RESUMO
This report describes a sporadic case of dysplasia epiphysealis hemimelica that developed in the proximal tibia of a 21-month-old girl. Three years after the surgical intervention the patient has made complete clinical recovery with a normal range of motion, a walk with no limping or pain, no leg length discrepancy or angular knee deformity. Even though the proximal tibia does not represent an infrequently involved site, we report the clinical, pathological and radiological features of our case both for the extreme rarity of dysplasia epiphysealis hemimelica and the very young age of the patient. The authors underline also the role of magnetic resonance imaging in the diagnosis, management and follow-up of this very rare condition.
Assuntos
Epífises/patologia , Imageamento por Ressonância Magnética , Osteocondrodisplasias/diagnóstico , Tíbia , Artrografia , Feminino , Seguimentos , Humanos , Lactente , Articulação do Joelho/diagnóstico por imagem , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Tomografia Computadorizada por Raios XRESUMO
Craniofacial dyssynostosis (CFD) is a rare disorder related to premature closure of the lambdoid suture and the posterior part of the sagittal suture. Epilepsy, mental retardation, abnormalities of the corpus callosum, and short stature have been reported. We studied a patient with CFD, hydronephrosis, and partially empty sella turcica; the latter two features are reported for the first time. We discuss the brain anomalies and their neurologic sequelae, which are part of the CFD phenotype.