A Child with Aminoaciduria and Retinal Degeneration

Update item information
Identifier 19870203_nanos_sciplatform3_03
Title A Child with Aminoaciduria and Retinal Degeneration
Creator Gross,Steven A; Behrens, Myles M; Devivo, Daryll C
Subject Aminoaciduria; Retinal Degeneration; Metabolic Acidosis; Bilateral Optic Disc Pallor
Description A 19 month old boy was seen at CPMC for seizure control. Born FTNSVD following an uneventful gestation, he was lethargic and fed poorly after birth. He returned to the hospital after a few weeks with vomiting, diarrhea, weight loss, and dehydration. Metabolic acidosis and aminoaciduria were found. He developed poor visual function at 2-3 months of age, infantile spasms at 7 months and generalized convulsions at 8-9 months.
Relation is Part of NANOS 1987: Scientific Platform Presentations (Session 3)
Contributor Primary Shults, William T
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Type Text
Format application/pdf
Format Creation application/pdf
Source 1987 North American Neuro-Ophthalmology Society Annual Meeting
Rights Management Copyright 1987. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s62j9jhd
Setname ehsl_novel_nam
Date Created 2014-02-26
Date Modified 2014-02-26
ID 183496
Reference URL https://collections.lib.utah.edu/ark:/87278/s62j9jhd
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