Images in…

Sumita Manohari,1 Pawan Banyal,1 Arushi Gahlot Saini ‍ ‍,1 Sameer Vyas2
1

Pediatrics, PGIMER,
Chandigarh, Chandigarh, India
2
Radiodiagnosis, Post Graduate
Institute of Medical Education
and Research, Chandigarh,
Chandigarh, India
Correspondence to
Dr Arushi Gahlot Saini;
​doc.​arushi@g​ mail.​com
Accepted 6 October 2023

© BMJ Publishing Group
Limited 2023. No commercial
re-­use. See rights and
permissions. Published by BMJ.
To cite: Manohari S,
Banyal P, Saini AG, et al. BMJ
Case Rep 2023;16:e248742.
doi:10.1136/bcr-2022248742

DESCRIPTION

A girl in middle childhood presented with prolonged
right-­sided tonic seizures with focal status, and right
hemiparesis. She had a seizure with transient right-­
sided weakness 1 week before but had recovered
completely. Birth and perinatal period were normal.
She had one generalised seizure at 1 year of age for
which antiseizure medications were required. The
treatment details of this time were not available.
Family history was unremarkable. On examination,
she was conscious and oriented with normal speech
with right hemiplegia and right-­sided upper motor
neuron type of facial nerve palsy. Deep tendon
reflexes were absent on the right side and power at
proximal and distal joints was 1/5. There were no
neurocutaneous markers. Rest of the systemic examination was normal. An initial clinical diagnosis
of right-­
sided ischaemic stroke was considered.
CT head showed multiple cortical calcifications
in the left cerebral hemispheres (figure 1A–B).
Skull radiograph demonstrated the tram-­
track
calcification. MRI of the brain revealed pial angiomatosis and calcifications along gyri in left cerebral hemisphere with mild cerebral hemiatrophy
(figure 1C–H). EEG showed generalised delta theta
slowing and asymmetric right background activity
and voltage attenuation suggestive of diffuse (right
> left) cortical dysfunction (figure 2). A clinico-­
radiological diagnosis of Sturge-­
Weber syndrome

Figure 2 Sedated sleep EEG record obtained with
10–20 system of electrode placement shows generalised
delta theta slowing with paucity of sleep markers and
asymmetric right background activity and voltage
attenuation suggestive of diffuse (right>left) cortical
dysfunction.

type III was considered. She was continued on antiseizure medications drugs and oral aspirin (5 mg/
kg/day).
SWS is the third most common neurocutaneous disorder after neurofibromatosis and
tuberous sclerosis complex. It is a rare, congenhereditary, developmental disorder
ital, non-­
where hamartomatous vascular proliferation
occurs in the tissues of brain, face and eyes that
leads to complications related to the site and
extent of involvement. 1 It is often classified into

Figure 1 (A–B) CT head axial section showing extensive gyral and subcortical calcification at the left frontal and
parietal regions of left cerebral hemisphere. (C) Axial T2-­weighted, (D)Fluid-­attenuated inversion recovery (FLAIR), (E)
T1-­weighted, (F) susceptibility-­weighted (SWI), (G) diffusion-­weighted (b=1000 s/mm2) and (H) contrast-­enhanced
T1-­weighted MR images showing mildly prominent extra-­axial CSF spaces in left cerebral hemisphere. Cortical T2-­
hypointensity is seen in left frontal lobe (C) with marked susceptibility changes on SWI images (F). There is marked
leptomeningeal enhancement on left side (white arrows in H) with prominent choroid plexus (black arrow). Note made
of diffuse hypointensity in left cerebral white matter on T2-­weighted and FLAIR images, more marked in subcortical
white matter likely due to seizures or ischaemia.
Manohari S, et al. BMJ Case Rep 2023;16:e248742. doi:10.1136/bcr-2022-248742

1

BMJ Case Rep: first published as 10.1136/bcr-2022-248742 on 19 October 2023. Downloaded from http://casereports.bmj.com/ on April 18, 2024 by guest. Protected by copyright.

Sturge-­Weber syndrome type III: an important
stroke mimic

Images in…
Learning points
► Sturge-­Weber syndrome (SWS) is the third most common

neurocutaneous disorder after neurofibromatosis and
tuberous sclerosis complex.
► SWS type III as an important stroke mimic.
► Gadolinium-­enhanced T1-­weighted and susceptibility-­
weighted MRI are more sensitive than CT for early detection
of the leptomeningeal capillary-­venous malformation.
Contributors The following authors were responsible for drafting of the text,
sourcing and editing of clinical images, investigation results, drawing original
diagrams and algorithms, and critical revision for important intellectual content: SM,
PB, AGS, SV. The following authors gave final approval of the manuscript: SM, PB,
AGS, SV.
Funding The authors have not declared a specific grant for this research from any
funding agency in the public, commercial or not-­for-­profit sectors.
Competing interests None declared.
Patient consent for publication Consent obtained from parent(s)/guardian(s).
Provenance and peer review Not commissioned; externally peer reviewed.
Case reports provide a valuable learning resource for the scientific community and
can indicate areas of interest for future research. They should not be used in isolation
to guide treatment choices or public health policy.
ORCID iD
Arushi Gahlot Saini http://orcid.org/0000-0002-5747-8975

REFERENCES

1 Yeom S, Comi AM. Updates on sturge-­weber syndrome. Stroke 2022;53:3769–79.
2 Sánchez-­Espino LF, Ivars M, Antoñanzas J, et al. Sturge-­Weber syndrome: a review of
pathophysiology, genetics, clinical features, and current management approache. Appl
Clin Genet 2023;16:63–81.
3 Kasinathan A, Saini AG, Vyas S, et al. Angiodysplastic sturge weber syndrome. BMJ Case
Rep 2018;2018:bcr2017222869.
4 Udani V, Pujar S, Munot P, et al. Natural history and magnetic resonance imaging
follow-­up in 9 sturge-­weber syndrome patients and clinical correlation. J Child Neurol
2007;22:479–83.
5 Day AM, Hammill AM, Juhász C, et al. Hypothesis: presymptomatic treatment of sturge-­
weber syndrome with aspirin and antiepileptic drugs may delay seizure onset. Pediatr
Neurol 2019;90:8–12.

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2

Manohari S, et al. BMJ Case Rep 2023;16:e248742. doi:10.1136/bcr-2022-248742

BMJ Case Rep: first published as 10.1136/bcr-2022-248742 on 19 October 2023. Downloaded from http://casereports.bmj.com/ on April 18, 2024 by guest. Protected by copyright.

three main types: type I with skin and neurological symptoms with or without glaucoma, type II with only skin and
no neurological involvement with possible glaucoma and
type III with isolated neurological involvement without skin
abnormality and usually no glaucoma.2 Somatic mutation of
the GNAQ gene is implicated in pathogenesis, which causes
persistence of vascular plexus around the cephalic portion of
the neural tube that fails to regress during the ninth week of
gestation and in later course of life undergoes pathological
remodelling, venous stasis and chronic ischaemia.2 Proteins
and calcium ions entering cells through increased vascular
permeability in these capillaries cause crystallisation and
calcification, which help in early diagnosis on neuroimaging.
The typical skin lesions ‘port-­
w ine stain’ presents as a
birthmark in the distribution of first and second divisions
of trigeminal nerve. However, it may be absent in 13% of
cases.2 In such cases, the neurological presentation often
mimics an acute or recurrent ischaemic stroke secondary to
an arteriopathy or thromboembolic event. Missed cases may
present later with refractory epilepsy (75–90%), intellectual
impairment (50%) or hemiplegia/hemiatrophy (30%). 3 The
cortical leptomeningeal angiomas causes atrophy, neuronal
loss and astrogliosis in the underlying brain tissue resulting
in structural alterations. During a seizure in such a patient,
instead of normal response of increased blood flow, there is
rather a decrease in the blood flow to ischaemic levels, which
contributes to stroke and stroke-­like episodes. Such changes
can be measured by perfusion MRI sequences. Gadolinium-­
enhanced T1-­weighted and susceptibility-­w eighted MRI are
more sensitive than CT for early detection of the leptomeningeal capillary-­v enous malformation. Thus, it is important
to recognise SWS type III as an important stroke mimic in
the emergency room. There is increasing agreement that
low-­
dose aspirin (3–5 mg/kg/day) as an antithrombotic
therapy be started in children with SWS beginning in infancy
to reduce the frequency of strokes and stroke-­like events, as
well as seizures.1 In the absence of controlled studies, the
evidence is currently based on observational studies only.4 5