[Genetics of epilepsy].

In the last few years, the presence of specific genetic abnormalities leading to some of the classical epileptic syndromes has been clearly elucidated. This means that for the first time, it has become possible to create a strong relationship between the presence of specific genomic and/or proteomic abnormalities and epileptic syndromes previously considered to be "idiopathic". The majority of such genetic defects have been found in genes coding for either ion channels and/or membrane receptors, a fact that somehow seems to confirm the previously postulated importance of the latter structures in the electrochemical activity of neurons.

Radiological evidence of early cerebral microvascular disease in young children with Fabry disease.

We report on 2 children with Fabry disease who had radiologic evidence of microvascular central nervous system involvement despite the clinical absence of renal, cardiac, or cerebral manifestations. This suggests that treatment with enzyme replacement therapy may be necessary early in the disease to avoid irreversible complications.

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation.

A 2 month old male infant was found to have mild growth retardation, prominent forehead, low set ears, low nasal bridge, rounded facies, cleft palate, webbed neck, shawl scrotum, and absent right kidney. The propositus, a product of a consanguineous marriage, had extremely rare abnormal cytogenetic findings. His karyotype contained three derivative chromosomes that originated from a familial translocation, t(16;18)(p13.

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

Background And Purpose: Fabry disease is an X-linked inherited disorder resulting from a deficiency of alpha-galactosidase A. Cerebrovascular disease in Fabry disease includes small-vessel disease and larger-vessel ectasia in a predominantly posterior distribution. We assessed transcranial Doppler (TCD) blood flow velocities in naive and enzyme-treated Fabry patients.