title: Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder.
abstract: Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. We present a case of a 4-year, 11-month-old girl with developmental delay, as well as skeletal and brain abnormalities as shown on X-ray and MRI. Her spinal X- rays demonstrated lumbar kyphosis and anterior beaking of lumbar vertebral bodies. Lower iliac segment constriction, increased angulation of the acetabular roof, and widening of the ribs were apparent on abdominal X-ray. Her brain MRI illustrated symmetric T1 hyperintensity and T2 hypointensity of the bilateral globi pallidi. The case report highlights clinical and imaging findings of this rare disease.
authors.affiliation: University of California San Diego School of Medicine, La Jolla, California, USA.
authors.forename: Camille
authors.initials: C
authors.lastname: Malatt
authors.affiliation: University of California San Diego, Department of Radiology, San Diego, California, US.
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Koning
authors.affiliation: University of California San Diego, Department of Radiology, San Diego, California, US ; Rady Children's Hospital, Department of Radiology, San Diego, California, USA.
authors.forename: John
authors.initials: J
authors.lastname: Naheedy
mesh_terms: D000077:Acetabulum / Q000000981:diagnostic imaging; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D005645:Fucosidosis / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology*; D006801:Humans; D007085:Ilium / Q000000981:diagnostic imaging; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D011379:Prognosis; D012272:Ribs / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
keywords: CT; Fucosidosis; MRI; brain; lysosomal storage disorder; radiography; skeletal