retardat i on s\ x I CJ rg m t-CCI Ouvrier and Billson (1988) were the first to report four cases with paroxysmal tonic upward gaze associated with benign clinical outcome. Several criteria were proposed by those authors: onset in infancy, tonic conjugate upward eye-dcviation, downbeat saccades, normal horizontal eye-movement, relief after sleep and minor neurological symptoms, including ataxia or clumsiness. We report a patient presenting with frequent paroxysmal upward gaze which occurred in infancy. similar to Ouvrier and Billson's cases; however. our patient also showed moderate developmental retardation and abnormal neuroradiological features. Case report -2C 362 This patient was the product of a normal pregnancy and delivery. At the age of four months, she developed paroxysmal upward deviation of the eyes. She was diagnosed elsewhere as having epilepsy and placed on phenobarbitone. with no improvement. At six months, she was referred to us for further evaluation of her abnormal eye movement. On examination, numerous upward eyemovements were observed. They were characterized by intermittent upward deviations of both eyes, appearing in clusters for 10 to 30 seconds, and lasting for hours. During each episode. she showed compensatory forward tilting of the head, as if to allow her to look at objects before her (Fig. I ) , her facial exprcssion was vacant, and she was quite still; she also had downbeat nystagmus. Despite the frequcncy of the episodes. her daily activities. temperament, appetite and sleep-wake cyclcs were undisturbed. 'I'runcal ataxia was evident occasionally when she was in a sitting position. Her mother reported that the episodes appeared to be exacerbated by fatigue or febrile illness. and relieved by sleep or rest. In addition. when her body was moving at velocity. for example during a car journey, the frequency o f her upward gaze seemed to increase. Neurological examination revealed mild hypotonia and a dull facial expression. All deep tendon reflexes were decrcascd. No significant muscle weakness was demonstrated; however, observation of her voluntary movements and an asymmetric parachute reaction showed that she had mild left hemiparesis. Ophthalmological examination revealed internal strabismus. but was otheryise normal. hiKi o f the head showed bilateral periventricular leukomalacia and poor myelination, particularly in the subcortical frontal white matter i (Fig. 2 ) . Simultaneous ~ : c video-monitoring revealed n o paroxysmal discharges during the episodes of eye deviation. To exclude complex partial seizures from the differential diagnosis, we commenced treatment with carbarnaxpine; n o significant improvement was noted. A trial with sodium valproatc, phenobarbitonc and zonizamide, successively, had n o effect o n the episodes. nor did treatment with 50mg levodopa and 5mg carbidopa. At one-year follow-up, her episodes of upward gaze had spontaneously decreased in number. Discussion Several case reports have been published since Ouvrier and Rillson’s paper in 1988 (Ileonna er (11. 1990, Echenne and Kivier 1992, Campistol cr (11. 1993 Gieron and Korthals 1993. ) (Table I). The problem of whether our case can be considered t o have the same disorder described by Ouvrier and Billson lies in the fact that she had (1) apparent ncurodevelopmental abnormalities, and (2) abnormal skull X1RI. As shown in Table 1, neurological abnormalities-including mental retardation. motor retardation and seizureshave been demonstrated in the literature, so the association of these might not rule out the same diagnosis. Epileptic 363 Outrier and Billson (1988) Case I 7mths F Cae 2 8mths F Case 3 20mths hl Case 4 IOrnths hZ Deonna e / nl. ( 19YO) IOniths Normal Normal Piorma1 Norrnal Nornial Normal Noririal Normal Noriiial Normal Normdl Noriiial Cy\iic librow. ataxia Normal Normal M Clumsine\s bl hl Ataxia during fchrile i l l n w Menial retardation Norlid Kormal No r 111;I I Normal Norni;il Normal F Psychomotor retardation. ataxia Ahnornial K; M a u t a k a Ira, MD: Satohhi lsurui. MD: Hiroyuki Kawamura, %ID; H3zuini Yamarc. ORI': Makoto Ogasawara. 01; Cnivcr\ity School ol' illedicinc, tlainamatsu. Yukino llatsui, PI': Department\ ot Pcdiarric Seurology and Ophth~linology. and N e u r ~ m u r c u l n r 1.ahoratory. tlamamatw City Medical Center f o r Dcveloprnenul Mcdicinc. I ~ a i n a n i a ~ w :aiitl Pediatric\ and Dcp;irlmeni\ 0phth.ilniology. (11 ffarii;irnat\u *C'orrerpoiit/~,iic.c,/o fir\/ rriirhor at Department of Petliairic Neurology and Neuromu~cular 1.aboratory. tlarnarnatsu City Medical Center for Ikvclopmcnlal Xledicine, 775- I Takainno. H;icnahita City 434. Shiruoka. Japan. S UIMiMAK Y The authors report a female with p:iroxycni;tl tonic tipwird gaze similar to the cases reported by Ouvricr and Hill\on ( I Y X X ) . She developed ahnorrnal eye-rnovcments at the age o f six nionrhs. Several anticonvulsants a d levodopa wcrc not effective in the control of the episodes; however, her upward eye-deviationi sponrancously decrcaicd during the one-year observation, Her clinical features were almoct idcnlical t o those reported by Ouvrier and Billson, except that she had ncurodcvel~pnienti~l disorder iind ahnormal hrain M K I . Morc data are required to clarify this unique phenomenon. UriSUMfi UII cris cl 't;/t;vtiiioii piirot~sfiqiirroriiqirr tlic rcytrrtl \ v r s lc I i i r u r i t s s o c i c c i IOI rcmril t t w i t u l L'article decrir une fillette nvec u n rcgiird pawxyctiquc toniquc vcrs Ic haut scrnblablc aux descriptions rapportkes par Ouvricr ct Billson ( 1088). E l k dl.vcloppa dcs mouvenients anormaux des yeux a l ' i y c dc six mois. Plusicurs anticomitiaux el la I.-dopa sc montrerent inefficaccs dans le contrble des episodes: en revanche. la tentlance au regard vcrs Ic haut diniinua spontanhwnt durant I'ohservation d'un ;in. Le\ cnractk-istiqucs cliniqucs Ctaicnt pratiquemcnt idcntiques i celles rapportkes par Ouvricr ct Hillson, I'cxccption d'un trouhle neurod~vcloppemcntalct d'un ccrvcau anornial i I'IKM. Dcs donnccs suppl6nientaircs scront nkccssaircs pour clarifier ce ph2nomCnc unique. ZUSAb1,MENFASSUNG Eitl Fill/ I l l i f pi'"~.r\"ltltrlrllr. r o l l ~ . \ c ~ / l ~Hlic4 ~ t l f rrrrl~lr o b c ~ t r/ I l l ~ l l , ~ l l l t f l l f ~ ~ l lnlir / / f l gc~iStigP" t/~~ Kercirrlic~rrrri.q Die Autorcn hcrichtcn lihcr cine Patisntin tnit paroxysmalem toni\chcni Hlick nach ohcn. iihnlich wic bei den von Ouvricr und Billson ( 1988) heschricbcnen Fallen. Sic cntwickcltc ahnorme Augenbcwegungcn in1 Alter von sechs .Monatcn. Mchrcrc Aniikonvulsiva und I.e\~odopakonntcn die Iipisoden nicht untcr Kontrollc hrinycn; inncrhalh dcc cinjiihrigen Rcohaclitunfs7eitraumes wurdcn ihre nach ohcn ahweiclicndcn Augcnbewcgungcn jedoch spontan gcringcr. lhre klinischcn Hcfundc cntsprachcn dcncn, dic von Ouvricr and Billson beschrieben wurdcn, aulJcr daO sic noch cine entwicklungsncurolc,fischc W r u n g und cin ahnorrncs lIirn-\1Kl hatte. Es sind w i t e r e I M e n zur Kliirung dicses einrigartigcn Pliiinornenc erfordcrlich U ESI! MEN (/ti m s n dr rles ~~itrc.itirrpittii.ti.sliccc cli, lo ttiirridii Iracici trrrihcr. cc.\ric.icrcltr (I rt'tt-mo p.\icwtttotor Los autores itportan el caso dc una niiia con acccsos paroxisticos de dcsviacitin de la mirada hacia nrriha, semcjanfec a 10s rcferidos por Ouvricr y Hillson en 1088. lniciti l o s movimicnros oculares anornialcs a 10s x i \ m c w c de cdad. Diversos anticonvulxivantes y Icvodopa fucron ineficaccs para controlar cstos cpisodioc. Sin embargo 13s dcsviacioncs de 1:1 mirada hitcia arriba disrninuyeron cspontincarncnte a lo largo dcl aiio de ohscrvaci6n. L a clinica era casi idkntica a la aportada por Ouvrier y Billson. evccpto qnc t e n h una altcracitin dcl ncurodcwrrollo y una IKM anbmala. Haccn falta nilis datos para esclarcccr cste fcn6mcno unico. 36.5