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

Persistent Link:
http://hdl.handle.net/10150/221245
Title:
Three Cases in Pediatric Neuroradiology: Athabascan Brainstem Dysgenesis Syndrome, Aicardi Goutières Syndrome, and Aplasia of the Parotid Glands
Author:
Higley, Meghan
Affiliation:
The University of Arizona College of Medicine - Phoenix
Issue Date:
30-Apr-2012
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.
Collection Information:
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.
Publisher:
The University of Arizona.
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.
Keywords:
Pediatric Neuroradiology
MeSH Subjects:
Pediatrics; Athabascan Brainstem Dysgenesis; Aicardi-Goutieres syndrome; Parotid Gland
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.
Mentor:
Towbin, Richard, MD

Full metadata record

DC FieldValue Language
dc.language.isoen_USen_US
dc.titleThree Cases in Pediatric Neuroradiology: Athabascan Brainstem Dysgenesis Syndrome, Aicardi Goutières Syndrome, and Aplasia of the Parotid Glandsen_US
dc.contributor.authorHigley, Meghanen_US
dc.contributor.departmentThe University of Arizona College of Medicine - Phoenixen_US
dc.date.issued2012-04-30-
dc.rightsCopyright © 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.description.collectioninformationThis 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.publisherThe University of Arizona.en_US
dc.description.abstractSummary: 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.typeThesisen_US
dc.subjectPediatric Neuroradiologyen_US
dc.subject.meshPediatricsen_US
dc.subject.meshAthabascan Brainstem Dysgenesisen_US
dc.subject.meshAicardi-Goutieres syndromeen_US
dc.subject.meshParotid Glanden_US
dc.descriptionA 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_US
dc.contributor.mentorTowbin, Richard, MDen_US
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