Table of Contents
Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Hemimegalencephaly | 3A0 Case 3 History
This patient was a five day old 36 week gestation infant with dysmorphic features (short nose, depressed nasal bridge, low-set ears, hypertelorism, increased size of right foot, leg and thigh with syndactyly of the second and third toes on the right. This case is reminiscent of Klippel-Trenaunay-Weber syndrome, a syndrome associated with hemimegalencephaly, hemihypertrophia of the limbs with vascular anomalies in the affected limbs. Other associations have also been identified. The patient also developed pulmonary hypertension and significant cardiomegaly. The weight of the unfixed brain was 580 g (normal for gestational age 388-480 grams); the right hemisphere weighed 238 g, while the left cerebral hemisphere weighed 313 g, approximately a 30% difference.
