ARNOLD-CHIARI MALFORMATION: LITERATURE REVIEW AND CLINICAL CASE IN SIBLINGS

Abstract

Arnold-Chiari malformation is a defectof the cervical-medullar transition characterized bydisplacement of the cerebellar tonsils and in a numberof cases when the stem and IV ventricle extend into theforamen magnum. There are four main types of pathology,and type II is found most often.The article presents a clinical case of type II ArnoldChiari malformation in siblings. The newborn girl born afterVII pregnancy and VII physiological delivery in the termof 39-40 weeks was under observation. US examination inthe terms of 20-21 and 34 weeks of gestation diagnoseda congenital developmental defect of the central nervoussystem characterized by a “lemon”-like shape of the brain,displacement of the brain structures in the portion of theforamen magnum, ventriculomegaly, a defect of the lumbarsacral portion with formation of hernia sac, and dropsy ofamnion. The family couple refused from interruption ofpregnancy and medical-genetic examination.The basic diagnosis of the child was congenitaldevelopmental defect of the central nervous system(type II Arnold-Chiari malformation: rachischisis andhydrocephalus) including complications such as inferiortorpid paraplegia and dysfunction of the pelvic organs.Investigation of hereditary anamnesis foundcompromised heredity on the mother’s side (her mother’ssibling has Down’s syndrome), and IV child in the familyis disabled from birth due to a congenital developmentaldefect of the central nervous system – type II Arnold-Chiarimalformation.The family couple refused from a comprehensivemedical-genetic consultation during the previous andcurrent pregnancies, and magnetic-resonance imaging ofthe child.