Mlasa syndrome: a case report
IJCN-Iranian Journal of Child Neurology. 2008; 2 (2): 47-50
em En
| IMEMR
| ID: emr-103183
Biblioteca responsável:
EMRO
ABSTRACT
Mitochondrial myopathy, lactic acidosis, and siderobiastic anemia [MLASA] syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. The association between myopathy and siderobiastic anemia was initially reported in 1974. Here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities, inability to walk and palor, Microcytic siderobiastic anemia, mild lactic acidosis and inflammatory myopathy [myositis] in muscle biopsy was detected and treated; the response to corticosteroid therapy and rehabilitation was excellent and the patient was ambulatory after four months
Buscar no Google
Índice:
IMEMR
Assunto principal:
Acidose Láctica
/
Miopatias Mitocondriais
/
Anemia Sideroblástica
/
Miosite
Tipo de estudo:
Case_reports
Limite:
Humans
/
Male
Idioma:
En
Revista:
Iran. J. Child Neurol.
Ano de publicação:
2008