[X-linked hydrocephalus (Brickers-Adams syndrome). A case report confirmed by molecular genetic studies].
BACKGROUND
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).


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


CONCLUSIONS
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.
Santos
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F
Servicio de Pediatría, Hospital Geral Santo António, Porto, Portugal.
Temudo
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T
D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014960:X Chromosome
D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules