"L1 disease is the most common genetic cause of congenital hydrocephalus. Mutations in the L1CAM gene are associated with an overlapping clinical spectrum of four X-linked neurological conditions, characterized by hydrocephalus, mental retardation, lower limb spasticity and adducted thumbs," scientists writing in the journal European Radiology report (see also Hydrocephalus).

"Brain anomalies are frequently present in L1 disease. We describe these anomalies by reporting a case of a male newborn presenting with congenital hydrocephalus along with Corpus callosum agenesis and enlargement of the massa intermedia. These findings, in association with the presence of clasped thumbs, raised the Suspicion of L1 disease, which was confirmed by the detection of a Mutation in the L I CAM gene," wrote T. Nunes and colleagues.

The researchers concluded: "In cases of congenital hydrocephalus, recognition of the brain anomalies associated with L I disease may contribute to pursuing the genetic analysis needed for the diagnosis and genetic counseling."

Nunes and colleagues published their study in European Radiology (Congenital hydrocephalus and L1 disease: a case report (2009: 7b). European Radiology, 2009;19(10):2551-2554).

Additional information can be obtained by contacting T. Nunes, Hospital Garcia de Orta, Service Neuroradiology, Avenue Torrado Silva, P-2801951 Pragal, Almada, Portugal.

The publisher of the journal European Radiology can be contacted at: Springer, 233 Spring St., New York, NY 10013, USA.