Mlasa syndrome: a case report
IJCN-Iranian Journal of Child Neurology. 2008; 2 (2): 47-50
em Inglês
| IMEMR
| ID: emr-103183
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
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Acidose Láctica
/
Miopatias Mitocondriais
/
Anemia Sideroblástica
/
Miosite
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Iran. J. Child Neurol.
Ano de publicação:
2008
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