Mitochondrial dysfunction manifests in many forms during childhood. There is no effective
therapy for the condition; hence symptomatic
therapy is the only option. The effect of symptomatic
therapy are not well known. We present
clinical course, diagnosis and effect of current treatments for six children suffering from
mitochondrial encephalomyopathy identified by clinical demonstrations, brain MRI findings and
DNA mutations. Two were male and four were female. Their age ranged between 2 and 17 years. Skeletal muscle biopsies were obtained in three and one showed misshaped and enlarged mitochondria under electron microscope.
mtDNA mutation frequency was >30%. Five children were diagnosed with
MELAS (
mitochondrial encephalopathy,
lactic acidosis, and strokelike episodes) and one with Leigh's syndrome (LS). All were given cocktail and symptomatic treatments. One of the five
MELAS children died from severe complications. The other four
MELAS children remain alive; four showed improvement, and one remained unresponsive. Of the four who showed improvement, two do not have any abnormal signs and the other two have some degree of motor developmental delay and myotrophy. The LS child is doing well except for
ataxia. Until better
therapy such as mitochondrial gene
therapy is available, cocktail and symptomatic treatments could at least stabilize these children.