Three Cases in Pediatric Neuroradiology: Athabascan Brainstem Dysgenesis Syndrome, Aicardi Goutières Syndrome, and Aplasia of the Parotid Glands

Higley, Meghan

dc.contributor.author	Higley, Meghan
dc.date.accessioned	2012-04-30T20:27:17Z
dc.date.available	2012-04-30T20:27:17Z
dc.date.issued	2012-04-30
dc.identifier.uri	http://hdl.handle.net/10150/221245
dc.description	A Thesis submitted to The University of Arizona College of Medicine - Phoenix in partial fulfillment of the requirements for the Degree of Doctor of Medicine.	en
dc.description.abstract	Summary: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and internal carotid arteries. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetrical involvement. We present imaging findings documenting complete absence of the internal carotid arteries bilaterally with bilateral Michel aplasia of the inner ear, which, to our knowledge, has not been previously reported. Based on the number of cases identified and birth rates within studied populations, we estimated the incidence of ABDS at 0.5-1:1000 live births on the White River Apache Reservation and 1:3000 live births in the Navajo population. If accurate, this suggests a carrier frequency similar to that for cystic fibrosis in Caucasian populations. ABDS may represent a significantly underrecognized disorder among Athabaskan Native Americans, raising questions of the possible benefit of genetic counseling for affected families. However, cultural considerations in this population bring into question the possible conflict between counseling based on gene theory and traditional beliefs.
dc.language.iso	en_US	en
dc.publisher	The University of Arizona.	en_US
dc.rights	Copyright © is held by the author. Digital access to this material is made possible by the College of Medicine - Phoenix, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.	en_US
dc.subject	Pediatric Neuroradiology	en
dc.subject.mesh	Pediatrics	en
dc.subject.mesh	Athabascan Brainstem Dysgenesis	en
dc.subject.mesh	Aicardi-Goutieres syndrome	en
dc.subject.mesh	Parotid Gland	en
dc.title	Three Cases in Pediatric Neuroradiology: Athabascan Brainstem Dysgenesis Syndrome, Aicardi Goutières Syndrome, and Aplasia of the Parotid Glands	en_US
dc.type	text; Electronic Thesis	en
dc.contributor.department	The University of Arizona College of Medicine - Phoenix	en
dc.description.collectioninformation	This item is part of the College of Medicine - Phoenix Scholarly Projects 2012 collection. For more information, contact the Phoenix Biomedical Campus Library at pbc-library@email.arizona.edu.	en_US
dc.contributor.mentor	Towbin, Richard	en
refterms.dateFOA	2018-06-14T04:44:36Z
html.description.abstract	Summary: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and internal carotid arteries. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetrical involvement. We present imaging findings documenting complete absence of the internal carotid arteries bilaterally with bilateral Michel aplasia of the inner ear, which, to our knowledge, has not been previously reported. Based on the number of cases identified and birth rates within studied populations, we estimated the incidence of ABDS at 0.5-1:1000 live births on the White River Apache Reservation and 1:3000 live births in the Navajo population. If accurate, this suggests a carrier frequency similar to that for cystic fibrosis in Caucasian populations. ABDS may represent a significantly underrecognized disorder among Athabaskan Native Americans, raising questions of the possible benefit of genetic counseling for affected families. However, cultural considerations in this population bring into question the possible conflict between counseling based on gene theory and traditional beliefs.