Sturge-Weber syndrome (SWS) is a rare disorder that occurs sporadically with a frequency of 1:50,000. It is a neurocutaneous syndrome,characterized by a facial capillary malformation (port-wine stain), abnormal blood vessels on the brain (leptomeningeal angioma), and theeyes leading to glaucoma. The patient may present with seizure, hemiparesis, stroke-like episodes, headache, and developmental delay. Here,we report a case of SWS in a 5-month-old baby presenting with the features of port-wine stain, focal seizure, and intracranial calcification

De, Dipankar

Periyakaruppan, Muthiah

Prakash, Sandeep Chandra

Singh, Kh Ibochouba

Singh, L Ranbir

Sunilbala, K

English

Atharva Scientific Publications (E-Jounals)

De et al. Sturge-Weber syndrome
Vol 2 | Issue 3 | Jul - Sep 2015 Indian J Child Health 145
Case Report
Sturge-Weber syndrome: A case report
Dipankar De, Muthiah Periyakaruppan, Sandeep Chandra Prakash, K Sunilbala, Kh Ibochouba Singh, 
L Ranbir Singh
From Department of Pediatrics, Regional Institute of Medical Sciences, Imphal, Manipur, India
Correspondence to: Dr L Ranbir Singh, Department of Pediatrics, RIMS, Imphal, India. Email: drranbirlai@yahoo.co.in
Received – 09 February 2015 Initial Review – 28 March 2015 Published Online – 23 July 2015
Abstract
Sturge-Weber syndrome (SWS) is a rare disorder that occurs sporadically with a frequency of 1:50,000. It is a neurocutaneous syndrome, 
characterized by a facial capillary malformation (port-wine stain), abnormal blood vessels on the brain (leptomeningeal angioma), and the 
eyes leading to glaucoma. The patient may present with seizure, hemiparesis, stroke-like episodes, headache, and developmental delay. Here, 
we report a case of SWS in a 5-month-old baby presenting with the features of port-wine stain, focal seizure, and intracranial calcification.
Key words: Sturge-Weber syndrome, Port-wine stain, Intracranial calcification, Leptomeningeal angioma
Sturge-Weber syndrome (SWS) is a rare disorder that occurs with an incidence of 1:50,000 [1]. The syndrome results from the anomalous development of embryonic vascular 
bed in the early stages of face and central nervous system (CNS) 
development [2]. The recent hypotheses, aberrant sympathetic 
innervations, increased vascular growth factors and defects in 
the extracellular matrix, are yet to be tested [2]. It is a sporadic 
neurocutaneous syndrome characterized by facial port-wine stain, 
eye abnormalities (glaucoma and choroidal hemangioma), and 
leptomeningeal angioma involving occipital and posterior parietal 
lobes [3]. The features of this syndrome are facial nevus, seizures, 
hemiparesis, intracranial calcification, and mental retardation [2].
Angiomas involve the leptomeninges and skin of the 
face typically in ophthalmic and maxillary distributions of 
the trigeminal nerve [4]. Developmental disorders are more 
common when angiomas are bilateral [5].
CASE REPORT
A 5-month-old infant born to non-consanguinous parents was 
brought to the emergency department with left sided focal 
seizure with facial twitching of 20 min duration associated with 
frothing from mouth and loss of consciousness. She was born 
full term following uneventful pregnancy and delivery. She 
was the third child of her parents, and her two siblings were 
apparently normal. The child was able to roll over and hold 
things given to her, and she was able to babble and laugh aloud. 
She was fully immunized for her age.
Her weight, length, and head circumference were 
6.7  kg  (within  −1  standard  deviation  [SD]  and  median), 
64 cm (median), and 42 cm (within the median and 1 SD), 
respectively. Her physical examination revealed that she was 
afebrile with a heart rate of 120/min and respiratory rate of 
30/min. The port-wine stains were present over upper right half 
of the face and eyelids (Fig. 1). The oral cavity had no port-wine 
stain and other abnormalities. Her neurological and physical 
examinations were found to be normal. Ophthalmological 
examination revealed no abnormality and intraocular pressure 
was 15 mmHg and 13 mmHg in right and left eye, respectively.
Hematological and the biochemical profile were within 
normal limits. Skull radiograph was normal. Computed 
tomography (CT) scan of the brain showed intracranial 
leptomeningeal calcification in the subcortical area of the right 
parietal lobe (Fig.  2). The patient was advised for the magnetic 
resonance (MR) angiography brain for further assessment of 
the intracranial lesion but the parents refused.
After admission to the pediatric ward, peripheral venous 
access was established. Appropriate anticonvulsants, antibiotics, 
and fluids were administered. Her seizure was controlled after 
anticonvulsant therapy with phenytoin, and there was no 
recurrence. There was no postictal neurological deficit. She was 
discharged on 5th day of admission with anticonvulsant therapy 
and was kept on regular follow-up. Feature suggestive of SWS 
in this child were port-wine stain, focal seizures opposite to the 
side of nevus and intracranial calcification.
DISCUSSION
SWS is a rare neurocutaneous disorder, which is classified 
into three types on the basis of organ involvement by Roach 
scale. In Type I, both face and leptomeningeal angiomas are 
present, and there may be glaucoma; in Type II, only facial 
De et al. Sturge-Weber syndrome
Vol 2 | Issue 3 | Jul - Sep 2015 Indian J Child Health 146
angiomas are seen, and there may be glaucoma; and Type III 
has isolated leptomeningeal angiomas and no glaucoma [2]. 
Our patient had Type I SWS as the patient had both CNS and 
facial involvement, but MR angiographic imaging would have 
given more details whether the leptomeningeal calcification is 
an angioma [2].The incidence of SWS is sporadic [4]. Both the 
sexes are equally affected, and no racial difference has been 
reported [5]. Although the precise pathogenesis is unknown, it 
is thought to be the result of the anomalous development of 
the primordial vascular bed during the early stages of cerebral 
vascularization [2].
Its diagnosis is established by port-wine stain in the face 
accompanied by other signs such as glaucoma, epilepsy, 
developmental delay, mental retardation and skull radiograph, CT, 
and MR imaging (MRI) scans [2]. Indocyanine green angiography 
can provide information that is not detected by clinical or 
fluorescence angiographic examination in patients with SWS. CT 
scan brain of our patient showed intracranial calcification in the right 
parietal region. We could not do indocyanine green angiography 
due to lack of diagnostic facilities. This may be important and 
sensitive in detecting the diffuse choroidal hemangioma associated 
with SWS [6]. The complications can be stroke-like episodes, 
glaucoma, developmental delay, and behavior abnormalities [2]. 
Hence, regular monitoring of intraocular pressure is important [2].
Treatment involves early control of seizures and prevention 
of complications [4]. Pulsed dye laser therapy for port-wine stains 
can be done for the cosmetic purpose [2]. Hemispherectomy 
and other epilepsy surgeries can be useful in refractory seizures 
and for localized epileptic focus in one hemisphere [2]. The 
parents of all the diagnosed patients must receive counseling 
regarding the potential risk of complications.
SWS must be differentiated from Klippel–Trenaunay–Weber 
syndrome, which also has hypertrophy of bone and soft tissue 
along with the clinical manifestations of SWS [7]. Beckwith–
Wiedemann syndrome and Dyke-Davidoff-Masson syndrome also 
have to be differentiated [7]. Siderosis also results in atrophy of one 
cerebral hemisphere that is similar to that seen in SWS. Imaging 
studies (MRI with contrast) that outline cerebral vasculature will 
be necessary to differentiate between these disorders [7].
CONCLUSION
SWS should be suspected in any child presenting with port-
wine stain over the face and seizure. All the suspected cases 
should be thoroughly examined and investigated to confirm the 
diagnosis.
REFERENCES
1. Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber 
syndrome: A review. Pediatr Neurol. 2004;30(5):303-10.
2. Sahin M. Neurocutaneous syndromes. In: Behrman RE, Kliegman 
RM, Stanton BF, Schor NF, Geme S, editors. Nelson Textbook of 
Pediatrics. 19th ed. Philadelphia: WB Saunders; 2011. p. 2046-53.
3. Baselga E. Sturge-Weber syndrome. Semin Cutan Med Surg. 
2004;23(2):87-98.
4. Moe P, Seay AR. Neurologic and muscular disorders. In: 
Hay WW, Hayward AR, Levin MJ, Sondheimer JM, editors. 
Current Pediatric Diagnosis and Treatment. 16th ed. Singapore: 
McGraw Hill; 2003. p. 717-92.
5. Riviello JR, Baumann R, Talavera F, Mack KJ, Benbadis SR, 
Lorenzo N. Sturge-Weber syndrome. Available from: http://
www.emedicine.com/neuro/topic356.htm. [Last accessed on 
2015 Mar 12].
6. Chen C, Yu Y, Zhen H. Sturge-Weber syndrome associated with 
early diffuse choroidal hemangiaoma: A case report. Yan Ke Xue 
Bao. 2004;20:168-70.
7. Medscape Reference: Drugs, Diseases and Procedures. Sturge-
Weber Syndrome: Differential Diagnoses. Available from: http://
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on 2015 May 15].
Funding: None; Conflict of Interest: None Stated.
How to cite this article: De D, Periyakaruppan M, Prakash SC, 
Sunilbala K, Singh KI, Singh LR. Sturge-Weber syndrome: A case 
report. Indian J Child Health. 2015;2(3):145-146.
Figure 1: Port-wine stain in right upper part of face
Figure 2: Computed tomography scan of brain showing 
leptomeningeal calcification in right parietal lobe


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