DIAGNOSTICAL DIFFICULTIES IN A MYOPATHY CASE DUE TO A LIPID DISORDER

ABSTRACT: 

Carnitine deficiency could be a cause of lypid storage myopathy. The deffect could be located at different levels: either there is a primary or secondary carnitine deficiency, or a defect of the enzimes responsable for fatty acids transportation inside mytocondria.

Patient D.F, 13 years old, was admitted for episodes of loose or diminished muscle strenght, with predominant proximal distribution, provoked by mild but prolonged physical effort. During episodes, elevated muscle enzimes and myogen type EMG where proved. Between episodes, there was normal clinical neurologic examination and normal enzimes and EMG. There were no systemic sympyomes or myoglobinuria.

Muscle biopsy revealed lipidic accumulation and detailed analysis showed red ragged fibers and mitochondrial abnormalities.

Considering clinical and paraclinical findings, the most probable diagnosis is lypid storage miopathy, secondary to a mitochondrial deffect, with carnitine deficiency.