Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA-Reference-Cited by-同舟云学术

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

Published:2020-03-06 Issue:04 Volume:51 Page:245-250
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Angelini Chloé¹²^ORCID,Thibaud Marie³,Aladjidi Nathalie⁴⁵,Bessou Pierre⁶,Cabasson Sébastien³,Colson Cindy⁷,Espil-Taris Caroline³,Goizet Cyril¹²,Husson Marie³,Morice-Picard Fanny⁸,De Sandre-Giovannoli Annachiara⁹¹⁰,Pédespan Jean-Michel³

Affiliation:

1. Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, University of Bordeaux, Bordeaux, France

2. Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France

3. Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France

4. Pediatric Hematology Unit, CIC1401, INSERM CICP, University Hospital of Bordeaux, Bordeaux, France

5. Centre de référence national des cytopénies auto-immunes de l'enfant (CEREVANCE), University Hospital of Bordeaux, Bordeaux, France

6. Service de Radiologie Pédiatrique, CHU de Bordeaux, Bordeaux, France

7. Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, Caen, France.

8. Centre de Référence des Maladies Rares de la Peau, Service de Dermatologie Pédiatrique, CHU de Bordeaux, Bordeaux, France

9. Service de Génétique Médicale, Hôpital La Timone Enfants, AP-HM, Marseille, France

10. CRB-TAC, Centre de ressources biologiques de l'AP-HM, Hôpital La Timone Enfants, AP-HM, Marseille, France

Abstract

AbstractCutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1701671.pdf

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An Algorithmic Approach to MR Imaging of Hypomyelinating Leukodystrophies;Journal of Magnetic Resonance Imaging;2024-08-20

2. Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature;European Journal of Medical Genetics;2022-09

3. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings;Clinical Dysmorphology;2021-12-24