Sturge weber syndrome

VinhVinho de o de PortPort

oo

General ObjectiveGeneral

Objective

Specific Objectives

Specific Objectives

To recognize symptoms of Sturge Weber Syndrome.To discuss the management and treatment and prognosis of patients diagnosed with the Sturge Weber Syndrome.

To Study the etiology, clinical and pathological features, diagnosis and treatment of Sturge-weber syndrome

GENERAL DATA

Filipino, Born again Christian ,Marikina City

Admitted on Dec 11 for the 1st time at ARMMC

J.S., 3 months old Male

• Chief Complaint: Upward rolling of eyeballs with stiffening of extremities

History Of Present Illness

Review of Systems

Review of Systems

y

Birth History & Maternal History

Born to a 32 year old G4P4 (4004) mother

Normal spontaneous delivery, lying in Clinic ,assisted by midwife, denies maternal illness.

patient had spontaneous cry and good activity

Physical Examination (ER)

DIFFERENTIAL DIAGNOSIS

Rule in Rule Out

Klippel-Trenaunay-Weber Syndrome

Port wine Stain

Soft Tissue Hypertrophy

Solid visceral tumors Soft tissue hypertrophy

Rule in Rule out

Beckwith-Wiedemann Syndrome

Port wine stain

Prominent occiput

Macroglossia

Omphalocele

Rule in Rule out

Dyke-davidoff-masson syndrome

Seizure Facial asymmetry

contralateral hemiparesis

Upon Admission

Breast feeding with strict aspiration precautions IVF: D5IMB (maintenance) Diagnostics: CBC with platelet count Urinalysis Chest x-ray CSF Analysis Cranial CT Scan (with contrast) EEG Therapeutics: Ampicillin (200 mkd) Paracetamol drops (10mkdose) Diazepam (0.2mkdose) PRN

Phenobarbital (5mkd)O2 inhalation at 2-3 LPM PRN

CBC with APC (12/11)

CSF Analysis (12/15)

WBC 7.6

Hgb 10.4

Hct 32.7

Pl. ct. 490

Segmenters 46

Lymphocytes 49

Neutrophils 5

color colorless, clear fluid with small red precipitate

WBC 965 cells/ uL

RBC 289,500 cells / uL with segmenters of 0.03

lymphocytes 0.97

sugar 2.83mmol/l (2.2- 3.9)

protein 2,885mg mg/L;

culture no growth

1st – 2nd Hospital Day

• BP 90/50-60 mmHg• HR= 128-142bpm• RR = 28-42 cpm• Temp = 36.7 –37c • (-) seizure• Meds and IVF were

continued• Patient was

transferred to regular ward

3rd Hospital Day• BP 90/50-60 mmHg• HR= 132-148 bpm• RR = 28-42 cpm• Temp = 36.7 - 37C• (+) seizure one

episode= afebrile• IVF was consumed and

was shifted to heplock• IV meds were

continued

4th-7th Hospital Day

• BP 90/50-60 mmHg• HR= 128-142bpm• RR = 28-42 cpm• Temp = 36.7 –37c • (-) seizure• Meds and IVF were continued.• Cranial CT Scan with contrast was done.• Referral to ophthalmology service was done.

Cranial CT Scan with Contrast (12/19)

8th Hospital Day

Diagnosis: STURGE-WEBER SYNDROME

•Patient was referred to Ophthalmology Service for evaluation of probability of having glaucoma

OPHTHA NOTES

Patient is recommended to be seen by a Glaucoma Specialist in other institution for further evaluation and management.

Patient may start with Timolol maleate Eye drops, 2 drops OU BID

Patient is for possible Goniotomy

•IOP - OD soft

OS hard

Assessment: Congenital Glaucoma secondary to Sturge-Weber Syndrome

9th Hospital Day

DISCHARGED:

Home meds

1. Timolol maleate eye drops BID

2. Phenobarbital 13mg pptab, 1 tab BID

DISCUSSION.

Etiology

Masanori Takeoka, MD, et al (Pediatric Sturge-Weber Syndrome Medication) January 5, 2010Nelson text book of Pediatrics 19th edition.

Pathophysiology

residual vascular tissue

angiomata

neurological dysfunction

neurological deterioration with ocular manifestation

Sujansky and Conradi, American Journal of Med 57:35-45 (1995.)

Diagnosis

Tram track appearance

Classification

Treatment

Sturge weber syndrome, som.unm.edu/coc/docs/Sturge.pdf cited July3,

Prognosis

Sturge weber syndrome, som.unm.edu/coc/docs/Sturge.pdf cited July3,

Summary

• The patient is classified as type I.

• Seizures were controlled with diazepam and Phenobarbital.

• CNS imaging and Ophthalmology consultation confirms SWS.

• Advised for close follow up in pediatrics OPD and refer to Glaucoma specialist for possible Goniotomy.