title: Phenotypic spectrum of fucosidosis in Tunisia.
abstract: Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-L-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. This study contained the largest ever Tunisian survey of fucosidosis patients, diagnosed during the period 1987-2007. The clinical pictures and outcomes of these patients are compared with literature data. Ten patients (8 boys and 2 girls) from six unrelated families were diagnosed at a mean age of 29 ± 10.3 months. Six of the patients were diagnosed as having the more severe phenotype. The other four cases presented the low progressive phenotype. This distinction was determined by the presence or absence of angiokeratoma and age of death. For all of the patients in our survey, early motor development was more severely delayed than described in the literature. Six patients presented psychomotor decline during the second year of life. Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases). Portal cavernoma, never described in the literature, was observed in one patient. The outcomes were severe in this survey, probably owing to restricted health care; death occurred in 6 of the 10 patients before age 10 years, following recurrent pulmonary infections and neurological deterioration. No intrafamilial variability was noted in the multiplex families. The clinical presentation and outcomes of some of these patients were consistent with the continuous clinical spectrum of severity in fucosidosis attested by most clinical studies.
authors.affiliation: Paediatric Department, La Rabta Hospital, Jbal Lakhdar, Jebbari, Tunis, Tunisia. hadhami.baili@laposte.net
authors.forename: H
authors.initials: H
authors.lastname: Ben Turkia
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.forename: H
authors.initials: H
authors.lastname: Azzouz
authors.forename: M S
authors.initials: MS
authors.lastname: Abdelmoula
authors.forename: J
authors.initials: J
authors.lastname: Bouguila
authors.forename: H
authors.initials: H
authors.lastname: Sanhaji
authors.forename: N
authors.initials: N
authors.lastname: Miladi
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: N
authors.initials: N
authors.lastname: Kaabachi
authors.forename: M F
authors.initials: MF
authors.lastname: Ben Dridi
mesh_terms: D000794:Angiokeratoma / Q000453:epidemiology; D002423:Cause of Death; D002657:Child Development; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000453:epidemiology; D005260:Female; D005645:Fucosidosis / Q000175:diagnosis / Q000453:epidemiology* / Q000401:mortality / Q000628:therapy; D006306:Health Surveys; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000453:epidemiology; D010641:Phenotype; D011379:Prognosis; D012720:Severity of Illness Index; D012878:Skin Neoplasms / Q000453:epidemiology; D013997:Time Factors; D014416:Tunisia / Q000453:epidemiology