The sturge-weber syndrome

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  • 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 Ir ish couple who emigrated to Canada when the mother was 6 months pregnant. The mother was 20 and the father 29 when the child was born. They have since returned and a normal child was born, 16/4/59.

    Fami ly History : A paternal uncle of the mother is a chronic hospitalized hehephrenic schizophrenic and a maternal uncle is mental ly retarded. Her brother had fits until he was 1 year old.

    Pregnancy : Early nausea occurred and at 6 months mother fell on her abdomen. Later in the pregnancy she was treated successfully for moderate hypochromic anaemia. Labour was one week overdue and the child, who weighed 9 lbs. 2 ozs., was delivered by forceps.

    Infancy : The haemangioma was noted at birth. I t had the following distribution. The r ight side of the face, scalp, mucous membranes in the mouth and the tongue were involved. The naevi crossed the midline slightly at the chin and also the neck. From the r ight upper trunk the naevi crossed from the front across to include the left side posteriorly extending to involve both buttocks. The right leg and arm to the tips of the l imbs are also involved. As there appeared to be no other abnormal i ty the child was discharged in 1 week. The mother breast fed the baby.

    At 7 weeks the child was admitted to hospital with severe left sided clonic convulsions. The fits were controlled by di lantin grs. 3/8 t.d.s, and phenobarbitone grs. . An x-ray of the skull at this stage showed no calcification or other abnormality.

    At 4 months the child was readmitted as she was having as many as 30 fits a day. Dur ing this t ime acute glaucoma was diagnosed and treated with I)ilocarpine 2%. The right eye alone was affected.

    321

    I t was reported that the child showed signs of a " slight " hemiparesis of the left side of the body, but no indication that the child was mental ly retarded seems to have been present. An E.E.G. (Seconal grs. 3) at this stage showed the following. The left hemisphere showed moderate voltage fast wave activity together with a good deal of irregular slow. The right hemisphere was almost fiat containing only a trace of fast activity and a little very low voltage very irregular slow. The conclusion was that the record suggested art extremely widespread disturbauce of the right hemisphere with practically no functioning cerebral tissue. The left hemisphere is relatively normal.

    At 6 months a classical right temporal lobeetomy was preferred. Pathological examination of the excised parts showed enlarged vessels in the meninges forming a haemangioma. The cerebral cortex showed little atrophy.

    Post-operatively her left sided hemiplegia became more marked, but the fits were infrequent and easily controlled with anticonvulsants. I t was noted that the child's mental develop- ment was retarded.

  • 322 IRISH JOURNAL OF MEDICAL SCIENCE

    At 3 years of age she was admi t ted to the Founta in Hospi ta l , the parents hav ing returned f rom Canada. The d is t r ibut ion of the naev i was noted to correspond to the earl ier descr ipt ion and the eran io tomy scar was present on the r ight side. C.I~.S. examinat ion showed a mi ld hemipares is with invo lvement of the left side and the left p lantar response was extensor . Occasional ro tary nys tagmus was present. I t was difficult to assess the v isual fields.

    Eyes : Megalocornea. Some pallor of the optic discs otherwise normal . There was also an a l ternat ing convergent s t rab ismus.

    Mental development : She is able to sit up unsuppor ted and bear weight on r ight leg if supported. She sees and hears, but her only use for objects is to explore them with her mouth . She does not voealise, has to be spoon fed and is double incont inent . Her assessment at the age of 3 years 1 month on P iaget S.M. reaches Stage 3. Her mani - pu lat ive abi l i ty appears to be about that of a chi ld f rom 3 to 6 months old and th is seems to be at the idiot- imbeci le borderl ine.

    X-ray of skull : Showed evidence of the old ost~oplastic flap resect ion on the r ight side of the skul l which was asymmetr i c , as is the facial skeleton. Fronta l s inuses absent.

    X-ray chest : Suggests en la rgement of the thymus gland. X-ray spine : There is s l ight dorso- lumbar scoliosis. A sp ina bif ida oceulta is

    suggested in L5.S1. region. E.E.G. : Sleep record 27/3/61. (Seeonal g rs . 3.) Act iv i ty recorded over the r ight

    ha l f of the skull was of very low voltage for most of the t ime, but on one occasion a br ief burst of 1 seconds spike and wave appeared. Act iv i ty on the left was moderate vol tage 2-4 c. per second waves mixed with low voltage faster waves in the fronto- tempora l regions. There was no evidence of focal lesion on the left. Th is E.E.G. ~esembles one taken jus t post -operat ive ly and th is indicates that there has been l ittle deter iorat ion since that t ime.

    Epi lepsy is now well control led with Epanut in grs. ~ b.d. and Phenobarb i tone gr. 1 b.d. Pat ient has had 5 fits most ly in successions of two or three last ing 10-15 minutes dur ing last 3 months .

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

    menCal retardation 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 gyri 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 fair 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 patient 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 thank Dr. B. K i rman for h is permiss ion to publ ish th is case.

    References Alexander, G. L. and Norman, R. N. (1960). Sturge-Weber syndrome.

    ~ons. Cox and Trumble (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.

    John Wr ight &