Abstract：
INTRODUCTION:Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. 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:Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Rodríguez-Gómez FJ,López-Domínguez JM,Borrero-Martín JJ,Rodríguez-Gómez E,Chinchón-Lara I,Pujol-De la Llave Esubject
Has Abstractpub_date
2005-02-01 00:00:00pages
156-8issue
3eissn
0210-0010issn
1576-6578pii
rn2004357journal_volume
40pub_type
杂志文章abstract：INTRODUCTION:Attention disorders are a major problem after traumatic brain injury underlying deficits in other cognitive functions and in everyday activities, hindering the rehabilitation process and the possibility of return to work. Functional neuroimaging and neuropsychological assessment have depicted theoretical m...
journal_title：Revista de neurologia
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pub_type： 信件
doi：10.33588/rn.7011.2019333
更新日期：2020-06-01 00:00:00
