Article
New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich's ataxia with cardiopathy.
Clinical neuropathology - 1 Jan 2000
Jellinger K, Paulus W, Grisold W, Paschke E
Abstract excerpt
Clinical, ultrastructural and biochemical studies are reported in a 42-year-old woman presenting with congenital pes cavus who, at the age of 23 years, developed slowly progressive distal amyotrophies, hypesthesia, bilateral hearing loss and severe cardiopathy leading to death. There were skeletal anomalies, mild reduction of motor NCVs, but no corneal opacity, retinitis pigmentosa, organomegaly or vacuolated...
Topics
- Adult
- Diagnosis, Differential
- Female
- Friedreich Ataxia
- Humans
- Lysosomes
- Microscopy, Electron
- Mucopolysaccharidoses
- Nervous System
- Phenotype