1.Inclusion Body Myositis: A case report.
Hyeon Il OH ; Yeo Jyne YOO ; Si Hyun AHN ; Sung Koo CHANG
Journal of the Korean Academy of Rehabilitation Medicine 2000;24(6):1229-1234
In 1971 inclusion body myositis was reported by Yunis and Samaha. This disease is similar with chronic multiple myositis clinically. Pathologically, inclusion body myositis is characterized by intracytoplasmic vacuole with degenerating fibers and accompanied with inclusion body in internal nucleus and cytoplasm. Since then 240 cases of inclusion body myositis have been reported in the world including 3 cases in Korea. A 27 years-old lady had inclusion body myositis, which show slowly progressive muscular weakness. We confirmed this with clinical symptom, muscle biopsy, and electrophysiologic study. We report the typical manifestation of inclusion body myositis in a 27 years-old lady with the brief review of literature.
Adult
;
Biopsy
;
Cytoplasm
;
Humans
;
Inclusion Bodies*
;
Korea
;
Muscle Weakness
;
Myositis, Inclusion Body*
;
Polymyositis
;
Vacuoles
2.Gillespie Syndrome with Partial Aniridia, Cerebellar Ataxia, Delayed Development: A case report.
Sung Koo CHANG ; Hyeon Il OH ; Yeo Jyne YOO ; Si Hyun AHN ; Ik Hwan JANG
Journal of the Korean Academy of Rehabilitation Medicine 1999;23(1):181-185
In 1965 Gillespie reported a new syndrome of bilateral aniridia, cerebellar ataxia, and oligophrenia (mental retardation). This new syndrome was named Gillespie syndrome. Since then only 17 cases of Gillespie syndrome have been reported in UK, Brazil, Ireland, Belgium, Australia, and US. A case of Gillespie syndrome was not reported in Korea. A 4 year-old girl has triad of Gillespie syndrome, which are partial aniridia, cerebellar ataxia and mental retardation. We confirmed this with ophthalmologic examination, brain MRI, and developmental delay. We report the typical manifestation of Gillespie syndrome in a 4 year-old girl with the brief review of literature.
Aniridia*
;
Australia
;
Belgium
;
Brain
;
Brazil
;
Cerebellar Ataxia*
;
Child, Preschool
;
Female
;
Humans
;
Intellectual Disability
;
Ireland
;
Korea
;
Magnetic Resonance Imaging