Background: Klippel-Trenaunay-Weber syndrome is characterized by a triad of port-wine stain, venous malformation, and bony and soft tissue hypertrophy. Most patients would have two out of the three features. It is a rare disorder occurring in one out of 100000 live births. Diagnosis is largely clinical. The cause is unknown but could be due to a sporadic genetic mutation. Management is conservative.
Objective and hypotheses: We report a case of a 4month-old-boy with clinical features in keeping with Klippel-Trenaunay-Weber syndrome.
Method: Case report.
Results: Product of a full term uneventful pregnancy period delivered to non consanguineous apparently healthy parents. He weighed 6.72 kg (5th centile) and his length was 60.5 cm (25th centile). The child was dysmorphic with flattened nasal bridge, low set ears, widened anterior fontanelle with metropic sutural diastasis. There was facial asymmetry with the left side larger than the right. There was crossed hemihypertrophy with the right limbs larger than the left. The child also had a capillary haemangioma over the lateral surface of the right upper limb. Systemic review was normal. The child has remained clinically stable while investigations have been hampered by financial constraints as there is no medical insurance. Main problem is cosmetic as parents are concerned about his appearance. Child is being managed by a multidisciplinary team comprising endocrinologists, plastic and orthopaedic surgeons. The child is currently being followed up closely on out-patient basis.
Conclusion: This is an interesting case of crossed hemihypertrophy and also the first case of Klippel-Trenaunay-Weber syndrome reported in Africa. This report is to increase awareness of this rare condition and to motivate research.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology