Abstract | INTRODUCTION: CASE REPORT: Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. CONCLUSIONS:
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Authors | F J Rodríguez-Gómez, J M López-Domínguez, J J Borrero-Martín, E Rodríguez-Gómez, I Chinchón-Lara, E Pujol-De la Llave |
Journal | Revista de neurologia
(Rev Neurol)
2005 Feb 1-15
Vol. 40
Issue 3
Pg. 156-8
ISSN: 0210-0010 [Print] Spain |
Vernacular Title | Cistinosis: una causa infrecuente de miopatía distal. |
PMID | 15750900
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Adult
- Child, Preschool
- Cysteamine
(therapeutic use)
- Cystine
(metabolism)
- Cystinosis
(complications, diagnosis, genetics, pathology, therapy)
- Distal Myopathies
(classification, diagnosis, etiology, pathology)
- Fatal Outcome
- Humans
- Kidney Diseases
(etiology)
- Kidney Transplantation
- Male
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