Goldenhar syndrome and medulloblastoma: A coincidental association? The first case report

Abstract Background Features of Goldenhar syndrome include several craniofacial anomalies of structures derived from the first and second pharyngeal arches, as well as vertebral, cardiac and renal systems abnormalities. In addition, Goldenhar patients were reported to manifest a variety of central n...

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Bibliographic Details
Published in:Journal of cranio-maxillo-facial surgery 2014-07, Vol.42 (5), p.e91-e96
Main Authors: Aizenbud, Dror, Shoham, Natasha V, Constantini, Shlomi, Nevo, Neta, Ben Arush, Myriam, Raz, Michal, Rachmiel, Adi, Goldsher, Dorit
Format: Article
Language:English
Subjects:
Cerebellar Neoplasms - diagnosis
Cerebellar Neoplasms - genetics
Chromosomes, Human, Pair 17 - genetics
Dentistry
Female
Follow-Up Studies
Fourth Ventricle - pathology
Goldenhar syndrome
Goldenhar Syndrome - diagnosis
Goldenhar Syndrome - genetics
Humans
Hydrocephalus - etiology
Infant, Newborn
Isochromosomes - genetics
Loss of Heterozygosity - genetics
Medulloblastoma
Medulloblastoma - diagnosis
Medulloblastoma - genetics
Neurocristopathies
Radiation exposure
Surgery
Trauma
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Summary:Abstract Background Features of Goldenhar syndrome include several craniofacial anomalies of structures derived from the first and second pharyngeal arches, as well as vertebral, cardiac and renal systems abnormalities. In addition, Goldenhar patients were reported to manifest a variety of central nervous system anomalies and several types of neoplasias. Case history and discussion The first case of medulloblastoma in a patient with Goldenhar syndrome is presented here. There is no clear association between these two pathologies. We speculate that aberrant events during the migration of neural crest cells in early stages of development could be the basis of an association between medulloblastoma and Goldenhar syndrome. The case history suggests other possible etiological contributing factors to the development of medulloblastoma, such as patient's history of trauma and/or early childhood exposure to ionizing radiation.
ISSN:1010-5182
1878-4119
DOI:10.1016/j.jcms.2013.07.003