Horner's Syndrome (ptosis, anisocoria, and anhydrosis) developed in a 22-year-old woman. A mediastinal mass was noted on chest x-ray. Further evaluation led to a diagnosis of Hodgkin's disease, nodular sclerosis type. Horner's syndrome is an unusual initial manifestation of Hodgkin's disease, and, i
Polyglucosan body disease myopathy: An unusual presentation
β Scribed by Steve Vucic; Roger Pamphlett; Edward J. Wills; Con Yiannikas
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 225 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract A nonβJewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without __GBE__ mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demo
## Abstract A 26βyearβold man developed an unusual repetitive, nonproductive cough. Extensive pulmonary and otolaryngology investigations failed to disclose a cause. It was only after he developed additional neurological manifestations ultimately leading to the diagnosis of Wilson's disease (WD) th