Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.

Autor: Varon A; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida., Whitt Z; Medical College of Georgia, Augusta University, Augusta, Georgia., Kalika PM; Department of Neurology, Miller School of Medicine, University of Miami, Miami, Florida., Potocki L; Department of Molecular and Human Genetics Baylor College of Medicine, Texas Children's Hospital, Houston, Texas., Barbouth DS; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida., Walz K; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.; John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1366-1370. Date of Electronic Publication: 2019 May 08.
DOI: 10.1002/ajmg.a.61187
Abstrakt: Potocki-Lupski syndrome (PTLS) is a genetic disorder that results from an interstitial duplication within chromosome 17p11.2. Children with PTLS typically present with infantile hypotonia, failure to thrive, and global developmental delay with or without major organ system involvement. Systematic clinical studies regarding growth, cardiovascular disease, and neurocognitive profiles have been published; however, systematic evaluation of central nervous system structure by magnetic resonance imaging (MRI) of the brain has not been reported. Herein, we describe three patients with PTLS who were found-in the course of routine clinical care-to have a type 1 Arnold-Chiari malformation (CM-1). This finding raises the question of whether the incidence of CM-1 is increased in PTLS, and hence, if an MRI of the brain should be considered in the evaluation of all patients with this chromosomal duplication syndrome.
(© 2019 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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