Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case.
A full-term female neonate presented with facial port-wine stain, cutaneous telangiectasia, left facial hemihypertrophy, and left hemimegalencephaly at birth and subsequently developed hypertrophic change of left limb. She fit the diagnostic criteria of Klippel-Trenaunay-Weber syndrome. However, it was an unusual variant of this syndrome because the patient had left facial hemihypertrophy, left hemimegalencephaly and ipsilateral ventriculomegaly. Although patients with hemimegalencephaly are commonly thought to be associated with neurological defects, such as developmental delay, mental retardation and intractable seizure, she had normal neurological development and no seizure was detectable until two years of age.
Chen
P C
PC
Department of Pediatrics, Taipei Municipal Women and Children's General Hospital, Taiwan, R.O.C.
Shu
W C
WC
D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D004292:Dominance, Cerebral / Q000502:physiology; D005146:Facial Asymmetry / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination