Sturge weber syndrome
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This document summarizes the case of a 3-month-old male patient admitted to the hospital with symptoms of upward rolling of the eyeballs and stiffening of the extremities. Physical examination revealed a port wine stain covering the left side of the face and left eye consistent with Sturge-Weber syndrome. Testing including CT scan and CSF analysis confirmed the diagnosis. The patient was treated with anticonvulsants and referred to ophthalmology for further management and treatment of potential glaucoma. He was discharged with medications and follow up appointments.
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Sturge weber syndrome
- 2. General Objective General 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
- 3. GENERAL DATA Filipino, Born again Christian ,Marikina City Admitted on Dec 11 for the 1st time at ARMMC J.S., 3 months old Male
- 4. • Chief Complaint: Upward rolling of eyeballs with stiffening of extremities
- 5. History Of Present Illness
- 8. yBirth 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
- 14. DIFFERENTIAL DIAGNOSIS Rule in Rule Out Klippel-Trenaunay-Weber Syndrome Port wine Stain Soft Tissue Hypertrophy Solid visceral tumors Soft tissue hypertrophy
- 15. Rule in Rule out Beckwith-Wiedemann Syndrome Port wine stain Prominent occiput Macroglossia Omphalocele
- 16. Rule in Rule out Dyke-davidoff-masson syndrome Seizure Facial asymmetry contralateral hemiparesis
- 17. 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
- 19. 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
- 21. 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
- 22. 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.
- 23. Cranial CT Scan with Contrast (12/19)
- 24. 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
- 26. DISCUSSION.
- 28. Etiology
- 29. Masanori Takeoka, MD, et al (Pediatric Sturge-Weber Syndrome Medication) January 5, 2010 Nelson text book of Pediatrics 19th edition.
- 30. Pathophysiology residual vascular tissue angiomata neurological dysfunction neurological deterioration with ocular manifestation
- 31. Sujansky and Conradi, American Journal of Med 57:35-45 (1995.)
- 33. Classification
- 34. Treatment Sturge weber syndrome, som.unm.edu/coc/docs/Sturge.pdf cited July3,
- 35. Prognosis Sturge weber syndrome, som.unm.edu/coc/docs/Sturge.pdf cited July3,
- 36. 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.
Editor's Notes
- A very good afternoon to everyone. Port wine (also known as Vinho do Porto is portuguese fortified wine and the term was coined from here. Port wine stain is used to define the lesion seen in my case. Whenever we see an infant brought in an emergency room with history of seizure, this pose a diagnostic dilemma because of myriad of condition that may cause it. A detailed history and careful physical and neurological examination may uncover the cause of seizure disorder. Hence presenting the case with followings objectives :
- The general objective is to study the etiology, clinical and pathological features, diagnosis and treatment of Sturge-weber syndrome while the specific objectives are to recognize the clinical symptoms of SWS, to discuss its management and treatment and to explain the prognosis of patients diagnosed with the syndrome.
- This is the case of JXS, A 3-months old male, Filipino, born again Christian, from Marikina city, admitted for the1st time.,
- due to upward rolling of the eyeballs with tonic clonic movement of left extremities. PARTIAL SEIZURES , Simple partial, Complex partial , Partial seizures with secondary generalization . GENERALIZED SEIZURES Absences, Generalized tonic-clonic
- Patient was apparently well until an hour hours prior to admission when the patient developed intermittent undocumented fever followed by upward rolling of the eyeballs and tonic clonic movements of the left extremities, lasting for about 8 to 10 minutes. Patient was rushed to our Center and subsequently admitted.
- Review of system was unremarkable.
- Birth history was unremarkable except a reddish lesion was noted on the left side of the face extending to the right side and similar lesion was noted on the right thigh anD right leg.
- Feeding, Developmental history were unremarkble but had only bcg and hepa1 vaccine at birth..
- Past medical history and personal social history were unremarkable but Maternal grandmother had PTB but was treated.
- Physical examination on admission showed a fully awake baby with fair activity, with good skin turgor and moist lips and normal vital signs. What was noted was the Very prominent reddish, discoloration of skin with irregular borders on the upper 2/3 of the left face extending upper 1/3 of right face
- The chest, heart and abdominal findings were essentially normal. On the lower extremities, there was reddish discoloration of skin of right antero lateral thigh down to leg. No edema and cyanosis were noted on the nailbeds. On neurological exam there was presence of Babinski sign; cranial nerves, motor, sensory, and reflexes showed no deficit.
- The admitting diagnosis was CNS INFECTION and Sturge Weber Syndrome was highly considered due to the prominent lesion on the face and extremities (port-wine stain).
- The differential diagnosis are; klippel trenaunay weber syndrome. Triad of this syndrome is port wine stain, which was present in our patient while soft tissue hypertrophy as we see in this picture and solid visceral tumors are absent in our patient, hence it was ruled out. Klippel-Trenaunay-Weber syndrome (KTWS) s a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb.generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is the most common site followed by the arms, the trunk, and rarely the head and the neck. One report describes only upper limb involvement.[9] Most patients demonstrate all 3 signs of the clinical syndrome: port-wine stain, varicose veins, and bony and soft tissue hypertrophies.
- While we consider beckwith-wideemann syndrome due to presence of port wine stain in our patient but as we seen in the picture there is macroglosia which was absent on our patient. is an overgrowth disorder usually (but not always) present at birth characterized by an increased risk of childhood cancer and certain congenital features. Five common featuresmacroglossia, macrosomia (birth weight and length greater than the 90th percentile), midline abdominal wall defects (omphalocele/exomphalos, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth).[1]
- As we consider dyke davidoff masson syndrome, as seizure was present while facial asymmetry and contralateral hemiparesis was absent in our patient. Dyke-Davidoff-Masson syndrome (DDMS) refers to atrophy or hypoplasia of one cerebral hemisphere (hemiatrophy), which is usually due to an insult to the developing brain in fetal or early childhood period. More commonly they present with recurrent seizures, facial asymmetry, contralateral hemiplegia, mental retardation or learning disability, and speech and language disorders. The typical radiological features are cerebral hemiatrophy with ipsilateral compensatory hypertrophy of the skull and sinuses.
- Upon admission to the ward, the GCS was 15 (E4V5M6), with stable vital signs, patient was placed on maintenance fluid, and the following diagnostic tests were done . IV meds started with Ampicillin , paracetamol drops for fever, Phenobarbital and diazepam for seizure were started.
- 20 minutes after admission, Patient had 3 subsequent seizure episodes lasting for 3-5 minutes per episode, hence patient after reload of phenobarbital was transferred to Pediatric ICU
- the CBC revealed normal and CSF shows bacterial meningitis but on culture no growth was seen. Hgt was 100,,the ratio od
- The chest x-ray was normal.
- During the PICU stay, Patient had no recurrence of seizure episodes with stable vital signs hence subsequently transferred to pedia ward. But on the 3rd hospital day, patient had one episode of afebrile seizure, tonic clonic lasting for 2-3 minutes.
- The rest of hospital stay were unremarkable.
- CT scan with contrast revealed an impression of a probable congenital neurocutaneous syndrome such as sturge - weber syndrome .
- On 8th hosp day Patient was referred to ophthalmology service for evaluation of probable glaucoma. The assessment from ophthalmology was congenital glaucoma secondary to Sturge-weber syndrome given with Timolol Maleate. The following day patient was discharge.
- Based on history, physical examination , cranial CT scan and ophthalmology consult the final diagnosis is sturge weber syndrome.
- Sturge weber syndrome is neurocutaneous disorder. and its congenital but not inherited disese.The skin lesions “port-wine stain” is characteristic of SWS as seen in our patient, However, not all children with “port-wine” facial nevus have SWS. While investigating the other possible causes of seizures with undocumented fever of this patient, It is imperative to order neuroimaging studies to be able to make an accurate diagnosis of SWS since the seizures in Sturge weber syndrome may become refractory to anticonvulsants. An early accurate diagnosis of SWS would result in its optimal management .
- SWS is a sporadic condition of mesodermal phakomatosis characterized by a port wine vascular nevus on the upper part of the face and neurocutaneous disorder with angiomas involving the leptomeninges and skin of the face. its rare disorders occurs in 1 is to 50,000 to 1is to 60.000births.
- The main etiology is unknown. However, somatic activating mutation occurring in the GNAQ gene is believed to cause the disease. According to sturge-weber foundation, July 30, 2009 stated that probably malfunction of the development of the blood vessels over part of the brain occurred during pregnancy leads to this syndrome
- According to the nelson text book of pediatrics the incidence is 1 per 50,000.,no regional difference were noted with no variation in age and sex.
- The pathophysiology starts with residual embryonal blood vessels and their secondary effects on surrounding brain tissue leads to failure of this normal regression resulting in residual vascular tissue, which form the angiomata of the leptomeninges, face, and ipsilateral eye. Neurologic dysfunction results from secondary effects on surrounding brain tissue presents with hypoxia, ischemia, venous occlusion, thrombosis, and infarction. Disease progression and neurologic deterioration continue which increase Intra occular pressure and ocular manifestation occur.
- The clinical manifestations are port wine stain which is present in 98 % of the cases,seizures usually in 83 % of the cases while learning disabilities are noted on 60- 70 % of cases. while glaucoma in 60 % of the cases and paralysis or weakness is noted on 30 % of the cases
- The diagnosis is made on the basis of facial port wine stain, skull x-ray which shows TRAM TRACK appearance and CT scan that shows intracranial calcifications., ophthalmic evaluation includes glaucoma screening.
- The Roach Scale is used for classification, and our patient falls in type 1 as both facial and leptomengial angiomas and have glaucoma.
- Management of patients with Sturge-weber syndrome is focused on treating associated neurologic and ocular abnormalities. No preventive measures are known. Port wine stain may be camouflaged with make up or treated with laser surgery or cryotherapy. Anticonvulsant medication, one or a combination, may be prescribed. A much less commonly used treatment method involves surgical removal of a large portion of the brain (hemispherectomy.)
- Prognosis depends on the extent to which the brain is affected. This seems closely linked with the severity of the seizures. If the abnormality is present on both sides of the brain the outcome is usually poor because the seizures are more severe and the learning difficulties are greater.
- Our patient 3 months old with final diagnosis of SWS probably classified as type I, Seizures were controlled with diazepam and Phenobarbital, Both CNS imaging and Ophthalmology consultation confirms SWS, patient was sent home on Phenobarbital, Timolol Maleate and advised for close follow up in pediatrics OPD and refer to Glaucoma specialist for possible Goniotomy.