Chanarin-Dorfman syndrome (CDS) is an extremely rare, multisystemic, autosomal recessive, neutral lipid storage disease (NLSD). It was first observed by Jordan in 1953, who identified lipid vacuoles in the cytoplasm of leukocytes from the peripheral blood smear of 2 brothers who suffered from progressive muscular dystrophy. 1 Two decades later, Dorfman in 1974 and Chanarin in 1975 reported for the first time a neutral lipid storage disease characterized by lipid accumulation in the peripheral blood leukocytes, bone marrow granulocyte precursors, liver cells and many other cells in the body. 2,3 To date, approximately 120 cases of CDS have been reported around the world. The syndrome is caused by the mutation of the abhydrolase domain containing 5 (ABHD5) gene, also called the comparative gene identification-58 (CGI-58) gene, located on the 3p21 chromosome. The product of this gene is a member of the large α/β-hydrolase family of proteins with 349 amino acids and a molecular mass of approximately 39 kD that enables the activation of adipose triglyceride lipase (ATGL) which plays and important role in intracellular lipolysis. Mutation of the ABHD5 gene results in the total or partial inactivation of the ATGL enzyme that enables the release of fatty acids (FAs) from the intracellular triacylglycerol (TG) stores of adipose and nonadiposetissues. This leads to insufficient FA mobilization within the cell, which in turn causes the accumulation of intracytoplasmic lipid droplets that contain TG. 4,5 These lipid droplets have been observed in hepatocytes, intestinal mucosa, blood, bone marrow, skin fibroblasts, myocytes, central nervous system cells and many other types of cells. CDS is associated with a multitude of clinical symptoms, the most prominent of which are non-bullous congenital ichthyosiform erythroderma and liver steatosis, whereas others include splenomegaly, myopathy, sensorineural hearing loss, nystagmus, ataxia, cataract, mental retardation and growth retardation. These clinical symptoms tend to vary according to the patients' ethnic origin and the different mutations they have. The diagnosis is based on the presence of ichthyosis and identification of lipid droplets in granulocytes (Jordan's anomaly) in peripheral blood smear. 6,7

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Results of the current study have confirmed that KRAS mutations and SFRP2 hypermethylation can be used as genetic markers in colorectal cancer.

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF.