A muscle disorder as presenting symptom in a child with mucolipidosis IV.

摘要: Psychomotor retardation and hypotonia were found in a 1 1/2 year old girl with bilateral corneal opacities. Very high levels of enzymes muscular origin together abnormal electromyograms muscle biopsy lead at the time to diagnosis an unspecified disorder. Twelve years later mucolipidosis IV (ML IV) was diagnosed this child. She then very retarded, ocular neurologic deterioration evident enzyme still high. Only few patients affected ML have been reported all but one young; therefore it is important add observations on progression disease unusual clinical features like involvement.