Parkes Weber syndrome.pptx

PWS is a rare congenital disorder of vascular system. Often confused with Klippel trenaunay syndrome as almost similar symptoms.In PWS, capillary & arterio-venous malformation, arteriovenous fistula and overgrowth of a limb can occur together.

1. Case presentation DR. YASNA KIBRIA MD, Phase B resident Department of Radiology & Imaging BSMMU

2. Mr. Lavlu , 28 years old male hailing from Nilphamari presented with the complaints of right lower limb swelling from childhood, mild pain & discomfort of the affected limb for last 2 years. The pain was described as “tightness”, which was relieved by rest & aggravated by movement. No history of trauma, personal or family history of thrombosis or coagulopathy and tobacco or substance use.

3. Physical examination All vitals-normal. Relevant findings: Large, flat Port-wine stain Right thigh: roughly double the circumference compared to left side Right calf: increased in girth Whole right lower limb: W armer & mildly tender on palpation Palpable thrill & audible bruit present No pitting oedema

4. Radiological diagnosis Parkes-Weber Syndrome

5. Differential diagnosis Klippel-Trenaunay Syndrome

6. Points Parkes-Weber Syndrome Klippel - Trenaunay Syndrome Vascular malformations Arterial, capillary , venous Capillary, venous, lymphatic Type of flow High Slow Cutaneous menifestation Pink & diffuse (Salmon color) Bluish to purplish Arterio -venous malformation & arterio -venous fistula Very significant Not present Lymphatic malformation Very rare Always present Limb affected: Upper lower 23% 77% 5% 95% Genetics RASA 1 mutation AGGF 1 mutation Limb enlargement Usually a rm or leg length discrepency Usually disproportionate, limb length discrepancy ,macrodactyly, particularly of toes are common Prognosis More problematic, particularly in those who develop heart failure or limb ischemia resulting amputation Usually favourable

7. Parkes-Weber Syndrome Klippel – Trenaunay Syndrome

8. PWS KTS

9. PWS KTS

10. PWS KTS

11. PWS KTS

12. Parkes Weber Syndrome Klippel - Trenaunay Syndrome

13. Parkes Weber Syndrome

14. Klippel - Trénaunay -Weber syndrome /  Klippel - Trénaunay -Parkes Weber syndrome - sometimes used synonymously with Parkes Weber's syndrome (PWS). However, the term Parkes Weber's syndrome is now considered as a separate condition & shouldn’t be confused with Klippel-Trénaunay syndrome   as their symptoms & treatments are vastly different. Parkes Weber syndrome  ( PWS ) is a  congenital disorder  of the  vascular system . It is named after British dermatologist  Frederick Parkes Weber , who first described the syndrome in 1907 .

15. Parkes Weber's syndrome is an extremely rare condition and its exact prevalence is unknown Most cases are sporadic , although familial cases have been reported A recent study suggests that PWS may be linked to mutations of the RASA1 gene & displays an autosomal dominant inheritance pattern Epidemiology & etiology

16. Presentation Onset: May present antenatally (on ultrasound), at birth , or may develop during childhood . Clinical features in the affected limb: A congenital, red or pink skin lesion (a 'geographical' red stain ), which is a high-flow lesion . Limb enlargement - including muscle and bone hypertrophy , with an increase in limb length and girth. One case involving a shortened limb is reported . Signs of a vascular shunt in the affected limb, e.g. warmth ; dilated veins; a thrill, bruit or pulsation. May have limb pain , due to vessel enlargement. In some cases, the skin lesions may bleed easily , e.g. on minor trauma . Distal skin changes in the limb (due to distal vascular steal), e.g . ischaemic ulcers, pigmentation and fibrosis . Lymphoedema - may be localized or diffuse. Lymphatic vesicles may be visible in the skin

17. Diagnosis Making a correct diagnosis for this genetic and rare disease is oftentimes very challenging The diagnosis can usually be made clinically , without the need for imaging. A bedside audible Doppler ultrasound can confirm vascular shunting PWS often requires a multidisciplinary care. Depending on the symptoms, patients are dependent on:  dermatologists ,  plastic surgeons ,  general surgeons ,  interventional radiologists ,  orthopedists ,  hematologists ,  neurosurgeons ,  vascular surgeons  and  cardiologists Various imaging methods can be used to assess the extent of lesions

18. RADIOLOGICAL INVESTIGATIONS

19. Complications Skin: Cosmetic problems with the appearance of the lesions. Some skin lesions may bleed easily, eg on minor trauma - patients need advice about first aid. Ischaemic ulcers distal to the lesion. Recurrent skin infections due to lymphoedema . Cardiovascular: Limb pain resulting from vessel dilatation. High-output cardiac failure  - due to the high-flow shunting lesions . One case report describes  disseminated intravascular coagulation  following a leg fracture in a patient with Parkes Weber's syndrome (PWS ). Orthopaedic : Pelvic tilt and  scoliosis  due to leg-length discrepancy. Pathological fractures  due to lytic bony lesions.

20. Management Conservative treatments: Prevention of trauma (lifestyle modification, eg care with sporting activity) - since trauma may worsen the AVFs. First aid advice for patients if they have lesions prone to bleeding - apply firm pressure and seek medical help. Elastic  hosiery  to reduce lymphoedema and vascular steal. Avoid laser treatment of the skin lesions - this can worsen the shunting through AVFs . Orthopaedic care for the limb-length discrepancy : Monitor limb growth. Treatment is conservative if possible. Stapling epiphysiodesis ( eg of the knee cartilages) may be performed to limit leg length, but the procedure may worsen the arterial venous malformation in the limb. Limb amputation may be required in some cases. Vascular treatments:   Arterial embolisation Sclerotherapy Debulking surgical resection of the lesion may be possible in some cases.

21. A 21-year-old woman with a previous history of partial saphenectomy sought our Angiology service for treatment for a venous ulcer in the distal third of her left leg. She complained of joint pain and claudication. The ulcer had appeared one year after surgery. During the physical examination we observed angiomas on her left leg and disproportion between limbs . Arterial and venous color Doppler ultrasound and magnetic resonance angiography were used to confirm the initial KTS diagnosis. Doppler ultrasound and magnetic resonance angiography both showed hypoplasia of superficial and deep veins of the left lower limb, and an arteriovenous fistula, thereby confirming the diagnosis of PWS.

22. Learning points Diagnosis of PWS is highly challenging due to lack of information regarding the topic T he syndrome requires a high index of suspicion & often multidisciplinary approach Making a confirmed diagnosis is important because- It can cause serious cardiac & vascular complications resulting significant mortality & morbidity Treatment options are also different

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