Identifier |
walsh_1979_s6_c6 |
Title |
Icthyosis, Spastic Diplegia and Retinopathy |
Creator |
F. C. Chu |
Subject |
Cerebral Palsy; Ichthyosis; Retinal Degeneration; Renal Tubular Transport, Inborn Errors; Bartter Syndrome; Water-Electrolyte Imbalance; Hydrocephalus; Anisocoria; Blepharitis |
History |
A 5-year old female with dermatological and psychomotor abnormalities. Family history significant for a younger sibling with identical conditions. Parents were first cousins. |
Pathology |
Hypokalemia; Hypochloremia; Communicating hydrocephalus |
Disease/Diagnosis |
Bartter Syndrome |
Clinical |
Blepharitis; Anisocoria |
Presenting Symptom |
Dermatological and psychomotor abnormalities; Severe retardation |
Neuroimaging |
CT |
Treatment |
N/A |
References |
N/A |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
1979 Walsh Proceedings |
Relation is Part of |
Case presented at the NANOS 1979 Walsh Session, February 16-17 Contributor Primary |
Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
Rights Management |
Copyright 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6mk6gqf |
Contributor Primary |
Chu, F.C. |
Contributor Secondary |
Robison, W.G.; Kuwabara, T.; Cogan, D.G.; Change, C.; Barranger, J.A. |
Setname |
ehsl_novel_fbw |
ID |
178557 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6mk6gqf |