Premium
Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome
Author(s) -
Varon Alberto,
Whitt Zachary,
Kalika Paige M.,
Potocki Lorraine,
Barbouth Deborah S.,
Walz Katherina
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61187
Subject(s) - hypotonia , medicine , genetic disorder , gene duplication , magnetic resonance imaging , etiology , failure to thrive , dup , pediatrics , neurodevelopmental disorder , neurocognitive , pathology , disease , radiology , genetics , biology , psychiatry , cognition , gene , autism
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.