retinitis pigmentosa/dijareja

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[An adult case of probable Bassen-Kornzweig syndrome, presenting resting tremor].

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We report a 53-year-old woman with probable Bassen-Kornzweig syndrome. Her parents were a consanguineous marriage. At two years of age, she developed night blindness. During her childhood she had severe diarrhea that disappeared in adulthood. At 26 years of age, she was diagnosed as having retinitis

[Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report].

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We report a 56-year old female with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), presenting with protein-losing gastroenteropathy and serum copper deficiency. There was no neuromuscular disease in her family members. Three years prior to admission, she developed severe

Potassium iodate retinopathy.

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A case of potassium iodate toxicity in a 22-year-old man was reported. After taking a solution of highly concentrated potassium iodate, the patient developed nausea, vomiting, diarrhea and blurred vision. The visual acuity was hand motion in both eyes. The funduscopic examination showed retinal

Abetalipoproteinemia: a case report.

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Abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa. Here we peresent a six-month-old patient with abetaliporoteinemia. He had a history of chronic diarrhea from the first month of life. He was cachectic

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