Klippel Trenaunay Syndrome, Inverse Klippel Trenaunay Syndrome: Hypertrophy of Lower Limbs and Atrophy of the Upper Limbs and Facial Muscles: Case Report and Literature Review

Abstract

Introduction: Klippel Trenaunay Syndrome (KTS) is a rare, congenital malformation. Several theories have been postulated to describe its pathogenesis. However, the exact etiology is not known. It's characterized by a triad of (1) haemangioma due to capillary malformation, (2) bone and soft tissue hypertrophy, and (3) varicose veins. Interestingly, lipoatropy rather than hypertropy of the involved limbs had been described in some cases. The clinical presentation of this syndrome is variable ranging from minimal disease to sever presentation such as significant cosmetic disfiguring, life threatening bleeding and embolism. The KTS is classified according to severity. This is important step in away to educate patients, to predict prognosis and to set treatments, especially in severe cases. Physicians should not only be attentive to the physical aspects but also to the psychological and social aspects of KTS. Case presentation:A 16-year-old boy presented with multiple port-wine stain type vascular anomalies and varicose veins. Also, there was a marked deforming enlargement of his right foot, right knee and number of his left toes with, striking gigantism of both lower limbs. This is consistent with clinical presentation of KTS. Furthermore, there were additional features matching myotonic dystrophy outlook; face showed a remarkable lipodystropy with bilateral upper limbs wasting and atrophy. This could represent the Inverse-Klippel Trenaunay Syndrome. According to our knowledge, this had never been reported to be associated with Klippel Trenaunay Syndrome Conclusion: Klippel Trenaunay and Inverse Klippel Trenaunay Syndrome can be seen in the same patient.

Klippel-Trenaunay syndrome: diagnosis in a neonate

“…Klippel-Trenaunay syndrome affects both genders equally 1. The cutaneous capillary malformation presenting as a port-wine stain and limb hypertrophy are usually noted at birth 2. Some cases presenting with atrophy and reduced growth of the affected limb have been described.…”

“…The lower extremity is the most commonly affected. However, it can involve upper limbs and extends to the trunk 2. Doppler ultrasound allows to identify abnormalities of the venous system and MRI helps to characterise vascular malformations 1 2.…”