Classical West “syndrome” phenotype with a subtelomeric 4p trisomy

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2004-10, Vol.130A (3), p.299-302
Main Authors: 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.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Child
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 4 - genetics
cytogenetics
facial dysmorphism
Female
FISH
Follow-Up Studies
Humans
In Situ Hybridization, Fluorescence
Infant
infantile spasms
Intellectual Disability - pathology
karyotype
Karyotyping
mental retardation
Phenotype
Spasms, Infantile - pathology
Syndrome
Telomere - genetics
Trisomy
West syndrome
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Summary: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 pregnancy. Karyotyping of both parents was done because of mild dysmorphic features in the proband, and to eliminate other causes than early age epilepsy as the etiology of her mental retardation. Parental karyotypes showed a balanced paternal translocation (4p;17q) resulting in partial 4p trisomy, without significant 17q monosomy in the proband. Chromosomal abnormalities usually lead to a severe West syndrome with poor prognosis of neurological outcome (persistent severe epilepsy, mental retardation, and behavioral disturbances). The presence of an undetected cytogenetic anomaly in our proband with transient hypsarythmia is unusual and led us to propose systematic telomeric screening in apparently “idiopathic” West syndrome patients with mild mental retardation and subtle dysmorphic features. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30314