Klippel–Trenaunay syndrome – A case report

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Case Report

KlippeleTrenaunay syndrome e A case report

Vikram Khanna a,*, Sanjeev Kumar a, Raju Vaishya b

a Department of Orthopaedics, Eras Lucknow Medical College and Hospital, Lucknow, Indiab Department of Orthopaedics, Indraprastha Apollo Hospital, Delhi, India

a r t i c l e i n f o

Article history:

Received 24 February 2015

Accepted 12 March 2015

Available online xxx

Keywords:

KlippeleTrenaunay syndrome

Arteriovenous malformation

Soft tissue hypertrophy

* Corresponding author. 13, D-Road. AllahabE-mail address: 86.khanna@gmail.com (V

http://dx.doi.org/10.1016/j.apme.2015.03.0040976-0016/Copyright © 2015, Indraprastha M

Please cite this article in press as: Khannadx.doi.org/10.1016/j.apme.2015.03.004

a b s t r a c t

KlippeleTrenaunay syndrome is an uncommon genetic condition. The main pathology

consists of arteriovenous malformations. It is generally asymptomatic but may present as

soft tissue or bony hypertrophy. We hereby present a case of KlippeleTrenaunay syndrome

of an 18 year old male patient coming with large venous malformations, lymphangiomas

and A-V fistula at lower leg along with soft tissue hypertrophy of right foot. Patient was

evaluated clinically and radiologically and a diagnosis of KlippeleTrenaunay syndrome

was formed. Patient was given compression stockings and asked to followup regularly.

Copyright © 2015, Indraprastha Medical Corporation Ltd. All rights reserved.

Fig. 1 e Clinical picture showing venous malformations

and lymphangiomas.

1. Description

KlippeleTrenaunay syndrome is an uncommon yet distinct

clinical entity. It is a sporadic condition with multifactorial in-

heritance. There is no predilection for gender or any particular

ethnicity and it being a congenital condition, more and more

casesarenowbeingseenatbirth,childhoodoradolescence.This

triad constitutes of soft tissue andbonehypertrophy,Cutaneous

Vascular Malformation and Atypical Venous abnormalities.1

We report a case of young 18-year-old boy with single

lower limb involvement with large venous malformations,

lymphangiomas and A-V fistula at lower leg along with soft

tissue hypertrophy of right foot (Figs. 1 and 2). On X-ray

osteopenic changes were seen along with soft tissue swelling

and on further radiological analysis MRI (T2-weighted MR

images) revealed markedly hyper intense soft tissue swelling

predominantly in subcutaneous tissue in right gluteal region,

extending inferiorly involving the thigh (Figs. 3e5). It also

involved significant part of muscles on the posterior and

ad 211003, India. Tel.: þ9. Khanna).

edical Corporation Ltd. A

V, et al., KlippeleTrenau

postero-lateral aspect of thigh. The findings were suggestive

of arteriovenous malformation and KlippeleTrenaunay was

diagnosed. The patient was treated conservatively and was

told to apply elastic stockings and keep the limb elevated

whenever possible.

The mainstay of the treatment is conservative, surgical

procedure is used only in very distressing cases.2 These

1 7073647974.

ll rights reserved.

nay syndromeeA case report, ApolloMedicine (2015), http://

Fig. 4 e MRI image showing extent till the lower thigh.

Fig. 2 e Clinical Picture showing hypertrophy of the foot.

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cases are important to diagnose clinically and are associ-

ated with high-morbidity and mortality. This diagnosis

should be kept in mind and should be diagnosed with good

clinical acumen along with systematic radiological

investigations.

Fig. 3 e MRI image showing hyper-intense soft tissue

shadow in gluteal region.

Fig. 5 e MRI image showing the involvement of the

posterior glutei.

Please cite this article in press as: KhannaV, et al., KlippeleTrenaunay syndromeeA case report, ApolloMedicine (2015), http://dx.doi.org/10.1016/j.apme.2015.03.004

a p o l l o m e d i c i n e x x x ( 2 0 1 5 ) 1e3 3

2. Learning points

� Classical clinical and radiological picture of the condition.

� Doctors should keep this diagnosis in mind when they see

a clinical and radiological picture and should not be

misdiagnosed.

Conflicts of interest

All authors have none to declare.

Please cite this article in press as: Khanna V, et al., KlippeleTrenaudx.doi.org/10.1016/j.apme.2015.03.004

r e f e r e n c e s

1. Klippel M, Trenaunay P. Du Noevus Variquesosteohypertrophicus. Arch Gen Med (Paris). 1900;3:641e672.

2. Gloviczki P, Stanson AW, Stickler GB, et al. KlippeleTrenaunaysyndrome: the risks and benefits of vascular interventions.Surgery. 1991;110:469e479.

nay syndromeeA case report, ApolloMedicine (2015), http://

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