ssg hospital vadodara

1. THRUSDAY CASE
Dr.Nishant Sinsinwar
R2,MedicineE/F

2. Informant: Patient’s father
31 years old female, Avantibai Rathod , Hindu unmarried female,
studied till 5th class, residing at shankarpura Madhyapradesh,
belonging to the lower socioeconomic class
Chief complaints of:
Convulsions 2 days back

3. On eliciting Origin, Duration and Progress,
Pt was apparently asymptomatic 2 days back when she presented with c/o
Convulsions – single episode 2 days back
With initial tonic posturing of all four limbs f/b clonic movements of all four
limbs
a/w uprolling of eyeballs and frothing from the mouth with clenching of teeth,
tongue bite ,urinary incontinence
Followed by loss of conciousness for 10 to 15 mins followed by post ictal
drowsiness.
purple discolouration of skin on right side of face, medial side of arm and
forearm , and in right side of thorax and abdomen since birth, which blanches
on pressure

4. No h/o fever
No h/o headache
No h/o vomiting
No h/o head trauma
No h/o stroke like event
No h/o dizziness
No h/o decrease vision

5. PAST HISTORY :
• No h/o Tuberculosis, Jaundice or blood transfusion
• Patient is a known case of epilepsy since the age 3 month on irregular
treatment with
• T. Na Valproate (200mg) 1-0-1
• T. Epsolin (100mg) 2Hs
• Epilepsy was diagnosed in infancy with 1st convulsion occurring at the age
of 3 months, following which patient had multiple admissions for
convulsion . Last admission 2 months back. Since then convulsions were
well controlled with treatment
• father gives h/o on and off treatment since 1 week

6. Family history:
No h/o convulsion or intellectual disability in any maternal or paternal
family members.
Personal history:
Sleep and appetite normal
Bowel and bladder habits normal
No addictions.
Obstretic h/o – menarche at the age of 16 year with normal menstrual
cycle

7. • At the end of history,
31 years old hindu female patient, who presented with convulsion in a
known case of epilepsy with purple discolouration of skin since birth

8. O/E
Pt is conscious, not very cooperative.
Pt is fairly built and fairly nourished.
Pulse: 90/min in right radial artery, regular, with normal force, volume,
tension.
BP: 110/70 mm Hg in Rt arm.
No pallor/ clubbing/ icterus/ oedema / lymphadenopathy.

9. .
• Purple lesion over skin in right side of face in frontal region , over
nose ,eyelids,cheek , lips , with hypertrophy of soft tissues .
• skin of right upper and lower trunk and in medial side of right arm
and forearm with full wrist involvement
• s/o PORT WINE STAIN (Nevus Flammeus)

13. PORT WINE STAIN-
• Facial cutaneous venous dilatation present as congenital macular
lesions that can be progressive ,light pink color initially and then
progress to dark red or purple nodular lesion. Which has irregular
outlines that are mostly situated along v1(ophthalmic), v2(maxillary)
distribution of trigeminal nerve

14. Systemic examination:
CNS:
• Higher functions: Pt is conscious, not very cooperative.
Speech: Few words with meaning.

15. • Cranial nerves: Normal
• Fundoscopy: No papilloedema
• Motor system:
Nutrition: Normal
Tone: Normal in all 4 limbs
Power: Normal in all 4 limbs
No involuntary movements.

16. • Reflexes: All superficial and deep tendon reflexes are
normal.
• Gait: Normal
• No signs of meningeal irritation.

17. • CVS: S1, S2 normal,
No murmur
R/S: AEBE , No added sound
• P/A: Soft, Nontender
No organomegaly.

18. • Provisional diagnosis:
31 year old hindu female with c/o convulsion, in a known case
of epilepsy with Port wine stain over right side face, trunk
and hand with no FND/ cranial nerve involvement.
is a case of STURGE WEBER SYNDROME

19. STURGE WEBER SYNDROME
• Also known as encephalotrigeminal angiomatosis, is a congenital
neurocutaneous disorder with angiomas that involves leptomeninges
and Skin of face in ophthalmic and maxillary distribution of trigeminal
nerve.
• The Hallmark of SWS – facial cutaneous venous dilation also referred
as nevus flammeus or port wine stain
• SWS is an embryonal developmental anomaly resulting from errors in
mesodermal and ectodermal development.
• There is somatic mosaicism and a mutation in GNAQ gene on
chromosome number 9 at q21.2

20. SIGNS AND SYMPTOMS
• Developmental delay/mental retardation
• Learning problems
• ADHD
• Hemangioma like , superficial changes in the eyelid
• Buphthalmos
• Glaucoma
• Portwine stain

21. Physical signs of sws
• PWS
• Macrocephaly
• Occular manifestation
• Soft tissue hypertrophy
• Hemiparesis
• Visual loss

22. DIFFERENTIAL DIAGNOSIS
• DYKE DAVIDOFF MASSON SYNDROME
• KLIPPEL-TRENAUNAY-WEBER SYNDROME
• RENDU-OSLER- WEBER SYNDROME
• VON HIPPEL LINDAU SYNDROME

23. INVESTIGATION
• CBC
• HB – 12.5%
• TC – 9,300
• DC- 54/44
• PC- 3,73,000
• RBS-85mg/dl

24. • UREA -25 mg/dl
• CREAT – 0.87 mg/dl
• T.BILI – 1.0
• DIRECT - 0.4
• INDIRECT- 0.6
• NA- 140mmole/l
• K- 4.7mmol/l
• URINE RM - WNL
• C FUNDUS –S/O NO PAPILLPOEDEMA
• USG-WNL

25. • Skull xray – tram track appearance
• Ct scan – calcification , tram track appearance, cortical atrophy
• MRI – Hemi-atrophy of right cerebral hemisphere is seen with
multifocal gliotic areas and curvilinear thick blooming image p/o
calcification, predominantly in right parieto -occipito-temporal lobes
• Abnormal smooth leptomeningeal enhancement is seen along right-
parieto-occipito-temporal lobes
• s/o Dyke Davidoff Masson syndrome or Sturge Weber syndrome
• EEG- reduced background activity

27. TREATMENT
• Medical care in SWS includes anticonvulsants for seizure control,
symptomatic and prophylactic therapy for headache, Glaucoma
treatment to reduce IOP, and laser therapy for PWS
• GLAUCOMA medications-
• Beta antagonist eye drop
• CA inhibitors
• Adrenergic eye drop and miotic eye drop

28. DYE LASER PHOTOCOAGULATION
• Treatment of the cutaneous PWS with dye laser photocoagulation of
16 cycles (one cycle per month) has been helpful in reducing the
cosmetic blemish from the cutaneous vascular dilatation.

29. Surgical procedures for seizures that are
refractive to medical treatment -
• Focal cortical resection
• Hemispherectomy
• Corpus callostomy
• Vagus nerve stimulation

30. Surgical recommendations
• Hemispherectomy – appropriate only for medically refractory seizures
• Patients with intractable seizures and very localized lesion should
have a limited resection .
• Corpus callostomy is reserved for patients with intractable atonic or
tonic seizures leading to secondary injury