Hidrocefalia ligada al cromosoma X. Reporte de un caso

Palabras clave: Hidrocefalia cromosoma X, gen L1CAM, acueducto Silvio estenosis, sindrome L1. SUMMARY Male preterm born by cesarean at 32 weeks of gestation. The patient’s history was significant for a brother with hydrocephalus which died in the neonatal period. The physical exam revealed macrocephaly, suture diastasis and adducted thumbs. The cerebral magnetic resonance showed severe dilation of the ventricular system, scarce cortical mantel, and encephaloatrophy. A peritoneal ventricle derivation was done and at the present time the hydrocephalus is under control but their psychomotor development not improve. Reports about similar cases are review made and comments about the genetic advice are done.