Clues Hidden in the Skin

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Identifier walsh_2013_s3_c4-2
Title Clues Hidden in the Skin
Creator Rucker, Janet C; Cho, Catherine; Weisfeld-Adams, James; Brodie, Scott E
Subject Chediak-Higashi Syndrome; Optic Neuropathy; Parkinsonism; Spinocerebellar degeneration
Presenting Symptom A 40-year old woman, neurologically normal until age 31, presented with progressive paraparesis over several years.
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.
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.
Neuroimaging MRI; EMG
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).
Relation is Part of Case presented at the NANOS 2013 Walsh Session, February 10
Contributor Primary Bhatti, M Tariq
Contributor Secondary Thurtell, Matthew J
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2013-02-10
Type Image/MovingImage
Format video/mp4
Source 45th Annual Frank Walsh Society Meeting
Rights Management Copyright 2013. For further information regarding the rights to this collection, please visit:
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
Language eng
ARK ark:/87278/s6836pmn
Setname ehsl_novel_fbw
Date Created 2015-02-22
Date Modified 2021-05-06
ID 179242
Reference URL
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