Down syndrome with congenital hydrocephalus: case report

Abstract

-Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome.

A role for sorting nexin 27 in AMPA receptor trafficking

“…Histological examination of the knockout mice revealed that mice lacking SNX27 develop congenital hydrocephalus characterized by enlarged ventricles, thinned cortex and atrophy of the periventricular white matter. A few cases of Down’s syndrome have been associated with hydrocephalus; some do not make it to term while others that survive are treated for hydrocephalus—mainly by shunting the excessive fluid17181920. It is unclear how the condition of an additional copy of chromosome 21 leads to hydrocephalus.…”

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

“…The incidence is 1/750–1/1,100 live births [2]. Congenital malformations generally interest heart and gastrointestinal tract [3, 4]. Major brain abnormalities and hydrocephalus are extremely rare [5].…”

“…The association of hydrocephalus to DS is unusual (incidence of 4/2,421 patients) [6]. There are few case reports of children with DS and hydrocephalus [4, 7-10], and the etiology of this association remains not clear [11]. Hydrocephalus is usually secondary to craniovertebral junction anomalies.…”