title: Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding.
abstract: Krabbe's disease (KD) and metachromatic leucodystrophy (MLD) are both lysosomal storage disorders that share some common MRI features. Amongst the imaging findings useful to distinguish one from the other, optic chiasm/nerves thickening have been described as specific key features for differential diagnosis favouring KD. We report the first case of enlargement of the optic nerves and chiasm described in a patient with genetically confirmed MLD.
authors.affiliation: Great Ormond Street Hospital, UK.
authors.forename: Dylan
authors.initials: D
authors.lastname: Roi
authors.affiliation: Great Ormond Street Hospital, UK.
authors.forename: Kshitij
authors.initials: K
authors.lastname: Mankad
authors.affiliation: Great Ormond Street Hospital, UK.
authors.forename: Marios
authors.initials: M
authors.lastname: Kaliakatsos
authors.affiliation: Great Ormond Street Hospital, UK.
authors.forename: Maureen
authors.initials: M
authors.lastname: Cleary
authors.affiliation: Great Ormond Street Hospital, UK.
authors.forename: Adnan
authors.initials: A
authors.lastname: Manzur
authors.affiliation: Great Ormond Street Hospital, UK darcofel@gmail.com.
authors.forename: Felice
authors.initials: F
authors.lastname: D'Arco
mesh_terms: D002420:Cauda Equina / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000000981:diagnostic imaging* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009900:Optic Nerve / Q000000981:diagnostic imaging* / Q000473:pathology*; D013788:Thalamus / Q000000981:diagnostic imaging / Q000473:pathology
keywords: Krabbe’s disease; Metachromatic leucodystrophy; cranial nerves enhancement; lysosomal storage diseases; magnetic resonance imaging; optic nerves