Article
Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.
American journal of medical genetics. Part A - 15 Oct 2004
Gérard-Blanluet Marion, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant J M, Haddad B, Lopez N, Lelong F, De Villemeur T Billette, Verloes A, Borghi E
Abstract excerpt
We report a girl with mild mental retardation with onset of infantile spasms at age of 9 months. Treatment with a short course of adrenocorticotropic hormone (ACTH) was successful. Initially, a diagnosis of idiopathic West syndrome, with good neurological outcome and disappearance of epilepsy after treatment, was made. Conventional karyotype was normal. Reinvestigations were done at age 8 years, because of a new...
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