title: [Mucopolysaccharidoses in children. Experience of a general pediatric service. 11 cases].
abstract: The mucopolysaccharidosis are hereditary diseases. The neurological attack constitutes the principal factor of gravity of these affections. We conducted a retrospective study over a period of 12 years (1988-1999) in the pediatric department of Sfax University Hospital. This study allowed us to observe 11 cases of mucopolysaccharidosis confirmed by an enzymatic proportioning, with 3 cases of Hurler disease (IH), 3 cases of the disease of sanfilippo, (two II A and one III B), 3 cases of the disease of Morquio A (type IVA) and 2 cases of the disease of Maroteaux Lamy (type VI). A sex ratio of 1.75. The parents were cousins in 90% of the cases. The age of revelation ranged between 6 months to 4 years. The clinical examination has found a staturo-pondral delay in 81.8% of the cases, a craniofacial dysmorphy in 100%, deformations of the rachis in 63.6% of the cases, a psychomotor regression in 54.5% of the cases, a medullary compression in 18% of the cases, hepatosplenomegaly in 36.4%, and corneal opacities in 45.4% of the cases. The therapeutic treatment was limited to the symptomatic measures with genetic consulting and antenatal diagnosis.
authors.affiliation: Service de pédiatrie, Hôpital Hedi Chaker Sfax.
authors.forename: M
authors.initials: M
authors.lastname: Chaabouni
authors.forename: M
authors.initials: M
authors.lastname: Ben Slimen
authors.forename: M
authors.initials: M
authors.lastname: Boudawara
authors.forename: H
authors.initials: H
authors.lastname: Ben Amar
authors.forename: A
authors.initials: A
authors.lastname: Mahfoudh
authors.forename: F
authors.initials: F
authors.lastname: Ayadi
authors.forename: N
authors.initials: N
authors.lastname: Ben Halima
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
authors.forename: A
authors.initials: A
authors.lastname: Karaay
authors.forename: A
authors.initials: A
authors.lastname: Triki
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005817:Genetic Counseling; D006785:Hospitals, University; D006801:Humans; D007223:Infant; D008297:Male; D009083:Mucopolysaccharidoses / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D010372:Pediatrics; D010375:Pedigree; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D017678:Sex Distribution; D014416:Tunisia / Q000453:epidemiology
vernacular_title: Les mucopolysaccharidoses de l'enfant. Expérience d'un service de pédiatrie générale. A propos de 11 cas.