Klippel-Trenaunay syndrome in a young patient with the involvement of gastrointestinal and genitourinary tracts: an unusual and rare presentation

2021 ◽  
Vol 14 (3) ◽  
pp. e239420
Author(s):  
Oseen Hajilal Shaikh ◽  
Uday Shamrao Kumbhar ◽  
Ankit Jain ◽  
Sunitha Vellathussery Chakkalakkoombil
Keyword(s):  
Lower Limb ◽  
Varicose Veins ◽  
Venous Malformations ◽  
Rare Presentation ◽  
First Case ◽  
Rare Congenital Disorder ◽  
Left Lower Limb ◽  
Bleeding Per Rectum ◽  
The Right ◽  
Klippel Trenaunay Syndrome

Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterised by capillary and venous malformations and soft-tissue hypertrophy with or without lymphatic malformation. The involvement of the gastrointestinal tract and genitourinary tract is uncommon in KTS. We present a case of a young adult who presented to us with bleeding per rectum and varicosities of the left lower limb. The patient was evaluated and diagnosed to have KTS. The patient was managed conservatively. To best of our knowledge, this is the first case report in literature where KTS was associated with atypical varicose veins of the left lower limb with mild hypertrophy of the lower limb, localised hypertrophy of the right gluteal region with involvement of pelvis, rectum, bladder and seminal vesicle.

scholarly journals Klippel Trenaunay Syndrome: A Case Report in an Adolescent Nigerian Boy

2015 ◽  
Vol 3 (2) ◽  
pp. 322-325
Author(s):  
Anthonia Asanye Ikpeme ◽  
Usang Edet Usang ◽  
Akan Wilson Inyang ◽  
Nchiewe Ani
Keyword(s):  
Lower Limb ◽  
Financial Constraints ◽  
X Rays ◽  
Doppler Studies ◽  
First Case ◽  
Weber Syndrome ◽  
The Right ◽  
Klippel Trenaunay Syndrome ◽  
Uneventful Pregnancy ◽  
Apparently Healthy

AIM: This is to report a case of Klippel Trenauay Weber syndrome in a fifteen year old Nigerian boy. This is a rare syndrome and it is the first case to be reported in UCTH Calabar.CASE PRESENTATION: Product of a full term uneventful pregnancy, delivered to non-consanguineous apparently healthy parents. At birth was noted to gradually develop swelling on the right leg, worse at the right foot. There was crossed hemi-hypertrophy with right leg bigger than the left. As child grew symptoms worsened, parents separated and eventually he was abandoned to the streets. He presented at University of Calabar Teaching Hospital for medical care at the age of fifteen years with lymphatic obstruction, persistent foul smelling drainage, lipodermatosclerosis of right foot as well psycho-social and financial constraints. The diagnosis was made with x-rays and Doppler studies of the lower limb vessels. He is currently being managed conservatively with compression dressings on the affected limbs, Antibiotics for the infection and analgesics. De-bulking surgery is being anticipated at this time.CONCLUSION: This is a case of KTWS presenting in adolescence and due to its rarity in Nigeria, this report is to increase awareness.

scholarly journals An unusual evolution of a case of Klippel-Trenaunay syndrome

Open Medicine ◽  
2015 ◽  
Vol 10 (1) ◽  
Author(s):  
Valter Martino ◽  
Alessia Ferrarese ◽  
Borello Alessandro ◽  
Silvia Marola ◽  
Alessandra Surace ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Lower Limb ◽  
Unusual Case ◽  
Varicose Veins ◽  
Congenital Disorder ◽  
Venous Ulcers ◽  
Rare Congenital Disorder ◽  
Klippel Trenaunay Syndrome ◽  
Treatment Of Infection

Abstract Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder. KTS can be diagnosed on the basis of any 2 of 3 features: cutaneous capillary malformations, soft tissue or bony hypertrophy and varicose veins. We present an unusual case of KTS complicated by an infection of venous ulcers of the lower limb by larvae. The treatment of infection was a complete debridement; however baseline treatment of KTS is still in evaluation.

scholarly journals A neonate with Klippel–Trénaunay syndrome: a case report 

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Franck Katembo Sikakulya ◽  
Walufu Ivan Egesa ◽  
Sonye Magugu Kiyaka ◽  
Philip Anyama
Keyword(s):  
Lower Limb ◽  
Varicose Veins ◽  
Color Doppler ◽  
Color Doppler Ultrasound ◽  
Port Wine ◽  
Black African ◽  
Port Wine Stains ◽  
Left Lower Limb ◽  
Clinical Triad ◽  
Klippel Trenaunay Syndrome

Abstract Background Klippel–Trénaunay syndrome is a rare congenital capillary–lymphatic–venous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000. Case presentation We report the case of 21-day-old neonate Black African female (born in Uganda) with Klippel–Trénaunay syndrome who presented with macrodactyly and ectrodactyly on the left foot, as well as numerous port wine stains on the left thoracoabdominal region and anteroposterior left lower limb. Color Doppler ultrasound examination of the left lower limb and abdomen revealed varicose veins without signs of arteriovenous fistula. Conclusion The report presents the case of a neonate with a rare congenital vascular disorder type Klippel–Trénaunay syndrome.

scholarly journals Klippel trenaunay syndrome-an obstetric challenge

2021 ◽  
Vol 10 (5) ◽  
pp. 2081
Author(s):  
Kanmani K. ◽  
Meena M. ◽  
Narmadha D. ◽  
Geethu V. A.
Keyword(s):  
Lower Limb ◽  
Multidisciplinary Approach ◽  
Emergency Caesarean Section ◽  
Laboratory Studies ◽  
Congenital Disease ◽  
Vascular Surgeon ◽  
Pregnancy And Postpartum ◽  
Left Lower Limb ◽  
Bleeding Per Rectum ◽  
Klippel Trenaunay Syndrome

Klippel Trenaunay Syndrome is a rare congenital disease characterized by triad of extensive cutaneous haemangiomas (most common), venous varicosities and hypertrophy affecting a leg and/or arm on one side. We report two cases of pregnant women with Klippel Trenaunay syndrome of which one patient presented with Kasabach Merritt Syndrome (refractory coagulopathy). 24-year-old primigravida of 29 weeks with KTS presented with bleeding gums for two days. Known case of diabetes, hypothyroid on treatment and treated TB lymphadenopathy. She had hypertrophy with varicosities and haemangiomas on left lower limb and vulvar region. She was treated for thrombocytopenia at 19 weeks gestation with steroids. Laboratory studies revealed thrombocytopenia. Steroids were given as per haematologist opinion for thrombocytopenia. She had emergency caesarean section with platelet transfusion at 35 weeks as per vascular surgeon opinion. Postoperatively she was given anticoagulants and steroids. 28-year-old primigravida of 39 weeks with KTS admitted for safe confinement. She had surgery for haemorrhoids at 14 years of age and had bleeding per rectum two years back. She had hypertrophy of left lower limb and cutaneous nevus in multiple dermatomes on left half of body. Doppler left lower limb shows superficial varicosities. Laboratory studies revealed normal. With multidisciplinary approach, she had elective caesarean in view of primigravida/breech-footling presentation. Post operatively she was given anticoagulants. The success in the management of these patients requires the participation of multidisciplinary approach. The use of prophylactic anticoagulant is generally advised during the pregnancy and postpartum period.

scholarly journals Emphysematous pyelonephritis with air bubble in the inferior vena cava

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Tiffany A. Perkins ◽  
Alberic Rogman ◽  
Murali K. Ankem
Keyword(s):  
Septic Shock ◽  
Inferior Vena Cava ◽  
Inferior Vena ◽  
Vena Cava ◽  
Rare Presentation ◽  
Emphysematous Pyelonephritis ◽  
Case Presentation ◽  
Air Bubble ◽  
First Case ◽  
The Right

Abstract Background Emphysematous pyelonephritis (EPN) with gas in the inferior vena cava (IVC) is a rare presentation and to our knowledge, this is the first case report in the urologic literature. Case presentation A 35-Year-old obese diabetic Hispanic female presented to the emergency room with a clinical picture of septic shock. Prompt computerized tomography scan revealed EPN with gas throughout the right renal parenchyma and extending to the right renal vein, IVC, and pulmonary artery. She died before surgical intervention Conclusion This case demonstrates that patients presenting with severe EPN have a high mortality risk and providers should acknowledge that septic shock, endogenous air emboli, or a combination of both could result in cardiovascular collapse and sudden death.

scholarly journals An oral combined contraceptive user with elevated D-dimer post COVID-19: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nada A. Alyousefi
Keyword(s):  
Emergency Room ◽  
Lower Limb ◽  
Varicose Veins ◽  
Hormonal Contraception ◽  
Oral Contraception ◽  
Contraceptive User ◽  
Lower Limb Pain ◽  
The Right ◽  
D Dimer ◽  
Ethinyl Oestradiol

Abstract Background This case discusses the challenges created by COVID-19 (coronavirus disease 2019) in the area of hormonal contraception, highlighting the contraception knowledge gap for women in their post COVID-19 period, especially if they had high D-dimer levels. Case presentation This case involves a thirty-eight-year-old woman taking combined oral contraception (desogestrel/ethinyl oestradiol tablets) with a history of varicose veins. She recovered from a COVID-19 infection in November 2020. She presented to the emergency room with right lower-limb pain below the knee and progressive swelling for five days in February 2021. Physical examination of the lower limb showed mild swelling and tenderness of the right leg compared to the left leg. D-Dimer was elevated (1.06 mcg/mL FEU). COVID-19 screening was negative. A Doppler scan to exclude DVT was performed considering the clinical picture and high D-dimer level. There was no evidence of DVT in the right limb. She was reassured and discharged with instructions on when to visit the emergency room. The D-dimer had decreased to 0.53 mcg/mL FEU in March 2021. She booked an appointment with family medicine clinics because she was concerned about the continuation of combined oral contraception (desogestrel/ethinyl oestradiol tablets) with high D-dimer and risk of thrombosis. The follow-up D-dimer level in May 2021 was normal (0.4 mcg/mL FEU). The patient preferred to continue taking oral contraception. Conclusion An evidence-based consensus is needed to guide clinicians in providing contraception counselling for such patients.

Arteries masquerading as varicose veins: A trap for phlebologists

2014 ◽  
Vol 30 (10) ◽  
pp. 729-735 ◽  
Author(s):  
L Jones ◽  
K Parsi
Keyword(s):  
Saphenous Vein ◽  
Lower Limb ◽  
Varicose Veins ◽  
Duplex Ultrasound ◽  
Tissue Loss ◽  
Injection Sclerotherapy ◽  
Ultrasound Guided ◽  
History Of ◽  
The Right

Ultrasound guided sclerotherapy may be complicated by intra-arterial injections resulting in significant tissue necrosis. Here, we present a 69-year-old man with a history of right small saphenous vein “stripping”, presenting for the treatment of symptomatic lower limb varicose veins. Duplex ultrasound of the right lower limb outlined the pathway of venous incompetence. Despite the history of “stripping”, the small saphenous vein was present but the sapheno-popliteal junction was ligated at the level of the knee crease. No other unusual findings were reported at the time. During ultrasound guided sclerotherapy, subcutaneous vessels of the right posterior calf were noted to be pulsatile on B-mode ultrasound. Treatment was interrupted. Subsequent angiography and sonography showed absence of the right distal popliteal artery. A cluster of subcutaneous vessels of the right medial and posterior calf were found to be arterial collaterals masquerading as varicose veins. Injection sclerotherapy of these vessels would have resulted in significant tissue loss. This case highlights the importance of vigilance at the time of treatment and the invaluable role of ultrasound in guiding endovenous interventions.

Young adult with varicosities and recurrent lower gastrointestinal bleeding

2019 ◽  
Vol 6 (8) ◽  
pp. 3012
Author(s):  
Vidhyachandra V. Gandhi ◽  
Pratik Gautam ◽  
Nitin V. Pai ◽  
Sujai Hegde
Keyword(s):  
Gastrointestinal Bleeding ◽  
Sigmoid Colon ◽  
Lower Limb ◽  
Low Anterior Resection ◽  
Lower Gastrointestinal Bleeding ◽  
Lateral Side ◽  
Left Lower Limb ◽  
Left Buttock ◽  
Klippel Trenaunay Syndrome ◽  
Mr Angiogram

A 30 years gentleman presented with anaemia since last ten years due to recurrent rectal bleeding. He has had multiple admissions with transfusions in the preceding 10 years without a clear clinical diagnosis. His physical examination revealed gross pallor, prominent veins on the lateral side of the left lower limb with minimal hypertrophy and a hemangiomatous patch over the left buttock. Colonoscopy revealed a few dilated tortuous submucosal vessels in the rectum and sigmoid colon. A MR angiogram showed absent left popliteal vein and angiomatous lesions in the rectum and sigmoid colon. He was diagnosed to have Klippel-Trenaunay syndrome with hemangiomata of the lower gastrointestinal tract causing bleeding. He underwent a low anterior resection with stapled anastomosis, which has effectively controlled his bleeding. Adults with gastrointestinal bleeding due to congenital venous malformations commonly have visible external stigmata, which are often pointers of rare syndromes.

scholarly journals Rare Presentation of Unilateral Weakness, Involuntary Movements and Ataxia with Subcortical T2 Hypointensity in a Diabetic Patient: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Venkatraman Indiran ◽  
Prabakaran Maduraimuthu
Keyword(s):  
Case Report ◽  
Diabetic Patient ◽  
Upper Limb ◽  
Lower Limb ◽  
Early Identification ◽  
Common Finding ◽  
Rare Presentation ◽  
Involuntary Movements ◽  
Left Lower Limb ◽  
Unilateral Weakness

Subcortical T2 hypointensity on MRI is not a common finding. We present a case of subcortical T2 hypointensity in a diabetic patient, who was referred with weakness of left lower limb and involuntary movements and ataxia of the left upper limb. Lab reports confirmed the diagnosis of nonketotic hyperglycemia. It is rather important to identify subcortical T2 hypointensity which has only been recently found to be associated with nonketotic hyperglycemia. Early identification and prompt correction of blood sugar would help in alleviating the neurological symptoms.

scholarly journals Diagnosis of stenosis within the popliteal–femoral venous segment upon clinical presentation with a venous ulcer and subsequent successful treatment with venoplasty

2017 ◽  
Vol 5 ◽  
pp. 2050313X1774051
Author(s):  
Emma Dabbs ◽  
Alina Sheikh ◽  
David Beckett ◽  
Mark S Whiteley
Keyword(s):  
Saphenous Vein ◽  
Lower Limb ◽  
Varicose Veins ◽  
Venous Ulcer ◽  
Distal Region ◽  
Duplex Ultrasonography ◽  
Venous Ulceration ◽  
Venous Collaterals ◽  
The Right ◽  
Venous Segment

This case study reports the diagnosis and treatment of a lower limb venous ulcer with abnormal underlying venous pathology. One male patient presented with bilateral varicose veins and a right lower limb ulcer. Upon investigation, full-leg duplex ultrasonography revealed total incompetence of the great saphenous vein in the left leg. In the right leg, duplex ultrasonography showed proximal incompetence of the small saphenous vein, and dilation of the anterior accessory saphenous vein, which remained competent. Incidentally, two venous collaterals connected onto the distal region of both these segments, emerging from a scarred, atrophic popliteal–femoral segment. An interventional radiologist performed venoplasty to this popliteal–femoral venous segment. Intervention was successful and 10 weeks post procedure ulceration healed. Popliteal–femoral venous stenosis may be associated with venous ulceration in some cases and may be successfully treated with balloon venoplasty intervention.

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