RESUMEN
Cystic lymphangiomas are usually located in the neck region. Less frequently, they can be found in the abdomen. In those cases, pre- and neonatal diagnosis is extremely difficult. We report on the case of a giant mesocolic cystic lymphangioma, diagnosed at birth, in a child who had been monitored during the prenatal period for what was believed to be a digestive dilatation. The progression was marked by excellent tolerance despite a complete lack of regression in the first 10 months of life. The authors discuss the prenatal signs that should suggest this diagnosis and an MRI, as well as management during the 1st year of life.
Asunto(s)
Linfangioma Quístico/diagnóstico por imagen , Mesocolon/diagnóstico por imagen , Neoplasias Peritoneales/diagnóstico por imagen , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Ultrasonografía PrenatalRESUMEN
UNLABELLED: Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized. CASE REPORT: A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter. Molecular biology showed a deletion of very small size, isolated and located between the gene missing aryl sulfatase E and the microsatellite DXS 1233, sping gene MRX2 (non-specific gene of mental retardation), and making it possible to give the reassuring elements as regards the psychomotor prognosis, sometimes compromised in this disorder. CONCLUSION: In case of chondrodysplasia punctata with dysmorphy, it is important to execute a chromosomal chart in the search for a chromosomal reorganization on the X and a study in molecular biology.