ABSTRACT
Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q usually demonstrates characteristic facial appearance, developmental delay, brain and ocular anomalies, severe growth retardation, congenital heart disease, renal and genitourinary malformations, omphalocele, and skeletal and limb anomalies with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 3q in Korea. We present the case of partial trisomy 3q with omphalocele from maternal balanced translocation, which was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings.
Subject(s)
Female , Humans , Pregnancy , Pregnancy , Brain , Chorionic Villi Sampling , Extremities , Heart Defects, Congenital , Hernia, Umbilical , Korea , Pregnancy Trimester, First , Prenatal Diagnosis , TrisomyABSTRACT
Intracranial arachnoid cysts are collections of clear fluid within the arachnoid membrane because of nondisjunction or duplication of the structure. They are rare, represent only 1% of intracranial masses in newborns. Etiologically, they are thought to be due to maldevelopment of the arachnoid or secondary to trauma or infection. The arachnoid cyst by ultrasonogram shows characteristic well capsulated homogeneous hypoechoic cyst. Many arachnoid cysts remain asymptomatic, however, and become symptomatic later in life to cyst growth-resulting in a compression, displacement and irritation of the surrounding structures. So, early diagnosis and treatment of these cysts are important. We present two cases of arachnoid cysts diagnosed in utero by ultrasonogram. In one case, postnatal MRI was checked and confirmed arachnoid cyst with choroid plexus cyst. And other case, postnatal brain USG was checked and diagnosed arachnoid cyst. Both children are asymptomatic, and presents normal development until now. But latter children underwent surgical treatment due to persistent huge cyst and hydrocephalus.
Subject(s)
Child , Humans , Infant, Newborn , Arachnoid Cysts , Arachnoid , Brain , Choroid Plexus , Early Diagnosis , Hydrocephalus , Magnetic Resonance Imaging , Membranes , Prenatal Diagnosis , UltrasonographyABSTRACT
Presacral teratomas are rare tumors derived from embryonic germ layers. They present mostly in infancy and are extremely rare in adults. Patient with presacral teratoma in adults may be asymptomatic on initial presentation. The symptoms are due to their size, to the compression of pelvic viscera or to their complications. CT or MRI are the important investigations for characterization of the mass, evaluation of its intrapelvic extension and relationship to other structures. The treatment of presacral teratomas is mainly complete surgical resection. We report a case of presacral teratoma in 47-year-old woman with a brief review of the literatures.