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Abstract Background Lyme borreliosis is the most prevalent arthropod-borne infection in the Northern Hemisphere. In Europe, Borrelia afzelii is predominantly involved in cutaneous manifestations, Borrelia garinii and Borrelia bavariensis in neurological manifestations, and Borrelia burgdorferi sensu stricto in articular ones. Liver impairement is not classical in Lyme borreliosis. Diagnosis is currently mainly based on serological testing, and is challenging in immunocompromised patients. Case presentation We report the first case of B. garinii infection revealed by liver involvement in an immunocompromised man. A 73-year-old man with marginal zone lymphoma, treated with bendamustine and rituximab, developed intermittent fever and inflammatory syndrome. Microbial investigations were all negative and FDG-PET showed complete remission of the lymphoma. Three months later, liver biopsy was performed and histology revealed spirochetes-like bacteria. Microbial diagnosis was performed by 16S rDNA sequencing, flagellin (flaB) gene sequencing and multi-locus sequence typing and identified B. garinii. The patient recovered successfully after a three weeks course of antibiotics. Diagnosis was challenging because Borrelia hepatic involvement is unusual and no erythema migrans nor tick bite were notified. Conclusion This case highlights that unexplained fever and inflammatory syndrome in immunocompromised patients warrants specific investigations to identify bacteria such as spirochetes.

Abstract Background IgD multiple myeloma (MM) is a rare subtype of MM and light chain deposition disease (LCDD) outside the kidney is also a rare and has scarcely been reported. We report herein the details of the first reported case of LCDD involving the kidney and liver co-occurring with IgD myeloma. Case presentation A 66-year-old female with IgD MM presented with rapidly progressive acute renal failure, ascites and pleural effusion. Immunofluorescent study of revealed the characteristic linear deposition of Igκ light chain along the glomerular and tubular basement membrane in kidney. Electron microscopy showed the powdery electron-dense deposits along the tubular and glomerular basement membrane consistent with the diagnosis of LCDD. Laser microdissection followed by mass spectrometry identified only Igκ light chain with more than 95% probability confirm the diagnosis of κ-LCDD but not heavy/light chain deposition disease. Liver biopsy with immunofluorescence study revealed the linear deposition of Igκ chain along the perisinusoidal space indicating the hepatic involvement of κ-LCDD. The patient was successfully treated with combination therapy with bortezomib, cyclophosphamide, dexamethasone, and daratumumab. Conclusions This report emphasizes that prompt biopsy of affected organs and initiation of clone directed therapy led to the correct diagnosis and favorable outcome in patient with LCDD who has extrarenal involvement.

Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. Methods Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. Results Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. Conclusions These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.

Abstract Background Actinomycosis is a rare chronic invasive disease caused by Actinomyces spp. Although abdominopelvic actinomycosis, which involves the colon and the pelvic organs extensively, has been frequently reported, abdominopelvic actinomycosis presenting with colon perforation and hepatic involvement concurrently has yet to be reported. Case presentation A 55-year-old woman presented at the emergency room with squeezing epigastric pain. Palpation of the abdomen revealed a hard mass with no acute peritoneal signs. Vital signs were normal range except for tachycardia. Initial laboratory testing revealed leukocytosis, anemia, elevated C-reactive protein (CRP), hypoalbuminemia; and normal AST/ALT and BUN/creatinine. CT scan of the abdomen-pelvis revealed a microperforations of the sigmoid colon, abscess in the left lower quadrant and hepatic lesion. Furthermore, there was a large infiltrating conglomerated mass invading the urinary bladder, left adnexa, sigmoid, left inguinal canal and left pelvic wall area. Ultrasound revealed an intra-uterine device (IUD). All these findings initially raised a suspicion of malignancy such as advanced cancer of the colon with liver metastasis. Despite the rarity of the disease, actinomycosis were not excluded because of the IUD found on ultrasound. Parenteral antibiotics and percutaneous drainage of abdomen abscess as well as fasting with total parental nutrition were prescribed for sigmoid perforation and abscess. After 10 days of conservative treatment, no remarkable change was detected in conglomerated mass invading pelvis. Furthermore, the finding of newly developed mechanical small bowel obstruction warranted surgery. Exploratory laparotomy was performed for the removal of perforated colon, obstructive small bowel and organs involved and postoperative histology confirmed a diagnosis of colonic actinomycosis. The patient made an uneventful recovery and was started on a 6-month course of penicillin. Conclusions Abdominopelvic actinomycosis presenting with colon perforation and hepatic involvement is extremely rare; however, it is clinically similar to advanced colon cancer with liver metastasis, therefore, complicating the preoperative diagnosis. A diagnosis of abdominopelvic actinomycosis should be considered in patients with a history of IUD and chronic abdominal pain, along with an abdominal mass or cutaneous abscess. If surgery is indicated, preoperative empirical antibiotic therapy for actinomycosis and frozen biopsy during surgery may be considered.

Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. Case presentation In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan’s anomaly, are detectable in their leucocytes. Conclusions To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.