THE STURGE-WEBER SYNDROME

By M. E. WHITE, M.B., D.P.M.

Shenley Hospital, Herts.

T HE fallowing is ,a case of Sturge-Weber syndrome in which the distribution of the cutaneous naevi is unusually diffuse.

Case Report : Carol I-I., born 22/6/57 is the first child of an I r i sh couple who emigrated to Canada when the m o t h e r was 6 m o n t h s pregnant . The m o t h e r was 20 and the fa ther 29 when the child was born. They have since re turned and a normal child was born, 16/4/59.

F a m i l y His tory : A pa te rna l uncle of the m o t h e r is a chronic hospital ized hehephrenic schizophrenic and a ma te rna l uncle is men ta l l y retarded. Her b ro ther had fits unt i l he was 1 year old.

Pregnancy : Ear ly nausea occurred and a t 6 m o n t h s m o t h e r fell on her abdomen. Later in the p regnancy she was t rea ted successfully for modera te hypochromic anaemia. Labour was one week overdue and the child, who weighed 9 lbs. 2 ozs., was delivered by forceps.

In fancy : The h a e m a n g i o m a was noted at bi r th . I t had the following dis t r ibut ion. The r ight side of the face, scalp, mucous m e m b r a n e s in the m o u t h and the tongue were involved. The naevi crossed the midl ine sl ightly at the chin and also the neck. F rom the r igh t uppe r t runk the naevi crossed f rom the f ront across to include the left side poster ior ly extending to involve bo th but tocks . The r ight leg and a rm to the t ips of the l imbs are also involved. As there appeared to be no other abnorma l i ty the child was discharged in 1 week. The mo the r breast fed the baby.

At 7 weeks the child was admi t t ed to hospi ta l wi th severe left sided clonic convuls ions . The fits were control led by d i lant in grs. 3/8 t.d.s, and phenobarb i tone grs. ½. An x-ray of the skull a t th is stage showed no calcification or other abnormal i ty .

At 4 m o n t h s the child was readmi t ted as she was having as m a n y as 30 fits a day. Dur ing this t ime acute g laucoma was diagnosed and t rea ted wi th I)i locarpine 2%. The r ight eye alone was affected.

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I t was repor ted t ha t the child showed signs of a " slight " hemipares is of the left side of the body, bu t no indicat ion t ha t the child was men ta l l y re tarded seems to have been present . An E.E.G. (Seconal grs. 3) at th i s stage showed the following. The left hemisphere showed modera te vol tage fast wave act iv i ty together wi th a good deal of i rregular slow. The r ight hemisphere was a lmost fiat conta in ing only a trace of fast ac t iv i ty and a l i t t le very low voltage very irregular slow. The conclusion was tha t the record suggested art ex t remely widespread dis turbauce of the r ight hemisphere wi th practically no funct ioning cerebral tissue. The left hemisphere is relatively normal .

At 6 m o n t h s a classical r ight t empora l l o b e e t o m y was preferred. Pathological examina t ion of the excised par ts showed enlarged vessels in the meninges fo rming a haemangioma. The cerebral cortex showed little a t rophy.

Pos t -opera t ive ly her left sided hemiplegia became more marked, bu t the fits were infrequent and easily controlled wi th ant iconvulsants . I t was noted t ha t the child's menta l develop- m e n t was retarded.

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A t 3 y e a r s o f age she was a d m i t t e d to t h e F o u n t a i n Hosp i t a l , t h e p a r e n t s h a v i n g r e t u r n e d f r o m C a n a d a . T h e d i s t r i b u t i o n o f t h e n a e v i was n o t e d to co r re spond to t h e ear l ier de sc r ip t i on a n d t h e e r a n i o t o m y scar was p r e sen t on t he r i gh t side. C.I~.S. e x a m i n a t i o n showed a m i l d h e m i p a r e s i s w i t h i n v o l v e m e n t o f t he lef t s ide a n d t he le f t p l a n t a r r e sponse was ex t enso r . Occas iona l r o t a r y n y s t a g m u s was p resen t . I t was diff icult to assess t h e v i sua l fields.

Eyes : Megalocornea . S o m e pal lor o f t h e opt ic discs o the rwise n o r m a l . The re was also a n a l t e r n a t i n g c o n v e r g e n t s t r a b i s m u s .

Mental development : She is able to s i t u p u n s u p p o r t e d a n d bea r we igh t on r i gh t leg i f s u p p o r t e d . She sees a n d hears , b u t he r o n l y u s e for ob jec t s is to exp lo re t h e m wi th h e r m o u t h . She does n o t voeal ise , h a s to be s p o o n fed a n d is doub le i n c o n t i n e n t . H e r a s s e s s m e n t a t t h e age o f 3 y e a r s 1 m o n t h on P i a g e t S.M. r eaches S tage 3. H e r m a n i - p u l a t i v e ab i l i ty a p p e a r s to be a b o u t t h a t of a ch i ld f r o m 3 to 6 m o n t h s old a n d t h i s s e e m s to be a t t h e id io t - imbec i le border l ine .

X-ray of skull : Showed ev idence o f t h e old os t~oplas t ic flap resec t ion on t h e r i gh t s ide o f t h e skul l w h i ch was a s y m m e t r i c , as is t h e facial ske le ton . F r o n t a l s inuses absen t .

X-ray chest : Sugges t s e n l a r g e m e n t o f t h e t h y m u s g land . X-ray spine : T h e r e is s l i gh t d o r s o - l u m b a r scoliosis. A sp ina bi f ida oceu l t a is

s u g g e s t e d in L5.S1. region. E.E.G. : Sleep record 27/3/61. (Seeonal g r s . 3.) A c t i v i t y recorded over t he r i g h t

h a l f o f t h e skul l was o f v e r y low vo l t age for m o s t o f t he t i m e , b u t on one occas ion a b r ie f b u r s t o f 1½ seconds sp ike a n d w a v e appea red . A c t i v i t y on t h e le f t was m o d e r a t e v o l t a g e 2 - 4 c. p e r second w a v e s m i x e d w i t h low vo l t age fas te r w a v e s in t h e f ronto- t e m p o r a l regions . The re was no ev idence o f focal les ion on t he left . T h i s E .E .G. ~esembles one t a k e n j u s t p o s t - o p e r a t i v e l y a n d t h i s ind ica te s t h a t t he r e h a s been l i t t le d e t e r i o r a t i o n s ince t h a t t i m e .

E p i l e p s y is n o w well con t ro l l ed w i t h E p a n u t i n grs. ~ b.d. a n d P h e n o b a r b i t o n e gr. 1 b .d . P a t i e n t h a s h a d 5 fits m o s t l y in success ions o f two or t h ree l a s t i ng 10-15 m i n u t e s d u r i n g las t 3 m o n t h s .

Discussion This case presents characCeris~ic cutaneous angiomatosis, glaucoma,

menCal re tardat ion and hemiparesis with epilepsy that are present in most cases of Sturge-Weber syndrome. Since the l~beetomy v~as carried out in early infancy there was little time for gyr i form calcifications to occur; however, the operation performed at six months confirms the presence of cerebral haemangi~matosis.

In a review of seven cases, Alexander and Norman (1960) find them- selves in agreement with Weber (1955) who advocated the term " eneephalofaeial angiomatosis " as a suitable descriptive label for this syndrome. A number of eases, however, have been described in which the naevi extend beyond the facial region. Louis-Bar has discussed the forme fruste in which this more diffuse distri~bufion occurs. Cox and Trumble (1939) descri,bed a fa i r ly typical case with diffuse cutaneous angiomatosis in a woman of 38 but without the cerebral calcification. The case of Oarol H. presents this diffuse distribution in a pat ient showing the typic~al signs of the syndrome and it would therefore seem misleading to describe all cases of S turge-Weber syndrome as " enceph,alofa'cia'l angiomatosis "

Acknowledgments I wish to t h a n k Dr . B. K i r m a n for h i s p e r m i s s i o n to pub l i sh t h i s case.

References Alexander , G. L. a n d N o r m a n , R . N. (1960). Sturge-Weber syndrome.

~ons. Cox a n d T r u m b l e (1939). Med. J . Aus . , 2, 308. Louis -Bar , D. (1944). Confln. neurol., 6, 1. - (1945). Ibid., 6, 255. Weber , F. P . (1922). J. Neurol. Psychopath., 3, 134.

J o h n W r i g h t &