Premium
Two new Brazilian patients with Gómez–López‐Hernández syndrome: Reviewing the expanded phenotype with molecular insights
Author(s) -
Gomy Israel,
Heck Benjamin,
Santos Antônio Carlos,
Figueiredo Maria Silvia L.,
Martinelli Carlos E.,
Nogueira Maria Priscila C.,
PinaNeto João M.
Publication year - 2008
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.32173
Subject(s) - etiology , medicine , phenotype , hypopituitarism , hypomania , pathogenesis , dysplasia , pediatrics , magnetic resonance imaging , short stature , pathology , genetics , gene , bipolar disorder , biology , radiology , mania , lithium (medication)
Gómez–López‐Hernández (GLH) syndrome or cerebello‐trigeminal dysplasia is a neurocutaneous syndrome whose etiology is unknown at the present time. We report two additional Brazilian patients, including the oldest one known to date (age 29). Here, we review the expanded phenotype in four patients with new clinical, psychiatric, radiological, and molecular investigations. One patient may have hypomania within the bipolar spectrum disorder with onset in childhood and adolescence. Primary growth hormone (GH) deficiency was ruled out in all patients, although one of them might have developed secondary GH deficiency due to partial hypopituitarism following severe hydrocephalus. Brain magnetic resonance angiography disclosed no azygous anterior cerebral artery (ACA) but only normal variants. Molecular analysis of the lysosomal acid phosphatase gene ( ACP2 ) was performed, but no pathogenic mutations were identified. We present an overview of the phenotypic features of all patients described to date. There are currently 12 unrelated patients reported in the literature, 5 of whom are Brazilian. We discuss new molecular insights and speculate about the pathogenesis of GLH syndrome. © 2008 Wiley‐Liss, Inc.