RASA1-Related Parkes Weber Syndrome in a Neonate

Abstract

A male infant was admitted to our neonatal intensive care unit for evaluation of severe enlargement and violaceous discolo­ ration of the left upper extremity. His mother was 35 years old and her obstetric history was gravida 3, para 2, living 1. There was no familial history of vascular disease or hemangioma. The patient was born at 39 +1 weeks of gestation by repeated Cesarean section. At the time of birth, his Apgar score was 8 at one minute and at 5 minutes. His birth weight was 3,515 g (75th to 90th per­ centile), height was 49 cm (75th to 90th percentile), and the head circumference was 35.5 cm (above 90th percentile). His vital signs were stable, with a blood pressure of 55/33 mm Hg, heart rate of 152 beats/min, respiratory rate of 27 beats/min, and body temperature of 36.5˚C. On physical examination, the infant had hypertrophy of the left upper extremity. The length of the left arm was 17 cm, 2 cm longer than the right arm, and the middle circumference of the left upper arm was 15 cm, compared to 10 cm of the right arm. The left arm movements occurred freely in the horizontal plane, but there was hardly any mobility in the vertical plane. On the affected area, the port­wine stain was observed and the violaceous color became darker during crying and activity (Figure 1). We felt local warmth with bruit over the left shoulder and upper arm.