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Archives de pédiatrie
Volume 18, n° 2
pages 156-159 (février 2011)
Doi : 10.1016/j.arcped.2010.11.014
Received : 5 October 2009 ;  accepted : 26 November 2010
Syndrome d’Hutchinson-Gilford (progéria). À propos de 3 cas
Three cases of Hutchinson-Gilford progeria syndrome
 

Y. Doubaj a, , A. Lamzouri a, S.-C. Elalaoui a, F.-Z. Laarabi a, A. Sefiani a, b
a Département de génétique médicale, Institut national d’hygiène, 27, avenue Ibn-Batouta, BP 769, Rabat, Maroc 
b Centre de génomique humaine, faculté de médecine et de pharmacie, université Mohamed V Souissi, Rabat, Maroc 

Auteur correspondant.
Résumé

La progéria ou syndrome de Hutchinson-Gilford (HGPS) est une maladie génétique rare, de transmission autosomique dominante, caractérisée par un vieillissement précoce et accéléré. Son incidence est de 1 à 4 pour 8 millions de naissances. Sur le plan clinique, les patients présentent une dysmorphie faciale caractéristique, une atteinte cutanéophanérienne, une atteinte osseuse avec raideur articulaire et une athérosclérose sévère d’apparition tardive. Le décès survient entre l’âge de 6 et 20 ans en raison des complications cardiaques et cérébrovasculaires. Le diagnostic est à la fois clinicoradiologique et moléculaire par la recherche des mutations du gène LMNA et en premier, la mutation récurrente p.Gly608Gly retrouvée dans la majorité des cas. Nous rapportons, les cas de 3 enfants âgés respectivement de 5, 11 et 12 ans, adressés en consultation de génétique pour dysmorphie faciale et retard staturopondéral, chez lesquels le diagnostic de syndrome de progéria a été posé sur la base d’éléments cliniques et paracliniques. Une analyse moléculaire a été réalisée chez ces 3 patients en recherchant la mutation récurrente c.1824C›T (p.Gly608Gly) qui a été retrouvée chez l’un d’entre eux. À travers ces observations, nous essayerons de montrer le rôle de la génétique dans le diagnostic étiologique des syndromes dysmorphiques rares et l’importance du conseil génétique des parents, et à travers leur comparaison, nous tenterons de préciser le spectre clinique de la progéria.

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Summary

Progeria, or Hutchinson-Gilford syndrome, is a rare genetic disease, characterized by several clinical features that develop in childhood, in particular, an accelerated aging aspect. Its incidence is 1–4 per 8 million newborns. Children with progeria syndrome usually appear normal at birth and in early infancy. Profound failure to thrive occurs during the 1st year. Characteristic facies, partial alopecia progressing to total alopecia, loss of subcutaneous fat, stiffness of joints, bone changes, and abnormal tightness of the skin over the abdomen and upper thighs usually become apparent during the 2nd to 3rd years. Motor and mental development is normal. Patients develop severe atherosclerosis. Death occurs as a result of complications of cardiac or cerebrovascular disease (heart attack or stroke) generally between ages 6 and 20 years. The diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) is based on recognition of common clinical features and the detection of the recurrent p.Gly608Gly mutation in exon 11 of the LMNA gene, which is present in almost all individuals with HGPS. We present here 3 patients aged 5, 11, and 12 years referred to genetic consultation for dysmorphic facies and failure to thrive. After careful clinical examination and paraclinical assessment, the diagnosis of progeria syndrome was raised. We performed molecular analysis for the 3 patients by searching for the recurrent mutation c.1824C>T (p.Gly608Gly) of the LMNA gene, which was found only in 1 patient. We discuss the geneticist’s role in the diagnosis of rare dysmorphic syndromes and their genetic counseling. We also analyze the clinical spectrum of HGPS by comparing the 3 patients.

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