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Background: Idiopathic spinal epidural lipomatosis (iSEL) is frequently associated with the utilization of steroids, endocrine disorders, obesity, and surgical interventions. Nevertheless, the pathogenesis of iSEL remains inadequately understood. The study aimed to investigate the contribution of inflammatory factors to idiopathic epidural lipomatosis., Methods: Thirteen patients with iSEL (Grade III, iSEL group) and 12 patients with lumbar disc herniation (control group) who underwent unilateral biportal endoscopy from March 2020 to April 2023 were enrolled. Histological examination of adipose tissue was the performed to analyze expressions of pro-inflammatory cytokines (TNF-α, IL-1β), and anti-inflammatory factors (arginase-1, IL-10) in serum and epidural adipose cells., Results: Compared with the control group, the number of inflammatory cell infiltrations per field in HE-stained sections was significantly elevated, TNF-α and IL-1β expression in adipocytes of epidural adipose tissue were markedly higher, and arginase-1 and IL-10 expression were significantly lower in the iSEL group (all p < 0.001). However, no statistically significant differences were observed in the serum level of TNF-α, IL-1β, arginase-1, and IL-10 between the two groups (p = 0.963). In addition, there was also no significant disparity in adipocyte size between the two groups (p = 0.739)., Conclusion: iSEL demonstrated elevated inflammatory cells and imbalance towards proinflammatory cytokines in adipocytes of epidural adipose tissue that may be associated with the pathogenesis of symptomatic iSEL. These data suggest that inflammatory response could be one of the mechanisms of iSEL. However, further multicenter epidemiological investigations and rigorous basic and clinical research are warranted to elucidate the specific etiology of iSEL.

Purpose: The purpose of this meta-analysis was to summarize the evidence of associations between obesity factors and spinal epidural lipomatosis (SEL) and to evaluate the strength and validity of these associations., Methods: Electronic databases such as Wiley Online Library, PubMed, Embase, Cochrane Library were searched and manual retrieval of references, the time limit was from the establishment of the database to May 2020. Methodological quality evaluations of the included studies were assessed using the bias risk assessment tool recommended by the Cochrane Guidelines. The RevMan 5.3 software was used for meta-analysis., Results: Finally, seven studies were included for meta-analysis, all of which were observational studies with mixed bias risk. These studies involved 807 patients, with an average age of 64 to 73.6 years, and 59.4 percent of the participants were male. The sample sizes for the included studies ranged from 28 to 288. The results of meta-analysis showed that high body mass index (BMI) was one of the factors affecting SEL ( P < 0.01, MD 1.37, 95% CI [0.81, 1.92]). All reviews had a high risk of bias, and the most common source of bias was that there was no strict unified case diagnosis standard between researches, and some studies (four items) did not clearly describe the confounders that they controlled., Conclusions: We suggest that physicians should consider high BMI as a factor leading to SEL, and to control body weight actively should be considered as the preferred treatment strategy before surgical intervention is conducted.

Competing Interests: None

Introduction: Patients with MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) usually present with encephalomyopathy. However, progressive, recurrent cervicothoracic lipomatosis may be rarely observed., Case Report: The authors report 4 cases of MERRF syndrome associated with lipomatosis. In 3 patients, the diagnosis of MERRF syndrome was established on the basis of the clinical features of the lipomas and clinical interview revealing a personal or family history of lipomas and myopathy., Discussion: In the presence of extensive spinal lipomatosis, the presence of other clinical signs of MERRF syndrome in the patient or the patient's family must be investigated. A diagnosis of MERRF syndrome can guide appropriate genetic counselling., (Copyright © 2018. Published by Elsevier Masson SAS.)

Spinal epidural lipomatosis is an abnormal accumulation of unencapsulated epidural fat causing compression of the neural elements. It can be divided into idiopathic and secondary. Secondary is often associated with chronic steroid use and endocrinopathies. Idiopathic has been associated with obesity. We report a 48-year-old man with obesity and a history of chronic back pain who developed idiopathic spinal epidural lipomatosis diagnosed by magnetic resonance imaging, which subsequently resolved completely after sleeve gastroplasty over a 6-month follow-up period.

Lipomatoses are benign proliferations of adipose tissue, often with typical distribution patterns, which usually occur without clear causes. In contrast to circumscribed lipomas, they develop diffusely and symmetrically and are not surrounded by a fibrous pseudocapsule. The most common form is benign symmetric lipomatosis (BSL; Launois-Bensaude syndrome), of which four types are distinguished based on the distribution pattern of hyperplastic adipose tissue. The etiology and pathogenesis of the disease are still largely unknown, although some forms appear to have a hereditary basis or to be associated with increased alcohol consumption. In some cases, mitochondrial dysfunctions have been detected. Lipomatoses may be solitary, but may also be associated with other symptoms or illnesses (comorbidity). Effective drug therapies are not known, but surgical procedures can alleviate the symptoms. Lipomatosis dolorosa, which can be distinguished from BSL, occurs predominantly in middle-aged women and is characterized by proliferation of adipose tissue and severe pain in the affected areas. Various differential diagnoses and concomitant illnesses need to be considered, in particular depression. There are no evidence-based recommendations for therapy. Repetitive lidocaine infusions can achieve temporary improvement. Recurrence after surgical intervention is not uncommon, but long-term success is also possible., (© 2018 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)

Lipoedematous scalp (LS) is an extremely rare condition characterised by a soft and boggy consistency in the scalp due to an increased layer of subcutaneous tissue.In this report, we present a case of LS in a 64-year-old Indian woman. Clinical examination revealed only vague boggy lumpiness involving the whole of occipital scalp extending to parietal scalp. MRI scalp showed diffuse fatty infiltration of the scalp, particularly at the posterior parietal and occipital convexity extending to both lateral aspects of the cranium, with homogeneous signal in keeping with fat. Incidentally MRI also found diffuse fatty infiltration of the parotids.The aethiopathogenesis of LS is still unknown, however it is believed that the hormone leptin could be the key hormone in the dysregulation of fat deposition and distribution. This case report highlights the subtle features with which these cases can present and explores the literature on reported cases of LS., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Competing Interests: Competing interests: None declared.

Objective: Lipogranuloma is a rare inflammatory reactive process in the dermis and subcutis. We present a summary of the 6 cases of lipogranuloma after facial cosmetic procedures., Study Design: We performed a retrospective review including patient demographic data, clinical symptoms, appearance on computed tomography, treatment, pathology results, and history of facial cosmetic procedures., Results: In most cases, the nodules were painless and showed no significant growth. Computed tomography revealed ill-defined swellings in the buccal fat pad with heterogeneous density. Histopathological examinations revealed numerous variable-sized empty microcysts surrounded by abundant lymphocytes and foamy macrophages, the characteristic features of lipogranuloma. On further questioning, all of the patients revealed that they had undergone some form of facial cosmetic procedure in the preceding months to years. Among the 6 cases, facial autologous fat injection may have been the main cause of lipogranuloma., Conclusion: Lipogranulomas can develop months to years after facial cosmetic procedures distant from the injection sites. A thorough understanding of the patient's medical history and the clinical and histopathologic characteristics of lipogranuloma are necessary to make a definite diagnosis and allow appropriate treatment., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: A previous study reported a high prevalence of spinal epidural lipomatosis (SEL) in patients with Scheuermann kyphosis (SK) and suggested that it may play a role in the pathogenesis of this disease. According to our observation, however, SEL occurs in other spinal kyphotic deformities as well. The aim of this study was to test the hypothesis that SEL commonly occurs in patients with different types of kyphotic deformities as a secondary intraspinal disorder., Methods: MR images of 16 patients with congenital kyphosis (CK), 40 patients with SK, 13 patients with tuberculotic kyphosis (TK), and 69 age- and sex-matched controls were retrospectively evaluated. The body mass index (BMI), kyphosis Cobb angle, and sagittal diameters of spinal epidural fat (EF) and the dural sac (DS) in the apical region (EF A , DS A ) and non-kyphotic region (EF N , DS N ) were measured. The EF ratios at the apical vertebral level (EFR A ) and in the non-kyphotic region (EFR N ) were calculated as EF / (EF + DS)., Results: EF A and EFR A were significantly higher among patients with CK, SK, and TK than among controls (P < 0.05). Seven CK patients (43.8%), 8 SK patients (20.0%), and 11 TK patients (84.6%) fulfilled the diagnostic criteria for SEL, while only 6.3, 2.5, and 0% of patients in the control groups did (P = 0.019, 0.014, and < 0.001, respectively). Spearman's correlation analysis showed statistically significant correlations between the kyphosis Cobb angle and the amount of EF in all three patient groups., Conclusions: SEL is a common secondary intraspinal disorder in different types of kyphotic deformities, and surgeons should pay increased attention to this intraspinal anomaly because excessive EF may compress the spinal cord and cause neurological deficits.

Study Design: Patients with preoperative spine magnetic resonance imaging (MRI) studies from a prospective multicenter study of operative adolescent Scheuermann kyphosis (SK)., Objectives: To investigate the usefulness of MRI screening in operative planning for SK surgeries., Summary of Background Data: Neural axis abnormalities in operative SK have not been previously studied with MRI screening, despite its use., Methods: One orthopedic surgeon and two radiologists evaluated all images retrospectively. Radiographs were evaluated for kyphosis apex and magnitude. MRIs were evaluated for spinal cord abnormalities, epidural lipomatosis, location and number of vertebral wedging, Schmorl nodes and posterior disc herniations, frequency of spondylolysis, etc. The relationship of these pathologies to the kyphosis apex was explored. This group was compared to a surgical SK group without preoperative MRIs., Results: Eighty-six patients with MRIs, mean age 16.3 years, 64% male, and a mean preoperative kyphosis of 75.9° were evaluated. There were 17 spinal cord abnormalities. Low-lying conus was found in 2 patients, and syrinx in 15 (no Chiari malformations). Epidural lipomatosis was found in 49 patients, average of 5.7 levels. Anterior vertebral wedging occurred in all (mean 4.7 levels). Posterior disc herniations averaged 5.2 levels/patient and 1.8 levels caudad to the apex. Spondylolysis was reported in 8.1%. Four cases (4.7%) had the operative plan changed as a result of the preoperative MRI: two due to neural compression, one due to disc herniation and one due to a spinal cord draped over the apex. Thirty-one patients did not receive an MRI; there were no significant differences between the two groups. The rate of postoperative neurologic change was 3.5% in the MRI group and 3.2% in the no-MRI group., Conclusions: Based on 4.7% of cases requiring a change in the operative plan as a result of preoperative MRI, the authors recommend considering performing screening MRI in operative SK patients., (Copyright © 2016 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.)

Objective: To present a case of gastroduodenal lipomatosis associated with familial multiple lipomatosis (FML)., Clinical Presentation and Intervention: A 58-year-old male presented with FML that manifested as multiple, painless, subcutaneous lipomas on his body; his mother had subcutaneous lipoma without a diagnosis of gastroduodenal lipomatosis. His lipid profile was normal. Abdominal computed tomography showed multiple, submucosal, polypoid lesions (of uniform density) of fat in the stomach and duodenum, and a small, similar lesion in the ileum., Conclusion: This case shows that gastrointestinal lipomatosis can manifest as FML., (© 2016 S. Karger AG, Basel.)

Study Design: Multicenter case-control study., Objective: To characterize the pathogenesis of idiopathic spinal epidural lipomatosis (SEL)., Summary of Background Data: SEL is often associated with the history of steroid use or endocrine disorders; however, the pathogenesis of idiopathic SEL remains poorly understood., Methods: Sixteen patients who underwent lumbar decompression surgery due to severe idiopathic SEL were included in the study (L group, 15 men and 1 woman; mean age, 71.5 yrs). Fifteen patients without SEL, who underwent decompression surgery for lumbar canal stenosis, were selected as controls (C group, 14 men and 1 woman; mean age, 70.3 yrs). The following parameters were analyzed in these two groups: body mass index (BMI), medical history, histology, the size of adipocytes in the epidural fat (EF) tissues, and the expression level of the transcripts for adiponectin, leptin, tumor necrosis factor-α (TNF-α), interleukin (IL)-1β, IL-6, and IL-8., Results: The mean BMI of the L group was significantly higher than that of the C group (29.1 vs. 25.2 kg/m, P = 0.006), and there was a significant correlation between BMI and the width of EF in both groups. The average adipocyte size in the EF was significantly larger in the L group than in the C group (2846.8 vs. 1699.0 μm, P = 0.017). Furthermore, the expression levels of the transcripts for TNF-α and IL-1β in the L group were significantly higher than those in the C group [2.59-fold increase (P = 0.023) and 2.60-fold increase (P = 0.015), respectively]., Conclusion: Our data suggest that the pathogenesis of idiopathic SEL is associated with obesity. In addition, the increased expression of two major inflammatory cytokines in the EF in the L group may indicate that SEL is causally related to chronic inflammation., Level of Evidence: 3.

Background: Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most consistent feature of encephalocraniocutaneous lipomatosis., Patient Description: We describe an 18-year-old girl with most of the central nervous system manifestations of encephalocraniocutaneous lipomatosis, major skin alterations including nevus psiloliparus, but no ocular involvement., Conclusion: Our patient suggests more variability in clinical features and a more complex genetic/embryonic etiology of encephalocraniocutaneous lipomatosis., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Consumption of feedstuffs contaminated with ergot alkaloids has a broad impact on many different physiological mechanisms that alters the homeostasis of livestock. This change in homeostasis causes an increased sensitivity in livestock to perturbations in the ambient environment, resulting in an increased sensitivity to such stressors. This ultimately results in large financial losses in the form of production losses to livestock producers around the world. This review will focus on the underlying physiological mechanisms that are affected by ergot alkaloids that lead to decreases in livestock production.

Background: Epidural lipomatosis (EL) is an increase of adipose tissue, normally occurring in the epidural space, sufficient to distort the thecal sac and compress neural elements. There is a lack of knowledge of risk factors, impact on patient's symptoms, and its possible association with epidural steroid injections., Methods: History, physical examination, patient chart, and MRI were analyzed from 856 outpatients referred for epidural steroid injections. Seventy patients with signs of EL on MRI comprised the study group. Thirty-four randomly selected patients comprised the control group. The severity of EL was determined by the MRI assessment. The impact of EL was determined by the patient's history and physical examination. Logistic regression was used to correlate the probability of developing EL with BMI and epidural steroid injections., Results: EL was centered at L5 and S1 segments. The average BMI for patients with EL was significantly greater than that of control group (36.0 ± 0.9 vs. 29.2 ± 0.9, p <0.01). The probability of developing EL with increasing BMI was linear up to the BMI of 35 after which it plateaued. Triglycerides were significantly higher for the EL group as compared to controls (250 ± 30 vs. 186 ± 21 mg/dL p < 0.01). The odds of having EL were 60% after two epidural steroid injections, 90% after three epidural steroid injections and approached 100% with further injections, independent of BMI. Other risk factors considered included alcohol abuse, use of protease inhibitors, levels of stress, hypothyroidism and genetic predisposition. However there were insufficient quantities to determine statistical significance with a degree of confidence. The impact of EL on patient's symptoms correlated with EL severity with Spearman correlation coefficient of 0.73 at p < 0.01 significance level., Conclusions: The BMI and triglycerides levels were found to be significantly elevated for the EL group, pointing to an increased risk of EL occurrence in progressively more obese US population. The data also revealed a strong correlation between the number of subsequent epidural steroid injections and EL occurrence calling for caution with the use of corticosteroids.

The goal of this study was to quantify the frequency of advanced spinal epidural lipomatosis (SEL) detected on lumbar magnetic resonance imaging (MRI) scans performed at the authors' hospital and to compare the frequency, cause, and progression of SEL in these cases with that reported in the literature. The total number of MRI examinations of the lumbar spine performed at this hospital over 45 months was 1498 (705 men and 793 women; mean age, 60.3 years). After the MRI data were reduced (T1- and T2-weighted sagittal and axial images) on the basis of the exclusion criteria, the anterior and posterior diameters of the dural sac and spinal canal were measured, as well as the thickness of the epidural fat. On the basis of these parameters, the severity of SEL was classified as grade 0 to grade III. Five cases of grade III SEL were diagnosed. The frequency of grade III SEL noted in this study was 0.33% (5/1498). Obesity (body mass index greater than 27.5) was noted in 3 cases, and the use of exogenous corticosteroids was noted in 3 cases. Exogenous steroid usage associated with advanced SEL in this study was greater than that reported in the literature. Most symptoms of SEL progress slowly, and early diagnosis allows for a dose reduction of the prescribed steroids. Thus, lumbar MRI examinations should be conducted aggressively in patients with exogenous steroid use and presenting with low back pain or buttock pain., (Copyright 2014, SLACK Incorporated.)

Cellulite is a multifactorial etiology ailment. It changes the skin topography by the formation of the skin surface's appearance, changes described as "orange peel". This prob- lem concerns 85-98% of women, and for them it is one of the most intolerable aesthetic imperfections. In the past few years the interest of scientists in this problem has clearly increased. Several theories on the pathophysiology of cel- lulite have been produced A number of different thera- peutic regimens have been developed using modern tech- nology. However, despite the many treatment options for cellulite, it is extremely important that patients should be aware that only multidirectional treatment can bring sat- isfactory results. The aim of this review was to describe the causes of cellulite, and its prevention and treatment.

Shwachman-Diamond syndrome is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysplasia, and physical retardation. Its worldwide prevalence is 1:10,000 to 1:20,000 live births depending on the region. The SBDS gene and a few mutations, which lead to this syndrome, have been found in the past decade. The paper describes a case of this rare disease in a 28-year-old male patient who has all characteristic manifestations as lipomatosis and severe exocrine pancreatic insufficiency, neutropenia with bone marrow hypoplasia, physical retardation, glucose intolerance, secondary osteopenia, and minor cardiac anomalies. Its clinical diagnosis was verified by molecular genetic testing.

Lipomatosis of nerve is a rare benign tumor-like process characterized by infiltration of the epineurium by adipose and fibrous tissue leading to nerve enlargement. We describe a case of lipomatosis of the sciatic nerve compressed by an adjacent desmoid tumor. This case supports the hypothesis that lipomatosis of nerve may form as a result of irritation or compression by adjacent structures.

Background: Nevus lipomatosus superficialis (NLS) is a unique developmental anomaly or nevoid form of lipoma characterized by the ectopic presence of mature adipocytes in reticular dermis. The condition is rare; apart frrom isolated case reports, there are no large case series dealing with the clinicoepidemiologic characteristics and posttreatment long-term follow-up in patients with NLS and little published information on treatment outcome., Objective: To study the clinicoepidemiologic characteristics and long-term posttreatment follow-up in patients with NLS., Methods: This was an 11-year retrospective study analyzing disease characteristics and treatment outcome in eight patients with NLS., Results: There were eight (six males, two females) patients with NLS, of whom three were children. The classic variant of NLS was the predominant presentation. One patient demonstrated a combination of both classic and solitary variants. Most patients, especially those with solitary variants, were commonly misdiagnosed before presenting to us. Four patients, including two with the solitary variant, one each with the classic and the combined type, underwent surgical resection without any recurrence over 8 years of follow-up., Conclusions: The rare nature of the disorder, which is commonly misdiagnosed, and the absence of long-term follow-up data prompted us to share our experience about NLS to increase its awareness among health care providers.

Solitary paraspinal masses in the pediatric age group commonly occur secondary to spinal dysraphism, chronic inflammatory conditions, and tumors. We describe the unusual case of a 10-year-old boy with a nondysraphic, paraspinal mass that had occurred secondary to congenital spinal epidural lipomatosis (SEL) in the setting of poorly controlled maternal type-I diabetes mellitus. The mass was picked up along with a ventricular septal defect (VSD) on an antenatal ultrasonogram. This is the first report in literature of SEL presenting as a solitary paraspinal mass at birth, and in the unusual setting of an antenatal mesodermal derangement that simultaneously engendered a VSD.

Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of aplastic anemia and malignant transformation. Multiple additional organ systems, including the pancreas, liver, and skeletal and central nervous systems, are affected. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are present in most patients. There is growing evidence that SBDS functions in ribosomal biogenesis and other cellular processes. This article summarizes the clinical phenotype of SDS, diagnostic and treatment approaches, and novel advances in our understanding of the molecular pathophysiology of this disease., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Fat may be noted in a diffuse or focal manner in a variety of nonneoplastic abdominopelvic conditions. The specific signature of macroscopic fat on computed tomography along with the usually characteristic findings of these entities makes the diagnosis of most of these conditions relatively straightforward. In the intestinal tract, the "fat halo sign" usually arises in the context of subacute to chronic bowel wall inflammation. Excess fat in the renal sinus may occur with renal sinus lipomatosis or "replacement lipomatosis of the kidney." Some cases of "pancreatic lipomatosis" may culminate in steatopancreatitis and ultimately neoplastic transformations. "Fibrofatty mesenteric proliferation" is a characteristic feature of Crohn disease. In the setting of the acute abdomen, accurate diagnosis of fat-containing lesions (epiploic appendagitis or omental infarction) from other causes of the acute abdomen is critical. Mesenteric panniculitis is 1 of the causes of the "misty mesentery." Juxtacaval fat deposition is a benign process that has the potential to be confused with more serious conditions. More diffuse fat deposition (abdominal or pelvic lipomatosis) has the potential to become symptomatic by causing mass effect upon the adjacent structures. Fat can also be seen in a variety of postoperative/iatrogenic conditions or abdominal wall/diaphragmatic hernias., (Copyright © 2012 Mosby, Inc. All rights reserved.)

Abnormal fat deposition in the epidural space or spinal epidural lipomatosis (SEL) due to corticosteroid treatment or obesity may cause obstruction to cerebrospinal fluid flow. Little is known about SEL in patients with hematologic malignancies who require frequent lumbar punctures and corticosteroid treatment that places them at risk. Records and radiologic images of patients with SEL and leukemia or non-Hodgkin lymphoma (NHL) treated at a single institution from 1999-2009 were reviewed. Risk factors were compared with 405 control patients with leukemia. Fourteen patients with leukemia or NHL were diagnosed with SEL. The majority of patients underwent diagnostic imaging after unsuccessful lumbar punctures within 1 month of their primary diagnosis. Prior to SEL diagnosis, all patients received systemic and/or intrathecal corticosteroids. SEL diagnosis led to modification of intrathecal administration in eight patients, including Ommaya reservoir placement in four patients. All patients completed protocol-specified chemotherapy without neurologic symptoms or surgical intervention. Risk factors for developing SEL include older age and high body mass index. Investigation for SEL in leukemia or lymphoma patients with difficult lumbar punctures is warranted. Placement of an Ommaya reservoir may facilitate safe CNS-directed therapy in severely affected patients.

Shwachman-Diamond syndrome (SDS) is an autosomal-recessive disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. Mutations in the SBDS gene are identified in most patients with SDS. Recent studies have shown that SBDS is involved in ribosome biogenesis and is localized to the nucleolus. The significance of cellular localization in SBDS is unknown, particularly as SBDS does not exhibit canonical nuclear localization signals. In this study, we have constructed wild-type deletion mutants of the critical domains and disease-associated mutants of the SBDS gene. These constructs were expressed in HeLa cells to explore the subcellular distribution of normal and mutant proteins. Wild-type SBDS was detected in the nucleus. However, constructs lacking N-terminal Domain I and two disease-associated mutants (C31W and N34I) failed to localize SBDS to the nucleus. Moreover, the amount of mutated SBDS protein was decreased. When N-terminal Domain I was overexpressed in HeLa cells, the localization of endogenous SBDS protein was changed from nuclei to cytosolic fraction. These data indicate that the N-terminal Domain I is responsible for nuclear localization. Furthermore, low expression of SBDS, as exhibited in some of the disease-associated mutants, may be associated with the pathogenesis of SDS.

Symptomatic spinal epidural lipomatosis is a rare disorder characterized by overgrowth of fat in the extradural space. Most patients have an underlying endocrine disorder, such as Cushing's syndrome, or have taken exogenous steroids chronically. Although less common, obesity alone is thought to be a cause of spinal epidural lipomatosis, representing <25% of reported cases. Patients rarely become symptomatic before middle age without chronic exogenous steroid use. The usual clinical manifestations are similar to degenerative lumbar stenosis with neurogenic claudication, resulting in decreased walking and standing endurance with variable neurological deficits.This article describes 2 unique cases of spinal epidural lipomatosis, both in young patients with underlying morbid obesity who presented with acute progressive leg weakness and urinary retention. The patients had no underlying endocrinopathy, nor any history of exogenous steroid use. They underwent emergency laminectomy and removal of epidural fat, and histopathological examination confirmed the diagnosis of epidural lipomatosis. Postoperatively, the patients demonstrated significant improvement.We conducted a review of the available English literature and compared the age distribution in each group. Based on our review, our 2 patients are considerably younger than those in past reports, especially in the patient group to which the steroid was not administered. In addition, few cases exist of spinal epidural lipomatosis with acute sphincter dysfunction and paraparesis. Our cases suggest that morbid obesity can lead to juvenile spinal epidural lipomatosis with acute neurological changes., (Copyright 2011, SLACK Incorporated.)

Purpose of Review: Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are found in the majority of patients, but the molecular function of the SBDS protein product remains unclear. In this article, we review recent progress in the clinical and molecular characterization of SDS., Recent Findings: Emerging data support a multifunctional role for the SBDS protein. Current studies indicate that SBDS functions in 60S large ribosomal subunit maturation and in mitotic spindle stabilization. Recent data suggest that it may also affect actin polymerization, vacuolar pH regulation, and DNA metabolism. SBDS loss results in both hematopoietic cell-intrinsic defects as well as marrow stromal abnormalities., Summary: SDS is a multisystemic disease arising from defects in a protein that participates in several essential cellular processes. Elucidating the molecular function of SBDS will provide important insights into how defects in ribosome biogenesis and mitotic spindle stabilization result in hematopoietic failure, cancer predisposition, and abnormalities.

Spinal epidural lipomatosis (SEL) is a rare condition characterized by abnormal deposits of fat in the epidural space. In a severe form this may cause compression of neural elements. This is the second report of SEL secondary to a carcinoid tumour. Our patient was a 34-year-old Caucasian male farm worker presenting with acute spinal cord compression. He had gained 11kg, and had developed Type II diabetes mellitus in the preceding 12months. On examination he displayed characteristic features of Cushing's syndrome. MRI demonstrated posterior epidural lipomatosis, with cord compression from T3 to T8. Urgent spinal cord decompression was performed. Further investigation confirmed a biochemical Cushing's syndrome secondary to an ACTH-producing pulmonary carcinoid tumour., (Copyright © 2010 Elsevier Ltd. All rights reserved.)

Objectives: Obesity and insulin resistance cause fatty infiltration of many organs, including the pancreas (pancreatic steatosis [PS]) and the liver (nonalcoholic fatty liver disease [NAFLD]). In contrast to NAFLD, pathophysiological mechanisms and clinical relevance of PS remain unknown. This study aimed to identify a possible relation between PS and NAFLD., Methods: In this study including postmortem collected material of 80 patients, clinical and histological data were collected and revised. Patients with hepatic or pancreatic disease and alcohol abuse were excluded. Nonalcoholic fatty liver disease activity score was used for grading the histology of the liver, whereas pancreatic lipomatosis score assessed PS. Ordinal logistic regression was used to analyze correlations., Results: Interlobular and total pancreatic fat were both related to NAFLD activity score in patients without steatogenic medication (P = 0.02 and P = 0.03, respectively). When corrected for body mass index, no relation could be found. Total pancreatic fat was a significant predictor for the presence of NAFLD (P = 0.02). Presence of intralobular pancreatic fat was related to nonalcoholic steatohepatitis; however, total fat was not., Conclusions: This study demonstrates that NAFLD and PS are related. This relationship seems to be mediated by general obesity. Intralobular pancreatic fat is associated with nonalcoholic steatohepatitis.

Massive adipose tissue depositions in the abdomen and thorax sufficient to interfere with respiration developed in a patient with multiple medical problems. Biopsy of adipose tissue identified human adenovirus 36 (Adv 36) DNA. Adv 36 causes adipogenesis in animals and humans. Development of massive lipomatosis may be caused by Adv 36.