Sturge Weber Syndrome: Abnormalities in the Brain, Skin and Eyes

from Birth - A Case Report

Vina Amalia

, Patricia Maria

Department of Physical Medicine and Rehabilitation, Dr Soetomo Hospital ,

Airlangga University, Surabaya, Indonesia

Keywords: SWS, Sturge Weber Syndrome, Port-wine Stain, Glaucoma, Dermal Angioma

Abstract: A 23-year-old woman was referred from neurologic outpatient clinic with Hemiparesis Dextra (atrophy) e.c

Sturge Weber Syndrome. She complained weakness of right extremities since she was a child (4 month-old)

after she experienced a seizure. She felt easily tired after walking 100 meter, especially on the right leg.

There was numbness on right face and extremity. She felt pain on right eye, and routinely controlled to

Ophthalmology department. There was red skin on the left face. Physical examination revealed numbness,

weakness, atrophy, increased physiological reflex and spasticity on right extremities. There was also

numbness on her right face. Redness on the left face (port wine stain) and eye (glaucoma and buftalmos),

pain on left eye and blurred vision. There was parese on left facial, vestibulocochlear, glossopharynx and

hipoglossus nerve. MRI Brain discovers Sturge Weber Syndrome. The rehabilitation program consists of

ROM exercise, strengthening exercise, sensory resensitisation, hand function exercise, breathing exercise,

balance exercise and gait training.

1 INTRODUCTION

Sturge-Weber Syndrome is a sporadic, congenital

neurocutaneous disorder, characterized by

intracranial leptomeningeal vascular malformations

associated with a facial port wine stain (nevus

flaemmus) (Chhabria et al, 2017). Sturge–Weber

syndrome (SWS) or encephalotrigeminal

angiomatosis is a congenital, non-hereditary,

condition of unknown etiology. The disease shows

facial port-wine stain, ocular abnormalities

(glaucoma and choroidal hemangioma), and

leptomeningeal angioma. It belongs to a group of the

disorder known as the phacomatoses (“mother-spot”

diseases). SWS was first described by Schirmer in

1860 and later more specifically by Sturge in 1879.

He associated dermatological and ophthalmic

changes of the disease to neurologic symptoms.

Weber, in 1929, stated the radiologic alterations seen

in patients of SWS. (Kulkarni, 2015).

It is rare disorder occurring with no racial

predilection equally affecting males and females the

leptomeninges epilepsy, Port-wine stain, ocular

involvement, dermal angiomas, mental retardation,

hemiplegia, and abnormalities in skull radiographs

(Kulkarni, 2015).

The syndrome occurs almost always sporadically

and have no definite hereditary influence. Patient

with unilateral facial port wine stains of upper eye

lid increases the risk of glaucoma and regularly had

seizures and hemiparesis of the contralateral side

and that is the result of an intracranial hemangioma.

Sturge weber syndrome appear as a congenital lesion

usually benign tumors of blood vessels and have no

chance of malignant transformation (Moly et al,

2016).

2 CASE PRESENTATION

A 24 years old woman, Javanese from Lamongan

city, East Java. She hasn’t married yet with low

economic stage and doesn’t work. She was referred

from neurologic outpatient clinic with weakness of

right extremities (atrophy) because of Sturge Weber

Syndrome. She complained weakness of right

extremities since she was a child (4 month-old) after

she experienced a seizure (figure 1C). She felt easily

tired after walking 100 meter, especially on the right

leg. There was numbness on right face and

extremity. She felt pain on right eye, and routinely

controlled to Ophthalmology department. There was

Amalia, V. and Maria, P.

Sturge Weber Syndrome: Abnormalities in the Brain, Skin and Eyes from Birth - A Case Report.

DOI: 10.5220/0009087701810185

In Proceedings of the 11th National Congress and the 18th Annual Scientiﬁc Meeting of Indonesian Physical Medicine and Rehabilitation Association (KONAS XI and PIT XVIII PERDOSRI

2019), pages 181-185

ISBN: 978-989-758-409-1

181

red skin on the left face. There was no abnormality

of prenatal and natal history. Post natal history, there

was red skin on left face, asymmetric face and left

eye is more prominent (figure 1A&B). Her

development was similar to another child. She

experienced seizure routinely since 1 month ago,

twice a day. She often felt pain on her left head in

the last 3 years ago. In 2002, she underwent

glaucoma surgery.

On examination, we found numbness, weakness,

and atrophy of right extremities with Full range of

movement (ROM) and the manual muscle test

(MMT) of right wrist flexor was 1, fingers extensor

was 2, thumb flexor and extensor were 1. The other

still functional. There was increased physiological

reflex and spasticity on right extremities with

Modified Ashworth Scale (MAS) were 1+ on elbow

flexor and extensor, MAS 1 on wrist flexor and

extensor, MAS 2 on knee extensor. There was also

numbness on her right face. Redness on the left face

(port wine stain) and eye (glaucoma and bultalmos),

pain on right eye and blurred vision. There was

parese of left facial, vestibulocochlear,

glossopharynx and hipoglossus nerve. She can’t do

tandem walking. Her dynamic standing balance also

Figure (1A): Port-wine stain, glaucoma and buftalmos.

Figure (2A, B, C) : MRI brain : Sturge Weber

Syndrome

Figure (1C) : Atrophy right arm and leg

Figure (1B): Port-wine stain, orbicularis oris weakness

KONAS XI and PIT XVIII PERDOSRI 2019 - The 11th National Congress and The 18th Annual Scientiﬁc Meeting of Indonesian Physical

Medicine and Rehabilitation Association

182

was poor. Hand function like spherical, cylindrical,

lateral tip and pinch were non functional. Count test

was 23 and chest expansion was still good. MRI

brain with Sturge Weber Syndrome (figure 2A, B,

C).

We give rehabilitation program that consist of

ROM exercise, strengthening exercise, sensory

resensitisation, hand function exercise (especially

for activity daily living), breathing exercise, balance

exercise and gait training and posture correction.

We suggest this intervention two times per week

(in Lamongan hospital) and evaluated in Soetomo

Hospital every month. We educated the patient to do

exercise at home every day.

In the first month of rehabilitation program, our

main goal was to improve the posture, maintenance

the ROM, improve the gait dan hand function. Due

to the socioeconomic condition and her house far

from hospital, she was given a home-based exercise

program and therapy to the hospital in every week.

The program would be evaluated every 1 month.

Two months later, the patient was evaluated in

Hospital, there was no significant increasing the

MMT, but the patient felt more comfort in walking.

For balance test, we tried to give one leg stand, and

she can do this just on the left leg. The right leg still

weak to support whole her body. We also evaluated

hand function, but there was no significant increase.

She said that she did the exercise program was not

optimal because she still focused on eye treatment.

The right eye very painful and she routinely

control to ophthalmology department.

3 DISCUSSION

Sturge-Weber syndrome (SWS) is a congenital,

sporadically occurring, neurocutaneous syndrome

that presents classically with port-wine stain,

leptomeningeal angiomas, and glaucoma. The

systemic implications of SWS are vast and involve

not only ophthalmic manifestations but also

dermatologic, neurologic, and oral manifestations.

Neuroimaging, in particular, plays an important role

in the diagnosis and management of this disease

(Maslin, 2014). An estimated frequency of 1 per

50,000 live births have SWS, although experts

believe many more people have the disorder but

have not yet been identified. The hallmark

intracranial vascular anomaly is leptomeningeal

angiomatosis, most often involving the occipital and

posterior parietal lobes, but it can affect other

cortical regions and both cerebral hemispheres. An

ipsilateral facial cutaneous vascular malformation

usually affects the upper face in a distribution

consistent with the ophthalmic division

of the

trigeminal nerve. Other clinical findings associated

with SWS are seizures, glaucoma, headache,

Figure 3: Course of the disease.

Sturge Weber Syndrome: Abnormalities in the Brain, Skin and Eyes from Birth - A Case Report

183

transient stroke like neurological deficits, and

behavioral problems. Hemiparesis, hemiatrophy, and

hemianopia may occur contralateral to the cortical

abnormality.

Children with SWS suffer from a variety of

neurologic abnormalities, including epilepsy, mental

retardation, and attention-deficit hyperactivity

disorder, migraine, and stroke like episodes. Seventy

five to 90% of children with SWS have epilepsy.

Focal seizures are initially observed in most children

who have SWS. Fever and infection often precipitate

seizure onset. If noncontrasted computed

tomography obtained in the emergency room setting

after seizure activity is reported as normal or reveals

focal calcification ipsilateral to a cutaneous

angioma, more complete cerebral imaging is

warranted. Most seizures are focal, because the

lesion responsible for the epilepsy in SWS is focal.

Seizures are likely caused by hypoxia and

microcirculatory stasis. Children with radiographic

findings of intracranial angiomatosis usually develop

seizures by the age of 3 years. Approximately half

these children have frank mental retardation,

whereas others display learning disabilities, attention

disorders, or behavioral disturbances.

SWS classically presents with a unilateral

cutaneous nevus PWS or red wine stains on the face.

The cutaneous presentation occurs due to early

embryonic vascular malformation. SWS may also

present with angiomas in the leptomeninges

resulting in epilepsy and hemiparesis and/or

angiomas in the eye causing glaucoma. The most

frequent oral presentation of SWS is hyperplasia of

the gingiva, affecting the maxilla, floor of the

mouth, lips, cheeks, palate and tongue of the same

side. SWS may also present with changes in the

histology and morphology of gingiva, periodontium,

and pulp. (Neerupakam, 2017)

It’s typical manifestations include, cutaneous-

port wine stain on the face, ocular-glaucoma,

choroidal hemangioma and neural features-

leptomeningeal haemangioma, seizures. Oral

involvement in SWS presents as a gingival

haemangiomatous lesion limited to the maxilla and

mandible of the same side. (Neerupakam, 2017)

SWS can be classified into three different types:

 Type 1 (most common type) is characterized

by port-wine stain, cerebral malformation

(leptomeningeal angiomas), and the possibility

of glaucoma or choroidal lesions. Seizures may

occur during the first year of life.

Developmental disabilities may be seen during

the first year.

 Type 2 is characterized by port-wine stain and

possibly glaucoma without cerebral

malformation (leptomeningeal angiomas).

Headaches or migraines may also occur.

 Type 3 is characterized by cerebral

malformation (leptomeningeal angiomas)

exclusively. Port-wine stain is not present and

glaucoma is rare. (Hernandez, 2019)

In this case we got the patient has weakness of

right extremities, unable to use right hand for normal

activity, pain on right eye, redness on left eye

(glaucoma and buftalmos), red skin on left face

(port-wine stain), blurred vision on left eye.

Weakness on left facial nerve, vestibulocochlear

nerve, glossopharynx nerve and hipoglossus nerve.

MRI brain support to Sturge Weber Syndrome. We

give rehabilitation program to improve her quality of

life. The patient felt more comfort to walking after 2

months, and hand function is still not improving.

There was no adverse events or harm while running

this rehabilitation program.

She runs her rehabilitation program at a hospital

near her home, and every months control to Soetomo

Hospital. She didn’t do this rehabilitation program

maximally because she focused on her eye treatment

first that painful and very disturb her. Although there

was no significant increase in MMT, but she felt

more comfort in walking and not easily tired as

before.

The prognosis in SWS varies widely. Although

patients with widespread hemispheral disease or

bihemispheric disease are at greatest risk for

neurologic complications, many function virtually

normally. Clearly, a subgroup of patients with

limited central nervous system involvement as

defined by neuroimaging studies has a particularly

malignant clinical course, with intractable epilepsy,

headache, stroke like episodes, and cognitive

deterioration. There is a greater likelihood of

intellectual impairment when seizure start before the

age of 2 and are resistant to treatment. Prognosis is

worse in the minority of children who have both side

of the brain affected by the blood vessel abnormality

(NINDS, 2019).

4 CONCLUSIONS

It is important to know about the disease to know the

treatment and the obstacle for our rehabilitation

program. We give this program to the patient to help

her improve the quality of life. Although the course

of the disease will go on and cannot be cured. We

KONAS XI and PIT XVIII PERDOSRI 2019 - The 11th National Congress and The 18th Annual Scientiﬁc Meeting of Indonesian Physical

Medicine and Rehabilitation Association

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just help patient to get comfort in her daily activity

and adaptation for her condition.

REFERENCES

Chhabria B, et al, 2017. Sturge-Weber Syndrome. Journal

of Clinical and Diagnostic Research, 2017 Feb, Vol

11(2): OJ05-OJ06.

Hernandez A., 2019. Sturge Weber Syndrome

(Encephalotrigeminal Angiomatosis). Epilepsy

Foundation of America, 2019. Website:

https://www.epilepsy.com/learn/epilepsy-due-specific-

causes/neurocutaneous-syndromes/sturge-weber-

syndrome. Access on October 5th,2019.

Korf B, Bebin M., 2017. Neurocutaneous Disorder in

Children. Pediatrics in review Vol 38 No.3

Kulkarni S, et al, 2016. Sturge-Weber Syndrome: A Case

Report and Review of Literature. International Journal

of Scientific Study, Vol 3 Issue 8.

Maslin J, Dorairaj S, Ritch R., 2014. Sturge-Weber

Syndrome (Encephalotrigeminal Angiomatosis):

Recent Advances and Future Challenges. Asia Pacific

Journal of Ophtalmology Vol 3 No.6.

Moly K, Ahsan A, Islam S., 2015 Sturge Weber

Syndrome-Case Report. BSMMU Vol.8 Issue 1

Neerupakam M, et al, 2017. Sturge Weber Syndrome: A

Case Study. Journal of Clinical and Diagnostic

Research Vol.11(5): ZD12-ZD14.

NINDS, 2019. Sturge Weber Syndrome Information Page.

National Institute of Neurological Disorders and

Stroke.

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