Icthyosis, Spastic Diplegia and Retinopathy

Update Item Information
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
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