Struge weber syndrome

2. CASE SCENARIO
Dr.Asia Noureen
PGR Pediatric Medicine

3. HISTORY
Eraj, D/O M.Asif, 9 months old female child, resident of Layyah,
was admitted on 9th oct, 2020 in developmental ward through
emergency with H/O
1. Fever for 7 days
2. Right-sided focal fits for 7 days
Fever was gradual in onset, intermittent, high grade,
undocumented and was relieved by oral medication.

4. ● Fever was also associated with cough. ( no H/O ear
discharge, breathing difficulty, burning micturition).
● Fits were of multiple episodes, each episode of about 2-3
minutes, tonic-clonic, localized to right-side of the body
with uprolling of eye balls and there is no H/O urinary and
fecal incontinence.
● She is also having H/O pink-purplish spots of various
sizes on left-side of face, back, right arm and left leg.

5. ● There is no previous H/O fits, weakness, body swelling or
any other complaint.
● She went to local hospital for treatment of fits, from where
she took emergency management of fever and fits and
was referred to Children hospital for further management.
• She is the second one among two sibs. Birth history
revealed that she was delivered via SVD with
unremarkable birth events. No family history of fits,
epilepsy or stroke.

6. • She is developmentally delayed with Neck-holding 4 months
and sitting is not achieved yet.
• She is being vaccinated according to EPI schedule including
polio. No record available.
• She used to take Motherfeed and cow’s milk with weaning
started at the age of 7 months.
• They are six family members living in their own house with
only facility of electricity. Her father is the only breadwinner of
the family, he works in a cement factory with monthly income of
PKR15000/-.

7. Physical Examination:
GPE:
A female child, lying on bed with no obvious signs of distress
and edema.
Her vitals were:
❖ Pulse rate: 110/min
❖ R/R: 32/min
❖ B.P : 90/60mmHg
❖ Temp: 100F

8. ❖ Height 71cm (50th centile)
❖ Weight 7.5 kg (50th centile)
❖ H.C 45cm (50th centile)
Her throat was mildly congested with hyperemia over both
tonsils.
Systemic Examination:
CNS examination:
● GCS:15/15
● Pupils B/L reactive to light

9. ● Tone normal in all limbs
● Power 4/5 in all limbs
● Reflexes elicitable in all limbs
● Plantars B/L up going
● Sensory system intact
● Abdomen was moving with respiration, soft, non-tender,
no visceromegaly and bowel sounds were audible.
● Chest was clear with B/L equal air entry.
● CVS both heart sounds audible with no added sounds.

10. Port-wine stain involving left side of face and right arm
Dermatological findings:

11. Angiomatosis on the back

12. Investigations
CBC:
a)Hb :10.9 g/dl
b)TLC : 8.2 x10x9/L
a) polys: 62%
b)Lympho:32%
c) Platelets:188x10x9/L

13. RPM:
a) Cr: 0.4 mg/dl
b) Urea:10mg/dl
Serum electrolytes:
a)S.Na:138 mmol/l
b)S.K: 4.6 mmol/l
c)S.calcium:9.9 mg/dl
d) S.magnesium:2.3 mg/dl

14. Axial computed tomography images
showing Gyriform subtle tram track
calcification in left cerebral hemisphere
with prominence of extra-axial CSF
spaces representing left-sided cerebral
atrophy. Findings likely suggestive of
struge weber syndrome.
CT scan BRAIN:

15. MRI BRAIN:
T2 weighted MRI brain showing left-
sided cerebral atrophy(red) and calvarial
thickening(yellow)

16. MRI BRAIN
T1 weighted images showing left-sided sub-cortical
calcifications.

17. Eye Examination:
Parameters Right eye Left eye
CD ratio 0.3 -0 .35 0.45 – 0.50
IOP(mmHg) 12 18
Corneal
diameter(mm)
11 12
Ophthalmological assessment revealed
raised intraocular pressure particularly in
left eye.

18. Scleral hemangiomatosis of both eyes

19. EEG
1. Diffuse slowing of the background activity
2. no epileptogenic activity ssen

20. Developmental assessment:
● Motor 4 months of age
● Cognition 5 months of age
● Self help 4 months of age
● Socialization 5 months of age

21. Provisional diagnosis:
 Struge weber syndrome with URTI
Differential diagnoses:
 Klippel-Trénaunay-Weber's syndrome
 The Maffuci's syndrome
The Beckwith-Wiedmann's Syndrome

22. MANAGEMENT
SUPPORTIVE and SPECIFIC:
1. antipyretics for fever
2. anti-epileptics for fits
3. Antibiotics to control infection
4. fluid and electrolyte balance
5. Management of raised intraoccular pressure(glaucoma)
6. Dermatological opinion for treatment of port-wine stain
7. Physiotherapies to mitigate the motor difficulties

23. Approach to a patient of Struge Weber
Syndrome
OBJECTIVES
❖ Definition
❖ Epidemiology
❖ Classification/types
❖ Clinical presentation/manifestations
❖ Differential diagnosis
❖ Investigations/workup
❖ Treatment options

24. Struge weber syndrome(SWS)
SWS also called encephalotrigeminal angiomatosis, is a
neurocutaneous disorder with angiomas that involve the
leptomeninges (leptomeningeal angiomas [LAs]) and the
skin of the face, typically in the ophthalmic (V1) and
maxillary (V2) distributions of the trigeminal nerve. The
hallmark of SWS is a facial cutaneous venous dilation, also
referred to as a nevus flammeus or port-wine stain (PWS).

25. Prevalence:
● Sturge-Weber syndrome is found worldwide
● affects approximately 1/20-50,000 live births
● Sturge–Weber syndrome is not inherited, but rather
occurs exclusively sporadically, in both males and
females and in all races and ethnic backgrounds.

26. Etiology:
The etiology of SWS is primarily likely associated with
somatic mosaicism. An activating somatic mutation in the
GNAQ gene, seen on chromosome 9, appears to cause
alterations in regulation of the structure and function of
blood vessels, innervations of the blood vessels, and
expression of extracellular matrix and vasoactive
molecules.

27. Pathophysiology:
● SWS is caused by failure of the normal vascular plexus
regression that results in residual vascular tissue, which
forms the angiomata of the leptomeninges, face, and
ipsilateral eye.
● Neurologic dysfunction results from secondary effects on
surrounding brain tissue such as hypoxia, ischemia,
venous occlusion and infarction.

28. Types of struge weber syndrome:
● Type I presents with both facial and leptomeningeal
angiomas. (May have glaucoma)
● Type II has facial angiomas without central nervous
system leptomeningeal angiomatosis. (May have
glaucoma)
● Type III has isolated leptomeningeal angiomatosis without
a facial port-wine nevus. (usually no glaucoma).

29. Cutaneous manifestations:
● PWS since birth, affecting the ophthalmic distribution of
the trigeminal nerve, is the most prominent clinical finding
of SWS. Second and third sensory divisions of the
trigeminal nerve can also be involved, and they can be
diffuse and bilateral(14%).
● Sometimes, small angiomatous nodules may appear and
in rare instances, a “cobblestone” pattern of red-purple
nodules entirely cover the cutaneous lesion.

30. Neurological symptoms and signs:
● Seizure caused by hypoxia and ischemia is another
common manifestation of SWS. Partial seizures may
occur in 70%-90% of those with the disorder by age of 3
years, typically occur contralateral to the neurocutaneous
lesion and worsen with age.
● Infantile spasms and generalized seizure are also
observed.

31. Other neurological complications:
● Secondary to leptomeninges angioma included vascular
headache, stroke like episodes, contralateral hemiparesis,
hemiatrophy and hemianopia.
● About 50%-60% of those with SWS presented mental
retardation.
● Even in those without frank cognitive impairment,
intellectual skills are often lower than expected. a mean
intelligence quotient (IQ) of approximately 75.

32. Ocular manifestations:
● Glaucoma is the most common ocular complication of
SWS, and presented in 30%-70% of patients, causing
buphthalmos, defect of visual field and loss of sight.
● 60% of them develop glaucoma in infancy due to anterior
chamber angle anomalies and 40% in childhood or early
adulthood resulting from raised episcleral venous
pressure.

33. Other complications:
● Ocular includes vascular abnormalities of the conjunctiva,
episclera, retina, and choroid.
● Other manifestations: SWS may also show oral
manifestations. These include unilateral vascular
hyperplasia of the oral mucosa and/or gingival changes
ranging from slight vascular hyperplasia to large masses,
which may interfere with mouth closure.

34. Differential Diagnosis:
The Sturge-Weber Syndrome differential diagnosis
includes
1: Klippel-Trénaunay-Weber's syndrome also presents with
Port wine stains, soft and osseous tissues hypertrophy
and AVM.
2:the Maffuci's syndrome, which presents with vascular
malformations in the skin and mucosae (lips and palate),
dyschondroplasia, and may also lead to
chondrosarcomas.

35. ● 3:the Beckwith-Wiedmann's Syndrome: it presents with a
lesion similar to the Port wine stain, associated with
macroglossia and risk of associated visceral neoplasms.

36. Diagnostic workup:
Radiology
● CT scan brain, the modality of choice, better delineation
tram track calcification(may absent in the early stages of
the disease).
● MRI brain helps in the location and extent of
leptomeningeal angiomatosis (LAM) and parenchymal
abnormalities.

37. ● EEG shows suppression of voltage activity near the
angiomas and epileptiform discharges may rise from
ipsilateral or contralateral hemisphere.
● Histopathology examination of SWS shows vascular
malformation with capillary telangiectasia with extensive
calcification supporting the diagnosis of SWS.

38. Ophthalmological examination:
● As soon as Sturge-Weber syndrome (SWS) is first
suspected or documented, a complete ophthalmologic
evaluation is essential to rule out glaucoma, since the
infant's eye is damaged quickly by increased intraocular
pressure (IOP).
● In young patients, examination under anesthesia or deep
sedation is necessary to confirm the diagnosis of
glaucoma.

39. Careful assessment in each eye of IOP, corneal diameter,
cycloplegic refraction, axial length, and optic nerve cupping,
as well as gonioscopic examination to evaluate the internal
drainage system of the eye, also referred to as the anterior
chamber angle, is mandatory.

40. Principles of management:
Management of skin manifestations:
For the skin involvement, dye laser photocoagulation has
been helpful and can result in lightening of the port-wine
birthmark. Laser treatment is also thought to reduce the long-
term risk of soft and bony tissue hypertrophy and the
attendant functional impairments related to swallowing,
speaking, breathing, vision, and hearing.

41. Management of glaucoma:
•For glaucoma, medication is generally the first line therapy
•Initial medical therapy with a topical beta blocker, followed
sequentially with the addition of a carbonic anhydrase
inhibitor (systemic in infants and topical in older children)
and topical prostaglandin (latanoprost), is a reasonable
protocol in patients.

42. Even with the best treatment, infants with florid glaucoma
may not respond to treatment.
Surgical Procedures:
1. Trabeculotomy
2. Trabeculectomy with/without Mitomycin C
3. Transcleral cyclophotocoagulation

43. Management of seizures:
● The most common seizures type in patients with Sturge-
Weber syndrome are focal motor with or without impaired
consciousness.
● The most commonly used anticonvulsants in infants
include oxcarbazepine, leviteracitam, and phenobarbital.
● Other potential, but less commonly used chronic
anticonvulsants, include valproic acid, carbamazepine,
zonisamide and lamotrigine.

44. ● Surgical options are available for seizures refractory to
medical treatment, especially for focal seizures.
● Surgical procedures include focal cortical resection,
hemispherectomy, corpus callosotomy, and vagal nerve
stimulation (VNS).

45. In addition, physiotherapies to mitigate the motor difficulties
resulting from hemiparesis and reeducation to increase the
intellectual level are also recommended.
MONITORING: The annual monitoring as for glaucoma is
recommended for all patients and if applicable, it deserves an
aggressive treatment.

46. Prognosis:
Factors predicting a poor outcome (or indicating potential
need for surgery) in SWS include the following:
● Early seizure onset
● Extensive leptomeningeal angiomas (LA)
● Medically refractive seizures
● Relapsing or permanent motor deficits
● Evidence of progressive neurologic damage

47. ● Progressive atrophy or calcifications
● Development of hemiparesis
● Deterioration in cognitive functioning (loss of intellectual
abilities)