Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Adult mitochondrial DNA depletion syndrome with mild manifestations. 2388 12

Neuromyelitis optica spectrum disorder (NMOSD) has a wide disease spectrum and sometimes shows abnormal eye movement with brainstem manifestations. However, bilateral oculomotor nerve palsy with a midbrain lesion has never been reported in a patient with NMOSD. We describe a 61-year-old woman with progressive ptosis and diplopia. She displayed bilateral oculomotor nerve palsy and hypersomnia. Brain MRI demonstrated abnormal signal intensities in the midbrain and around the third ventricle and hypothalamus with a mild contrast enhancement. A cerebrospinal fluid study indicated elevated protein and pleocytosis. Because serum anti-aquaporin-4 IgG antibody was positive, the patient was diagnosed with neuromyelitis optica spectrum disorder with aquaporin-4 IgG. We report for the first time bilateral oculomotor nerve palsy as an initial manifestation in a patient with aquaporin-4 positive NMOSD.
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PMID:Bilateral oculomotor nerve palsy in a case of anti-aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder. 3117 6