title: A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.
abstract: Fucosidosis is a rare autosomal recessive lysosomal storage disorder in which fucose-containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of α-L-fucosidase. In this report we describe clinical, dysmorphological and radiological findings of a boy with this disorder. Developmental delay, skeletal deformities and mild coarsening of the face began at two years of age. Clinical signs typical for fucosidosis evolved over time. Psychomotor deterioration progressed slowly. At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features. A skeletal survey showed dysostosis multiplex. Cranial MRI demonstrated high intensities on the periventricular white matter and low intensities on the basal ganglia on T2-weighted images. Despite the absence of angiokeratoma on the skin, type II fucosidosis with clinical, dysmorphological and radiological signs was suspected. The diagnosis was established on the basis of severely decreased activity of α-L-fucosidase in the leukocytes. The natural history and specific dysmorphic and radiological findings should, even in the absence of angiokeratoma, assist in the differential diagnosis of this rare condition when lysosomal storage disorders are suspected, particularly in populations in which consanguineous marriages are common.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. kilickorkmaz@yahoo.com.tr.
authors.forename: Esra
authors.initials: E
authors.lastname: Kılıç
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kılıç
authors.forename: G Eda
authors.initials: GE
authors.lastname: Ütine
authors.forename: Serap
authors.initials: S
authors.lastname: Sivri
authors.forename: Turgay
authors.initials: T
authors.lastname: Coskun
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
mesh_terms: D000015:Abnormalities, Multiple; D057215:Body Dysmorphic Disorders / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005645:Fucosidosis / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male