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

Chloé Angelini; Marie Thibaud; Nathalie Aladjidi; Pierre Bessou; Sébastien Cabasson; Cindy Colson; Caroline Espil-Taris; Cyril Goizet; Marie Husson; Fanny Morice-Picard; Annachiara de Sandre-Giovannoli; Jean-Michel Pedespan

doi:10.1055/s-0040-1701671

Journal articles

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

Chloé Angelini ¹ Marie Thibaud ² Nathalie Aladjidi ^{3, 4} Pierre Bessou Sébastien Cabasson ² Cindy Colson ^{5, 6} Caroline Espil-Taris ² Cyril Goizet ⁷ Marie Husson ² Fanny Morice-Picard Annachiara de Sandre-Giovannoli ^{8, 9} Jean-Michel Pedespan ²

1 U1211 INSERM/MRGM - Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux)

2 Service de neurologie pédiatrique [CHU de Bordeaux]

3 CIC Bordeaux

4 CEREVANCE - Centre de Référence National des Cytopénies Auto-immunes de l'Enfant

5 Service de Génétique Clinique [CHU Caen]

6 BIOTARGEN - Biologie, génétique et thérapies ostéoarticulaires et respiratoires

7 Service de génétique médicale

8 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

9 CRB TAC - Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM]

Département de génétique médicale [Hôpital de la Timone - APHM], APHM - Assistance Publique - Hôpitaux de Marseille, TIMONE - Hôpital de la Timone [CHU - APHM]

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.

Keywords : cutis laxa ALDH18A1 neurological findings vascular tortuosity

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics / Human genetics

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https://hal-normandie-univ.archives-ouvertes.fr/hal-02875148
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Submitted on : Friday, June 19, 2020 - 2:37:49 PM
Last modification on : Wednesday, October 14, 2020 - 4:06:55 AM

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

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

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