Heterogeneity of Marinesco-Sjögren syndrome: report of two cases

Marinesco-Sj?gren syndrome is an autosomal recessive, multiorgan disorder with cardinal features of cerebellar ataxia, congenital or early childhood cataracts, psychomotor retardation, myopathy, and short stature. Mutations in the SIL1 gene on chromosome 5q31 were demonstrated to cause Marinesco-Sj?gren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sj?gren syndrome, but without mutations in SIL1. These two patients also manifested cerebral white matter involvement in cranial imaging, which was previously described in Marinesco-Sj?gren syndrome. Marinesco-Sj?gren syndrome is genetically heterogeneous, and mutations of SIL1 are often not evident. Consequently, we presume that new genes for Marinesco-Sj?gren syndrome await discovery. New genes hold the promise of furthering the mechanistic understanding of the condition, enabling clinically meaningful genetic classification schemes to be designed.     

Posttraumatic giant proliferating trichilemmal cysts on the parietal region of the scalp

Proliferating trichilemmal (pilar) cysts, also known as pilar tumors, are most commonly found on the scalp of elderly women. Proliferating trichilemmal cysts are rare, slowly growing, lobular masses inherited autosomal dominantly and localized on scalps, and believed to arise due to a complication of a trauma and inflammation, and 5-10% of people are reported to be effected. Herein, we present the case of a 70-year-old woman with a 23-year history of multiple enlarging scalp masses. Clinically, squamous cell carcinoma was considered in the differential diagnosis, and the lesion was totally excised. Our case emphasizes the necessity for detailed clinical and pathological correlation for differential diagnosis.     

Use of Cortoss as an alternative material in calvarial defects: the first clinical results in cranioplasty

A clinical series of 13 patients who underwent cranioplasty using a new quick setting material, namely Cortoss, was done over 3-year period. Thus, the primary objective of this study is to evaluate the role of Cortoss in the treatment calvarial defects which were mainly due to trauma (4 patients), tumor or tumor-like lesions (5 patients), middle cerebral infarction (3 patients), and gun shot wound (1 patient). The surgical technique was found to be simple and effective. Long-term follow-up (mean 24.3 months) demonstrated satisfactory results in terms of surgical (functional) and cosmetic outcomes.None of the patients developed complications including infections, foreign body reactions or material leakage. The results led us to suggest that the use of Cortoss in the case of calvarial defects seems to be safe, effective, quick, and a feasible method for cranioplasty. We conclude that the mechanical, immunologic, and technical-grafting properties of Cortoss, together with its superior esthetic and psychological effects, probably will make it the best material for cranioplasty.     

Long-standing fever and Angelman syndrome: report of two cases

Abstract:   An 8-month-old girl and a 20-month-old boy who presented with motor and developmental delay and long-standing fever are presented. The patients were diagnosed as Angelman syndrome with fluorescence in situ hybridization (FISH) analysis. Despite extensive clinical and laboratory examinations, no inflammatory or infectious origin for the fever was found. It was considered that the long-standing fever observed in these cases was due to hypothalamic dysfunction for thermoregulation.     

Vascular events in lung cancer

Background and aims: In lung cancer, many factors have prognostic significance, including thrombocytosis, which is frequently observed. Associations between vascular events, which are the outcomes of paraneoplastic symptoms, and mortality and morbidity has been evaluated in many studies. The aim of the present study was to evaluate the relationship between thrombocytosis and vascular events. Materials and Methods: In total, 281 patients, who were histopathologically diagnosed with lung cancer between March 2007 and August 2009, were evaluated retrospectively. Data analysis was performed using the Statistical Package for the Social Sciences (SPSS) software (ver. 11.5 for Windows). Analysis of the distribution of constant variance for normality was assessed using the Shapiro-Wilk test. Nominal variables were evaluated using Pearson’s chi-squared or Fisher’s exact chi-squared tests. Significant correlations between continuous variables were investigated using Spearman’s correlation test. Results: Of the 281 patients, 234 (83.3%) were males and 47 (16.7%) were females, with a median age of 60.6 (31–83 years). Histopathologically, 40 (14.2%) were diagnosed with small-cell lung cancer and 241 (85.8%) with non-small cell lung cancer. In total, 17 (6.04%) vascular events were identified: 11 (64.7%) deep vein thromboses, three (17.6%) pulmonary thromboembolisms, one (5.9%) cerebral arterial thrombosis, and one (5.9%) vena cava superior thrombosis. Thrombocytosis was not determined during thrombosis, but during subsequent visits. Conclusions: Thrombocytosis is frequently observed in patients with lung cancer. Further prospective studies are required to evaluate the need for prophylactic anticoagulants in these patients. The association between vascular events and survival, the next step of the present study, will be evaluated prospectively.     

Multiple erythematous nodules and ecthyma gangrenosum as a manifestation of Pseudomonas aeruginosa sepsis in a previously healthy infant

Pseudomonas aeruginosa septicemia is rare in healthy infants and children. Also not common, dermatologic manifestations such as ecthyma gangrenosum and indurated erythematous nodular lesions may be the first signs of pseudomonas infection, or may appear later in the course of the disease. Peripheral facial paralysis and mastoiditis are also rare and serious complications of acute otitis media caused by P. aeruginosa. We report a previously healthy 6-month-old boy who had an uncommon presentation and rare complications during the course of P. aeruginosa sepsis.     

Prevalence of osteoporosis and vertebral fractures and related factors in patients with ankylosing spondylitis

Background Osteoporosis and vertebral factures are well recognized features in patients with ankylosing spondylitis （AS）.The aim of this study was to investigate the prevalence and risk factors of osteoporosis and vertebral fractures in patients with AS.Methods Fifty-nine AS patients and 40 healthy controls were enrolled.Bone mineral density （BMD） was measured using dual-energy X-ray absorptiometry （DEXA） at posterior-anterior （PA） lumbar,lateral lumbar and hip regions.Thoracic and lumbar X-rays were obtained for morphometric measurements.Clinical,biological and radiological statuses were evaluated with Bath Ankylosing Spondylitis Disease Activity Index （BASDAI）,Bath Ankylosing Spondylitis Metrology Index （BASMI）,Bath Ankylosing Spondylitis Functional Index （BASFI）,Bath Ankylosing Spondylitis Radiology Index-total （BASRI-t）,erythrocyte sedimentation rate （ESR） and the C-reactive protein levels.Results Osteoporosis was present in 32% of patients and 5% of controls according to lateral vertebral BMD measurements.Fracture was present in 31% of patients.The effect of some clinical and laboratory parameters on BMD status and vertebral fractures was analyzed in the patient group.Osteoporosis in lateral lumbar DEXA was associated with higher BASMI,BASFI,BASRI-t scores and ESR level.Low hip BMD was associated with low BMI and high BASFI and BASRI-t scores.Vertebral fractures were associated with advanced age,longer disease duration,longer duration since diagnosis,higher BASMI and BASRI-t scores,higher ESR level,reduced femoral and lateral lumbar BMD.Logistic regression analysis revealed that only BASRI-t score was significantly associated with low lateral spinal BMD and BMI and BASFI score were independently associated with low hip BMD.The presence of compression fractures was independently associated with BASRI-t score and low lateral lumbar BMD.Conclusions Osteoporosis and vertebral fractures in AS seem to be related to the extent of radiological involvement.A low lateral lumbar BMD     

A case of bullous pemphigoid ınduced by vildagliptin

Bullous pemfigoid (BP), an autoimmune disorder, can also be induced by some medications. Vildagliptin is a new drug used to treat diabetes mellitus (DM). Recently, a few cases of vildagliptin-induced BP have been described in the literature. We report a patient with BP in which vildagliptin was thought to be as a possible causative agent. The awareness of BP development risk during gliptin therapy can prevent unnecessary usage of systemic drugs with serious side effects.