Hidrocefalia ligada al cromosoma X (síndrome de Bickers­Adams). Presentación de un caso confirmado por la genética molecular

Abstract

Listen

Translate article

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). A baby whose family and clinical history, neuroimaging and genetic studies lead to the diagnosis of HLX. 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.