Neuropediatrics 2020; 51(04): 245-250
DOI: 10.1055/s-0040-1701671
Original Article
Georg Thieme Verlag KG Stuttgart · New York

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

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
,
Marie Thibaud
3   Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France
,
Nathalie Aladjidi
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
,
Pierre Bessou
6   Service de Radiologie Pédiatrique, CHU de Bordeaux, Bordeaux, France
,
Sébastien Cabasson
3   Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France
,
Cindy Colson
7   Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, Caen, France.
,
Caroline Espil-Taris
3   Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France
,
Cyril Goizet
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
,
Marie Husson
3   Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France
,
Fanny Morice-Picard
8   Centre de Référence des Maladies Rares de la Peau, Service de Dermatologie Pédiatrique, CHU de Bordeaux, Bordeaux, France
,
Annachiara De Sandre-Giovannoli
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
,
Jean-Michel Pédespan
3   Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France
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Publikationsverlauf

11. Juli 2019

28. Dezember 2019

Publikationsdatum:
06. März 2020 (online)

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Abstract

Cutis 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.