Klippel - trenaunay - weber syndrome.

7 days old baby was admitted in Kamla Raja Raja Hospital with complaints of swelling on upper limb and lower limb. Polydactly of fingers and toes were present. All systems were normal Lab investigation - Blood examination was normal Ultrasound of abdomen, Echocardiography and CT scan of brain - Normal.

INTRODUCTION

Klippel - Trenaunay - Weber syndrome is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nerve flammeus (port-wine stain), venous, lymphatic malformations and soft-tissue hypertrophy of the affected limb.

Typical - All features are present.

Atypical – All features are present except port - wine stain.

Genetics

Boys and girls are equally affected, and the occurrence is not limited to any racial group. There is some evidence that it is associated with a translocation at t (8;14) (q 22.3;q13).

Causes, incidence, and risk factors

BLIZNAK and Stable suggested intrauterine damage to the sympathetic ganglia or intermediolateral tract leading to dilated microscopic arteriovenous anastomoses.

Tests

Multidetector row computed tomography arteriography Ultrasonography, contrast venography and arteriography, and nuclear MRI.

CASE REPORT

A 7-day-old new born baby was admitted with complains of swelling over upper limb and lower limb [Figures 1 and 2]. Lab investigation - thyroid profile, serum protein-7 gm, chest X-ray PA view, ultrasound of abdomen, echocardiography, and computerized tomography (CT) scan of brain were normal.

Figure 1

Seven days old newborn showing swelling of both feet (anterior aspect)

Figure 2

Seven days old newborn showing swelling of both feet (posterior aspect)

Treatment

Non surgical - Parent is advised for sclerotherapy for varicose vein develop.

Compressive therapy - when children may benefit from compression therapy, Surgical: Debulking.

DISCUSSION

Klippel-Trenaunay's syndrome is a congenital disorder. The exact cause of KTW syndrome remains to be elucidated, Most cases are sporadic but few cases show autosomal dominant pattern of inheritance.[1]