| Identifier |
walsh_2013_s3_c4-2 |
| Title |
Clues Hidden in the Skin |
| Creator |
Janet C. Rucker, Catherine Cho, James Weisfeld-Adams, Scott E. Brodie |
| Subject |
Chediak-Higashi Syndrome; Optic Neuropathy; Parkinsonism; Spinocerebellar degeneration |
| History |
She underwent neurological evaluation at age 32 (neuroimaging, serologies, lumbar puncture, muscle biopsy) with no resultant diagnosis (records unavailable). She required a wheelchair by age 36 and gradually developed slurred speech, cognitive decline, and worsened motor function. Simultaneous with neurologic evaluation, she was undergoing dermatologic evaluation for generalized hyperpigmentation with hypopigmented macules. |
| Pathology |
Skin biopsy showed lymphocyte intracellular inclusions and amyloid deposition. Lymphocyte panel revealed low natural killer cell activity. Light microscopy of hair shaft showed pigmentary clumping. Normal labs included CK, cryoglobulins, HTLV-1 and 2, SCA 1-3 and 6, OPA-1. VEP was extinguished (age 43). Genetic testing diagnosed Chediak-Higashi Syndrome (CHS). |
| Disease/Diagnosis |
Chediak-Higashi Syndrome (with an adult-onset neurodegenerative phenotype). |
| Clinical |
Neurological examination revealed pseudobulbar affect, perseveration, hypophonia, dysarthric speech, proximal greater than distal and leg greater than arm weakness, decreased vibratory and pinprick sensation in legs, hypereflexia with upgoing toes, frontal lobe reflexes, upper extremity dysmetria, and hypotonia. Acuity was 20/25 OD and 20/30 OS. Color vision (Ishihara) was control only OD and 2/14 OS. Contrast sensitivity (Peli-Robson) was reduced (line 4OD, 5 OS). There was no APD. Optic discs were mildly pale temporally. Goldmann field revealed complete central vision loss to small isopters. Ocular motor exam was normal except for hypermetric saccades. |
| Presenting Symptom |
A 40-year old woman, neurologically normal until age 31, presented with progressive paraparesis over several years. |
| Neuroimaging |
MRI; EMG |
| Date |
2013-02-10 |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
45th Annual Frank Walsh Society Meeting |
| Relation is Part of |
Case presented at the NANOS 2013 Walsh Session, February 10 |
| 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 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6836pmn |
| Contributor Primary |
Bhatti, M Tariq |
| Contributor Secondary |
Thurtell, Matthew J |
| Setname |
ehsl_novel_fbw |
| ID |
179242 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6836pmn |
