Klippel Trenaunay Syndrome
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PICTURE OF THE MONTH
Klippel Trenaunay Syndrome Bushu Harna 1
&
Shekhar Tomar 1
Received: 31 August 2019 / Accepted: 31 December 2019 # Dr. K C Chaudhuri Foundation 2020
A 4-yr-old boy presented with right lower limb hypertrophy, bilateral foot deformity and difficulty in walking. There was no relevant past medical or family history. The child had no siblings. On examination the right lower limb was hypertrophied with bilateral divergent foot deformity. The affected limb was longer and larger in girth. The thigh and calf of the right limb were bulkier than the left one. Although the tibia was 3 mm longer in the affected limb but overall right lower limb was 2 cm longer depicting soft tissue hypertrophy. There was port wine stain (Fig. 1: Panel a black arrow) on the posterolateral aspect of the thigh extending till mid-calf. There were small dilated veins (Fig. 1: Panel a white arrow) seen on the lateral aspect of the calf. Ultrasonography of the lower limb was done to rule out any evidence of deep vein thrombosis. In the presence of these characteristic features the diagnosis of Klippel Trenaunay syndrome was established. It is a rare congenital vascular disorder with incidence of 1 in 100,000. Bilateral lower limb X-rays depicted right tibia (Fig. 1: Panel b) was longer than the left with divergence of metatarsal bones in both feet. Spine and rest of the systemic examination was normal. The child was managed with physiotherapy and gait training. Klippel-Trenaunay syndrome (KTS) is a complex congenital disorder that historically has been defined as the triad of capillary malformation, venous malformation, and limb overgrowth [1]. It generally involves lower limb though upper limb and trunk may be involved rarely. KTS is a slow-flow combined vascular disorder involving abnormal capillaries, lymphatics and veins. The presentation of KTS may involve
* Bushu Harna [email protected] 1
Department of Orthopedics, Maulana Azad Medical College, New Delhi, India
geographic capillary stains at birth [2]. Lymphatic malformation presents as localized or generalized overgrowth caused by micro- and macrocystic anomalies, sometimes in association with lymphedema. Varicosities of vein are generally present and seen in the affected limb. Typically, there are anomalous embryonic veins called the “marginal system.” Varicosities may become prominent with age of the child and are generally apparent in infancy. Such dilatation of veins can trigger coagulopathy; in severe cases can lead to disseminated intravascular coagulopathy. The overgrowth of the limb involved is generally unilateral though bilateral limbs can be involved. The involved limb outgrows the other limb in terms of length and circumference. The cause of KTS is a somatic mutation in primitive cells in the gene PIK3CA [3], that form a limb that are destined to become blood and lymphatic vessels, fat, and bones. KTS is not an inheritable disease. KTS is mostly diagnosed clinically based on physical signs and symptoms. Computer tomography and magnetic resonance imagi
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