Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.

Cataract / congenital Consanguinity Hereditary Central Nervous System Demyelinating Diseases / diagnostic imaging Humans Pedigree

Journal

Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187

Informations de publication

Date de publication:
08 2021
Historique:
pubmed: 1 7 2021
medline: 7 4 2022
entrez: 30 6 2021
Statut: ppublish

Résumé

Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the

Identifiants

DOI: 10.1055/s-0041-1728654 PMID: 34192786
pubmed: 34192786
doi: 10.1055/s-0041-1728654
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

302-309

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

None declared.

Auteurs

Ichraf Kraoua (I)

LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.

Yosra Bouyacoub (Y)

LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Cyrine Drissi (C)

Department of Neuroradiology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.

Mariem Chargui (M)

LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Ibtihel Rebai (I)

LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.

Ahmed Chebil (A)

Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Hédia Klaa (H)

LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.

Hanene Benrhouma (H)

LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.

Aida Hassen (A)

LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.

Neziha Gouider-Khouja (N)

LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.

Sonia Abdelhak (S)

LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Odile Boespflug-Tanguy (O)

Université de Paris, NeuroDiderot, UMR 1141, INSERM, Neuropédiatrie, LEUKOFRANCE, APHP, Hôpital Robert Debré, France.

Ilhem Ben Youssef-Turki (IB)

LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.

Imen Dorboz (I)

Université de Paris, NeuroDiderot, UMR 1141, INSERM, Neuropédiatrie, LEUKOFRANCE, APHP, Hôpital Robert Debré, France.

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Classifications MeSH

questionsmedicales.fr › Maladies de l'oeil › Maladies du cristallin › Cataracte › Hypomyelination and Congenital Cataract:...
questionsmedicales.fr › Phénomènes génétiques › Consanguinité › Hypomyelination and Congenital Cataract:...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › Maladies démyélinisantes héréditaires du système nerveux central › Hypomyelination and Congenital Cataract:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Hypomyelination and Congenital Cataract:...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Hypomyelination and Congenital Cataract:...