| Identifier |
walsh_2013_s3_c4-1 |
| Title |
Clues Hidden in the Skin |
| Creator |
Janet C. Rucker; Catherine Cho; James Weisfeld-Adams; Scott Brodie |
| Affiliation |
(JCR) (CC) Mount Sinai/Neurology, New York, NY; (JCR) (SB) Mount Sinai/Ophthalmology, New York, NY; (JW) Mount Sinai/Genetics, New York, NY |
| 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 |
| References |
1. Maeda K, Sueishi K, Fukai K, et al. A case report of Chediak-Higashi syndrome complicated with systemic amyloidosis and olivocerebellar degeneration. Path Res Pract 1989;185:231-237. 2. Nagle DL, Karim MA. Woolf EA, et al. Identification and mutation analysis of the complete gene for Cheidak-Higashi syndrome. Nat Genet 1996;14:307-311. 3. Rudelius M, Osanger A, Kohlmann S, et al. A missense mutation in the WD40 domain of murine Lyst kinked to severe progressive Purkinje cell degeneration. Acta Neuropathol 2006;112:267-276. 4. Sheramata W, Kott SK, Cr DP. The Chediak-Higashi-Steinbrinck syndrome: presentation of three cases with features resembling spinocerebellar degeneration. Arch Neurol 1974;25:289-294. 5. Tardieu M, Lacroix C, Neven B, et al. Progressive neurologic dysfunction 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood 2005;106:40-42. |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
Microsoft PowerPoint |
| Type |
Text |
| Source |
45th Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2013 |
| 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 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s62v5cp5 |
| Setname |
ehsl_novel_fbw |
| ID |
179166 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s62v5cp5 |
