ABSTRACT
Maternally inherited deafness and diabetes (MIDD) is characterised by a defect in insulin secretion and bilateral hearing impairment. The m.3243A>G mutation is the most reported in mitochondrial DNA (mtDNA) causing MIDD, although other, rare, mtDNA point mutations have also been mentioned. We report on a 28-year-old Caucasian woman with a history of diabetes, kidney disease, deafness, diarrhoea, myopathy and fatigue. The diagnosis of mitochondrial disease was made in this patient, which resulted from a novel 09155A>G mutation in the mtDNA. As far as we know, this mutation has never been described before as causing MIDD.
Subject(s)
DNA, Mitochondrial/genetics , Deafness/diagnosis , Diabetes Mellitus, Type 2/diagnosis , Mitochondrial Diseases/diagnosis , Mutation , Adult , DNA Mutational Analysis , Deafness/complications , Deafness/genetics , Deafness/pathology , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/pathology , Female , Glomerulosclerosis, Focal Segmental/etiology , Glomerulosclerosis, Focal Segmental/pathology , Humans , Metabolic Syndrome/etiology , Microscopy, Electron , Mitochondria/ultrastructure , Mitochondrial Diseases/complications , Mitochondrial Diseases/genetics , Mitochondrial Diseases/pathology , Point Mutation , Proteinuria/etiologyABSTRACT
A 23-year-old black women with acute blurred vision of the right eye was referred for ophthalmological examination. Fundus examination and fluorescence angiography showed a non-ischaemic central retinal vein occlusion (papillophlebitis). The diagnosis of sarcoidosis, suggested by the presence of bilateral hilar and mediastinal lymphadenopathy, was confirmed by transbronchial biopsy of the lymphadenopathy demonstrating noncaseating granulomas. The eye problems were successfully treated with systemic corticosteroids. Central retinal vein occlusion is a rare complication of sarcoidosis.
