Acta Neurochir (Wien) (1991) 110:87-89 : A c t a . . N uroch rurglca �9 Springer-Verlag 1991 Printed in Austria

Sturge-Weber-Dimitri Disease? In Association with an AsUocytoma

A. Mahmood 1, M. Dujovny 1, J. L. Chason 1' 2, and L. J. Zamorano 1

Henry Ford Neurosurgical Institute, t Department of Neurological Surgery, 2 Department of Pathology, Henry Ford Hospital Detroit, Michigan, U.S.A.

Summary

A patient with parieto-occipital cortical calcification character- istic of Sturge-Weber-Dimitri disease (SWDD) is of interest in that she lacked the facial portwine lesion and almost all other features of the disease. She subsequently developed an astrocytoma in the underlying white matter. Although the absence of the facial lesion in SWDD has previously been described, there has been no report of a glioma developing in such a patient. The association of SWDD and astrocytoma in this case most likely has been fortuitous.

Keywords: Astrocytoma; oligo-astrocytoma; facial nevus; Sturge- Weber-Dimitri disease; cortical calcifications.

Introduction

Stu rge -Weber -Dimi t r i disease ( S W D D ) belongs to

a g roup o f neu rocu taneous d isorders k n o w n as the

phakoma tose s . The classical componen t s o f S W D D

include (a) a uni la te ra l po r t wine stain usual ly affecting

the skin o f the upper par t o f the face, ispi la teral , (b)

l ep tomeningea l ang iomatos i s , (c) convuls ions con t ra -

la tera l to the side o f the cu taneous and l ep tomeningea l

lesions, (d) rad io log ica l ly evident uni la te ra l t r am- t r ack

cor t ical ca lc i f ica t ion appea r ing after infancy, usual ly

in the pa r ie to -occ ip i t a l cor tex h o m o l a t e r a l to the skin

lesion, (e) var iable menta l subnormal i ty , (f) hemipares is

and h o m o n y m o u s hemianops i a con t ra l a t e ra l to the

cor t ical calc i f icat ion and (g) h o m o l a t e r a l b u p h t h a l m o s

or g l aucoma in a b o u t one th i rd o f the pat ients . The

d iagnosis is of ten first cons idered because o f the facial

lesion with rad io log ic evidence o f the typical in t ra-

c rania l calcif icat ion. Bi la tera l calcif icat ions occur in

17% of pat ients . F o r m fruste pa t ien ts wi th some fea-

tures o f the d i so rde r bu t absence o f one or more o f the

clinical a n d / o r m o r p h o l o g i c cr i ter ia have been de-

scribed; e.g., the po r t wine s tain is absent in 3% of

pat ients .

The current pa t ien t has seizures and the typical cor-

t ical t r am- t r ack calcif icat ion. The la t te r is ad jacent to

an a s t r o c y t o m a which subsequent ly deve loped in the

under ly ing par ie to -occ ip i ta l white mat te r .

Case Report

S.G., a 13 year-old black female was born at term on October 16, 1975. Initially no abnormalities were recognized. There was no history of any neurocutaneous disorder in the immediate family or other relatives. Normal growth and behaviour continued until the age of 5 years when the patient began having sleeping episodes. These were followed by seizures lasting for several seconds and characterized by twitching of the lips and shoulders. Skull X-rays on 7/3/81 revealed a large area of calcification in the left posterior parietal cortex radiographically characteristic of SWDD (Fig. 1 A, B). An EEG revealed a grade 3 dysrhythmia in the same area. A CAT scan also disclosed the characteristic cortical mineralization. The patient was treated with valproic acid (250 rag/bid) and phen-

Fig. 1 A. Skull X-ray (AP view) showing Sturge-Webcr type calci- fications in parietal region, taken on 7/3/81

88 A. Mahmood etal.: Sturge-Weber-Dimitri Disease? In Association with an Astrocytoma

Fig. 1 B. Skull X-ray (Lat view) showing the same calcification

Fig. 2 B. Parietal cortex. Calcified islands with surrounding mild astrocytosis. HE x 75

Fig. 2A. Parietal cortex. Separate and confluent calcific islands in cortex of two adjacent gyri. HE x 23.5

ytoin sodium (200mg/day). Despite this a grand mal seizure oc- curred. When valproic acid was replaced with carbamazepine (200 mg/day), no further seizures occurred during the next 4 years. Neurologic examinations during this period revealed posturing of the right upper limb in the form of flexion and pronation at the elbow with abduction and extension of the fingers when she hopped on one foot or ran. There was right hemi-hyperrefiexia. There were no motor or sensory deficits and the fundi were normal. There was no evidence of mental retardation.

On 9/5/85 at the age of 8 1/2 years she was reported as having increasing left parietal headaches, lethargy, drowsiness and occa- sional vomiting. A CAT scan on 9/6/85 revealed a calcified, partly cystic mass deep in the left parieto-occipital region beneath the area of cortical calcification. Angiography on 9/9/85 disclosed neovas- cularity of the deep lesion that was considered to be consistent with that of a glioma. Left parietal eraniotomy on 9/13/85 resulted in partial excision of a grade 2 astrocytoma; a small focus of oligo- dendroglioma and a few areas of extra tumour cortical calcification were also noted. The overlying cortex, free of the neoplasm, was calcified in a pattern that resembled that of Sturge-Weber-Dimitri disease (Fig. 2 A, B), as was seen in the earlier radiologic studies. Postoperative radiation (5500 rads) was given to the area of residual tumour. Moderate ventricular dilatation and a deep, calcified lesion were seen on postoperative CT scans. The neurological examination at the time of discharge was within normal limits.

A. Mahmood e t aI.: Sturge-Weber-Dimitri Disease? In Association with an Astrocytoma 89

Fig. 3. Grade 2 astrocytoma in deep white matter of parieto-occipital lobe. HE x 470

out mass effect. A t opera t ion , the over lying calcif ied

cor tex a p p e a r e d to be separa te f rom and free of the

neoplasm. The gross and microscop ic appea rances o f

the cor t ica l calcif icat ion were consis tent with tha t o f

S W D D (Fig. 2 A, B).

The coexistence o f S W D D with the la ter develop-

ment o f an in t rac ran ia l neop la sm has been r epor t ed

only in assoc ia t ion with a men ing ioma 7. W e were un-

able to f ind any r epor t o f an a s t r o c y t o m a associa ted

with S tu rge -Weber -Dimi t r i disease. The a s t r o c y t o m a

in this pa t i en t may represent a for tu i tous assoc ia t ion

in a pa t i en t wi th S W D D . Qui te unl ikely this m a y be

a case o f unique cor t ica l calc i f icat ion in a pa t i en t with

an under ly ing o l igo -as t rocy toma , cl inically i nappa ren t

for 4 years.

The patient remained asymptomatic until 3/7/88 when she was readmitted because of severe headaches, nausea and vomiting that had begun 4 days earlier. The CAT scan revealed moderate gener- alized hycrocephalus; this was relieved by the placement of a VP shunt. She then remained relatively well for one and a half years. However she was admitted once again on 11/20/89 because of right upper extremity weakness and drowsiness. A CAT scan disclosed recurrence of the left parieto-occipital neoplasm; it was then partly removed stereotactically using the ZD Neurosurgical Localizing Unit (F. L. Fisher, Freiburg, West Germany). The neoplasm was now more anaplastic (Fig. 3). Postoperatively the patient recovered quickly. Her neurologic examination as of January 1990 revealed only a mild right upper extremity weakness.

Discussion

This pa t i en t is unique because only two o f the usual

componen t s o f S W D D are present: (1) cor t ica l t ram-

t r ack calc i f icat ion in the pa r ie to -oec ip i t a l a rea and (2)

seizures. A compl ica t ing fac tor is the a p p a r e n t late

deve lopmen t o f an a s t r o c y t o m a in the under ly ing white

mat ter . A typ ica l cases o f S W D D wi thou t facial nevus, etc., have been descr ibed 2'4' 7, 8,10. The pa t i en t presented

with seizures at age 5 and had x- ray studies tha t re-

vealed the character is t ic t r a m - t r a c k calcif icat ions in the

pos te r io r pa r ie ta l cortex. Similar calc i f icat ions have

been descr ibed in pat ients with encephal i t is 12, puru len t

meningi t is 1, ossifying m e n i n g o e n c e p h a l o p a t h y 11, leu-

kemia 3, and g l ioma 5. Al l a p p e a r e d to be cl inically ex-

c luded at the onset o f the pa t i en t ' s symptoms . Only

four years la ter a C A T scan disclosed an under ly ing

large, pa r t ly calcified, i n t r a p a r e n c h y m a l t u m o u r with-

References

1. Adeloye A, Bohrer S (1971) Intraeranial tram line calcification in purulent meningitis. W African Med J 20:195-196

2. Ambrosetto P, Ambrosetto G, Michetucci (1983) Sturge-Weber- Syndrome without port wine facial nevus. Child's Brain 10: 387-392

3. Borns P, Rancier L (1974) Cerebral caicification in childhood leukemia mimicking Sturge-Weber Syndrome. Am J Roentg 122: 52-55

4. Crosley C, Binet E (1978) Sturge-Weber-Syndrome, presentation as a focal seizure disorder without nevus flammeus. Clin Pe- diatrics 17:606-609

5. Di Chiro G, Lindgren E (1951) Radiographic findings in 14 cases of Sturge-Weber-Syndrome. Acta Radiol 35:387-399

6. Feingold M (1982) Sturge-Weber-Syndrome. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vot 43. North Holland Publ Co, Amsterdam, pp 47-49

7. Golalp HZ, Ozkal E, Erdogan A (1981) A giant meningioma of the fourth ventricle associated with Sturge Weber Disease. Acta Neurochir (Wien) 57:115-120

8. Lund M (1949) On epilepsy in Sturge Weber's Disease. Acta Psychiatr Neurol 24:569-586

9. Norman RM (1963) Observations on Sturge Weber Disease. In: Michaux L, Fields M (eds) Les phacomatoses cerebreles. S.P.E.I, Paris, pp 471-481

10. Taly AB, Nagaraja D, Das S (1987) Sturge Weber Dimitri Dis- ease without facial nevus. Neurology 37:1063-1064

11. Wackenheim A (1973) Meningoencephalopathie ossifiante. J Belge Radiol 56:373-375

12. Williams JP (1972) Gyriform calcification following encephalitis. Neuroradiology 4:57-59

Correspondence and Reprints: Dr. Manuel Dujovny, Henry Ford Neurosurgical Institute, 2799 West Grand Boulevard, Detroit, MI 48202, U.S.A.