{Reference Type}: Case Reports
{Title}: [X-linked hydrocephalus (Brickers-Adams syndrome). A case report confirmed by molecular genetic studies].
{Author}: Santos F;Temudo T;
{Journal}: Rev Neurol
{Volume}: 31
{Issue}: 11
{Year}: Dec 2000 1
{Factor}: 1.235
{Abstract}: <B>BACKGROUND: </B>X-linked hydrocephalus (HLX) is a form of hydrocephalus with recessive transmission linked to the X chromosome, and a recurrence rate of 50% in male foetuses. It is the commonest genetic form of congenital hydrocephalus, with an incidence of 1/30,000 male births. It is characterized by dilation of the lateral ventricles and mental retardation, usually severe. Other common characteristics are abducted thumbs and spastic paraplegia (or quadriplegia).<BR><B>METHODS: </B>A baby whose family and clinical history, neuroimaging and genetic studies lead to the diagnosis of HLX.<BR><B>CONCLUSIONS: </B>Identification of the mutation L1CAM in this family will permit identification of the carriers and make it possible to give genetic counselling and prenatal diagnosis.