Infantile Olivopontocerebellar Atrophy
Olivopontocerebellar Atrophy
ISBN 0-9621181-1-7
$19.95 (US)
(40 Pages of Text + 14 Figures including color)
 This monograph clearly illustrates the limitations associated with the genetic screening and diagnosis of this rare and often fatal disease in infants. The report elaborates the subtle differences in clinical presentation and genetic screening for Werdnig-Hoffman Disease vis a vis Olivopontocerebellar Atrophy. The case example provides evidence sufficient to caution geneticists not to confuse the two syndromes when rendering genetic counselling to families.
To facilitate the differentiation and diagnosis of these inherited diseases, the report includes 7 authentic magnetic resonance images of an infant afflicted with OPCA, along with 7 histologically stained color muscle biopsy tissue specimens revealing spinal muscular atrophy.
CONTENTS
I. Patient History
A. Patient Workup
1. Physical Examination
2. Urine Analysis
3. Blood Analysis
a. Cerebrospinal Fluid Analysis
4. Bacteriology
5. Plasma Very Long Chain Fatty Acids
6. Magnetic Resonance Imaging
7. Electroencephalogram
8. Barium Swallowing
9. Gastroesophageal Reflux
B. Gastrostomy and Nissen Fundoplication
C. Muscle Biopsy Results
1. Electron Microscopy
2. Muscle Biopsy: Histology and Histochemistry
a. Hematoxylin and Eosin
b. Adenosine Triphosphatase
c. Modified Gomori Trichrome
d. Oil Red O Stain
e. Cytochrome Oxidase
D. Genetic Screening for Werdnig-Hoffman Syndrome
1. Genetic Screening for Deletions 5q11-5q13 Region of SMA Gene
II. Future Options For Diagnosis and Treatment
A. Olivopontocerebellar Atrophy plus Spinal Muscular Atrophy
B. Aetiology of Olivopontocerebellar Atrophy
C. Other Potential Treatment Strategies
$19.95 (US)
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