| Identifier |
walsh_1979_s6_c6 |
| Title |
Icthyosis, Spastic Diplegia and Retinopathy |
| Creator |
F. C. Chu, MD; W. G. Robison, MD; T. Kuwabara, MD; D. G. Cogan, MD |
| Affiliation |
(FCC) (WGR) (TK) (DGC) National Eye Institute, NIH, Bethesda, MD |
| 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 |
| Date |
1979 |
| References |
N/A |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
1979 Walsh Proceedings |
| Relation is Part of |
1979 Walsh Session, February 16-17 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| 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 |
| Setname |
ehsl_novel_fbw |
| ID |
178557 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6mk6gqf |
