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Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive multisystem disorder caused by mutations in the thymidine phosphorylase gene (TP).1 The disease is characterized by onset between the first and fifth decades of life, ptosis, progressive external ophthalmoparesis, peripheral neuropathy, and leukoencephalopathy.1,2⇓ Gastrointestinal (GI) involvement is a major hallmark of the disease, and all reported patients have GI dysmotility.2-4⇓⇓
Case report.
We report a 60-year-old woman born after a normal pregnancy. She had bilateral ptosis since childhood and tremor affecting hands and head since age 2 years. She was 145 cm tall and weighed 41 kg at age 60 years. Neurologic examination at age 60 years showed bilateral ptosis with bilateral external ophthalmoplegia. Optic fundi were normal without retinitis. Strength was normal, but she had areflexia. She also had action and rest tremor. Her maternal grandfather and her daughter had tremor. Echocardiography revealed a mild thickening in the septum heart muscle. She had no GI symptoms. A radionuclide gastric emptying test showed mild gastroparesis. Laboratory data showed elevated venous lactate at rest (4.1 mmol/L; normal, 0.9 to 2.7). Brain MRI revealed diffuse hyperintense signal affecting the white matter of the cerebral hemispheres, midbrain, and pons. Abundant cytochrome c oxidase (COX)-negative ragged-red fibers and lipid droplets were found in biceps muscle biopsy (figure). The patient’s sister had short stature, and the patient’s …
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