title: Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.
abstract: Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with CTX. Diarrhea almost always developed within the first year of life. Cataract and school difficulties usually occurred between 5 and 15 years of age preceding by years the onset of motor or psychiatric symptoms. The median age at diagnosis was 24.5 years old. It appears critical to raise awareness about CTX among paediatricians in order to initiate treatment before irreversible damage occurs.
authors.affiliation: AP-HP, Département des Maladies du Système Nerveux, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Degos
authors.affiliation: AP-HP, Département des Maladies du Système Nerveux, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
authors.forename: Yann
authors.initials: Y
authors.lastname: Nadjar
authors.affiliation: AP-HP, Département des Maladies du Système Nerveux, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
authors.forename: Maria del Mar
authors.initials: Mdel M
authors.lastname: Amador
authors.affiliation: AP-HP, Département de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.|AP-HP, UF Neurométabolique Bioclinique et Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.|Sorbonne Universités, GRC Neurométabolisme, UPMC Univ Paris 6, Paris, France.
authors.forename: Foudil
authors.initials: F
authors.lastname: Lamari
authors.affiliation: MedDay Pharmaceuticals, Institut du Cerveau et de la Moelle épinière, Paris, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
authors.affiliation: AP-HP, Département des Maladies du Système Nerveux, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.|UPMC Univ Paris 6 UMR S 1127, Inserm U 1127, CNRS UMR 722, Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, Paris, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.affiliation: AP-HP, Service de Biochimie Endocrinienne et Oncologique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Couvert
authors.affiliation: AP-HP, UF Neurométabolique Bioclinique et Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. fanny.mochel@upmc.fr.|Sorbonne Universités, GRC Neurométabolisme, UPMC Univ Paris 6, Paris, France. fanny.mochel@upmc.fr.|UPMC Univ Paris 6 UMR S 1127, Inserm U 1127, CNRS UMR 722, Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, Paris, France. fanny.mochel@upmc.fr.|AP-HP, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75651, Paris, Cedex 13, France. fanny.mochel@upmc.fr.
authors.forename: Fanny
authors.initials: F
authors.lastname: Mochel
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis*; D055815:Young Adult
keywords: Cataract; Cerebellar ataxia; Cerebrotendinous xanthomatosis; Cognitive dysfunction; Diarrhea; Psychiatric symptoms