Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report

<p>Abstract</p> <p>Introduction</p> <p>Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.</p> <p>Case presentation</p> <p>We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood in whom Refsum disease was subsequently diagnosed midlife, after routine enquiry into hand and feet abnormalities. Subsequent treatment through dietary modification stabilised visual impairment and has prevented development of neurological complications to date.</p> <p>Conclusion</p> <p>It is therefore important to consider the diagnosis of Refsum disease in any patient with autosomal recessive or simplex retinitis pigmentosa, and to enquire about the presence of "unusual" feet or hands in such patients.</p

MULTINUCLEAR MAGNETIC RESONANCE AND MUTAGENESIS STUDIES OF STRUCTURE-FUNCTION RELATIONSHIPS IN [2FE-2S] FERREDOXINS

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Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity

A boy with delayed psychomotor development, attention deficit disorder, and therapy-resistant epilepsy was treated with valproate. The patient died of liver failure after 4 months of valproate treatment. Postmortem investigation of cultured fibroblasts suggested medium chain acyl-CoA dehydrogenase deficiency, an unexpected finding since the boy had not presented typical manifestations of this disease. Because medium chain acyl-CoA dehydrogenase is an important enzyme in the beta-oxidation of fatty acids, our patient probably had a genetically reduced tolerance to valproate. This drug should be omitted in the treatment of seizures in patients with possible medium chain acyl-CoA dehydrogenase deficiency. (C) 1997 by Elsevier Science Inc

CONFOCAL SCANNING LASER MICROSCOPY OF MITOCHONDRIA - A POSSIBLE TOOL IN THE DIAGNOSIS OF MITOCHONDRIAL DISORDERS

This paper describes a non-invasive method for the study of mitochondrial morphology in cultured human skin fibroblasts by confocal scanning laser microscopy after staining the mitochondria with 2-[4-(dimethyl-aminostyryl]-1-methylpyridinium iodide. This method is applied to compare mitochondria in fibroblasts from healthy individuals and from patients with mitochondrial myopathy. In most cases there is a striking swelling of the patient's mitochondria and a loss of fine structure. The results with respect to the potential of this method as a diagnostic tool are discussed