Abstract
Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, nonspecific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were noninformative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Realtime polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered.
Highlights
(MDS) is usually a severe disorder of infancy 4 non-triggered attacks per month
Since 08 she was taking the pill for endometriosis
During thyroid resection in 3/11, a muscle biopsy from the sternocleidomastoid muscle was taken revealing mild to moderate variation in fiber size (Figure 1A), predominance of type 2 fibers, single fibers with eosinophilic cytoplasmic bodies (Figure 1B), and single lobulated fibers exhibiting moderate with hypersomnia, severe tiredness, exercise restless-leg syndrome, tinnitus, endometriosis, subsarcolemmal accentuation of SDH (Figure intolerance, and a family history positive for easy fatigability)], and sudden cardiac death 1C), and NADH (Figure 1D) activity
Summary
(MDS) is usually a severe disorder of infancy 4 non-triggered attacks per month. In 2/99 she ©Copyright J. A 47-year-old n Caucasian female with short stature and a hiso tory of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, e and a family history positive for mitochondrial disorder (2 sisters, aunt, niece), developed s day-time sleepiness, exercise intolerance, and u myalgias in the lower-limb muscles since age l 46y.
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