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At least 415 records · Page 23Linked to original sources
PubMed2006

Decompression of idiopathic lumbar epidural lipomatosis: diagnostic magnetic resonance imaging evaluation and review of the literature.

OBJECT: Idiopathic symptomatic spinal epidural lipomatosis (SEL) is a rare condition, and few reports have discussed diagnostic imaging criteria. To evaluate factors relating to its clinical symptoms, correlations between clinical features and the presence of spinal epidural fat were investigated, and the literature concerning idiopathic SEL was reviewed. METHODS: Morphological gradings of epidural fat were evaluated in seven patients with idiopathic SEL by using magnetic resonance (MR) imaging. In addition, body mass index (BMI), the number of involved vertebral levels, grade, and preoperative Japanese Orthopaedic Association (JOA) score were analyzed. Surgery resulted in symptomatic relief, with a mean JOA score recovery rate of 67.4%. Grading of epidural fat tended to display a slight negative correlation with preoperative JOA score, whereas a strong significant positive correlation was found between the number of involved vertebral levels and BMI. CONCLUSIONS: The number of involved vertebral levels and obesity are strongly correlated, whereas severity of dural compression is not always significantly associated with neurological complications. These results indicate that epidural fat of the lumbar spine contributes to neurological deficits. In addition, weight-reduction therapy appears to decrease the number of vertebral levels involved. Magnetic resonance imaging-based grading is helpful for the diagnosis and evaluation of idiopathic lumbar SEL. Moreover, symptoms and neurological findings are important for determining the surgical approach.

Adipose Tissue↗
PubMedDate not supplied

[Multiple symmetric lipomatosis: a case report].

We present the case of a 46 year-old man with Multiple Symmetric Lipomatosis (MSL), an infrequent disease with an unknown aetiology. MSL is characterized by multiple masses of adipose tissue and it is usually associated with alcoholism, metabolic disorders and neuropathy. We describe the clinical-morphological characteristics of the lesions it presents, the exploratory findings, cervical CAT, the analytical results and the results of subcutaneous biopsy. MSL type I disease was diagnosed. The treatment of choice, the lipectomy, was performed, making it possible to obtain a substantial disease improvement, both physical and aesthetically.

Biopsy↗
PubMed1999

Non-insulin-dependent diabetes mellitus with type I multiple symmetrical lipomatosis: a case report.

Type I multiple symmetrical lipomatosis (MSL; Madelung's disease) is characterized by lipomas in the nape of the neck and the supraclavicular and deltoid regions, resulting in a bull-necked appearance (Madelung's collar). It is most common in alcoholic men between 35 and 50 years of age. Type I MSL has been reportedly associated with hyperinsulinemia, but its association with diabetes mellitus is rarely discussed. We describe a case of non-insulin-dependent diabetes mellitus (NIDDM) associated with type I MSL. A 47-year-old alcoholic man presented with a seven-year history of hyperglycemia and progressive neck swelling with dysphagia for one year. Physical examination showed diffuse and symmetrical swelling of the bilateral posterior aspects of the neck. Biochemistry profiles revealed elevated concentrations of fasting serum glucose (276 +/- 16 mg/dl), triglycerides (358 +/- 79 mg/dl) and total cholesterol (323 +/- 28 mg/dl). Endocrinologic studies showed normal thyroid function. Neck sonography revealed diffuse thickening and swelling of the fatty structures of both sides of the neck. Normal sonography showed no fatty deposition in the liver. Maxillary and neck computerized tomography revealed diffuse fat accumulation in the submental and posterior neck regions, with no extension to the superior mediastinum. Fine needle aspiration cytology of the neck masses showed only fat cells. The patient received an oral hypoglycemic agent (glibenclamide 5 mg bid) for blood glucose control and lovastatin (20 mg before bed-time) for hyperlipidemia, and ceased drinking alcohol. The neck swelling resolved markedly after 15 months of medical treatment. This suggests that, in addition to the cessation of alcohol consumption, the reduction of blood glucose and lipid concentrations by medication may also assist in resolving the accumulated fat of type I MSL in patients with NIDDM.

Diabetes Mellitus, Type 2↗
PubMedDate not supplied

[Multiple symmetrical lipomatosis (MSL): a clinical case and a review of the literature].

Multiple symmetric lipomatosis (MSL) is a rare condition of the fatty tissue affecting mostly white men between 20 and 65 years old especially in the mediterranean region. The disease is characterized by a massive development of large unencapsulated lipomas mainly located on the subcutaneous tissue of the cervical, deltoid, thoracic, abdominal and lumbar areas and it is often accompanied by hyperuricemia, dyslipemia, macrocytic anaemia, peripheral neuropathy, impaired glucose tolerance and alcohol consumption. Alcohol could both promote the development of lipomas through changes in the number and function of beta-adrenergic receptors and because of its lipogenic and antilipolytic action. Other authors have hypothesized that the defective lipolysis is due to a disorder in the mitochondria of brown fat whose distribution is similar to the peculiar position of the lipomas in the MSL. In this report the authors describe an atypical clinical picture of MSL in a 65-years-old white man.

Aged↗
PubMed1999

The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis.

Rearrangements of the HMGI-C gene have frequently been detected in human benign tumors of mesenchymal origin, including lipomas. The HMGI-C protein has three AT-hook domains and an acidic COOH-terminal tail. The HMGI-C modifications consist in the loss of the C-tail and the fusion with ectopic sequences. Recent results show that the loss of the COOH-terminal region, rather than the acquisition of new sequences, is sufficient to confer to HMGI-C the ability to transform NIH3T3 cells. Therefore, transgenic mice carrying a HMGI-C construct (HMGI-C/T), containing only the three AT-hook domains, were generated. The HMGI-C/T mice showed a giant phenotype, together with a predominantly abdominal/pelvic lipomatosis, suggesting a pivotal role of the HMGI-C truncation in the generation of human lipomas.

3T3 Cells↗
PubMedDate not supplied

Extradural lipomatosis presenting with paraplegia.

An unusual case with spinal extradural lipomatosis in a non-obese and otherwise healthy man is reported. The patient presented with a history of weakness of legs which progressed to paraplegia over a 40 day period.

Adult↗
PubMed2000

Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteristic cutaneous lesions. We report on the antenatal and postnatal sonographic and radiologic, and on the postnatal pathologic findings of an infant diagnosed with ECCL at birth. The antenatal sonogram at 28 weeks of gestation showed normal intracranial structures; the sonogram at 38 weeks of gestation showed asymmetry of the cerebral hemispheres and ventriculomegaly. Magnetic resonance imaging at age 6 weeks demonstrated a porencephalic cyst on the left, hemiatrophy of the left cerebrum with cortical dystrophy, and a lipoma in the middle cranial fossa. Histologic findings of the resected cutaneous lesion confirmed the presence of fibrolipoma hamartoma. This case offers a unique insight into the antenatal and postnatal development of the hamartoneoplastic lesions of ECCL, and it highlights the difficulties inherent in the antenatal sonographic diagnosis of hamartoneoplastic syndromes.

Brain Diseases↗
PubMedDate not supplied

[Symmetric multiple lipomatosis. A case report with an unusual onset].

The authors report a case of symmetric multiple lipomatosis in a young woman with chronic liver disease caused by previous alcohol abuse whose onset occurred three years after the suspension of the toxic agent. The introduction includes a review of the latest literature, focusing in particular on the most probable etiopathogenetic causes, the most common clinical presentations and therapeutics choices. After a description of this particular case, the authors discuss the unusual presentation of the syndrome caused by the rapid onset of lipid accumulation a long time after the suspension of alcohol abuse.

Alcohol Deterrents↗
PubMedDate not supplied

[Multiple symmetrical lipomatosis with familial polineuropathy].

INTRODUCTION: Multiple symmetrical lipomatosis (LSM) is characterized by the development of symmetrical lipomas and is often associated with axonal polyneuropathy (PNP). Presentation is usually sporadic. Familial cases have been reported infrequently, with variable modes of inheritance. The pathogenesis is unknown. It has been related to mitochondrial cytopathy and alterations in lipid metabolism. OBJECTIVES: To establish clinico pathological correlation in our cases of familial presentation. Patients and methods. We report seven patients, from three families, teetotalers with LSM. Clinical assessment included lipidogram, neurophysiological study of nerve and muscle, sural nerve biopsy in two of them and muscle biopsy in one member of each family for morphological assessment, respiratory chain biochemistry and study of molecular genetics. RESULTS: LSM was associated with axonal PNP and hyperlipidemia in the seven members of the three families, with an apparent pattern of autosomal recessive inheritance. No conclusive data of mitochondrial cytopathy, in the form of significant morphological changes, biochemistry of the mitochondrial respiratory chain or micochondrial DNA were found. CONCLUSION: Although mitochondrial cytopathy has been described as part of the syndromes in which LSM occurs, there may be other undefined aspects, such as disorders of lipid metabolism which form part of the pathogenesis.

Aged↗
PubMed2002

Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome.

Synovial lipomatosis is a rare, synovial based disorder that typically affects a single knee. Magnetic resonance imaging and synovial biopsy established this diagnosis in a patient who presented with a 20 year history of painless swelling of the knees, wrists, and hands. Such extensive involvement, particularly of hand joints and tendon sheaths, has not been described previously. Superimposed on this chronic soft tissue joint swelling were acute knee effusions, which responded to intraarticular steroid injections. The co-occurrence with congenital short bowel syndrome may have etiological implications for this disorder of inappropriate fat deposition.

Adult↗
PubMed2002

Familial multiple lipomatosis.

BACKGROUND: Familial multiple lipomatosis is an extremely rare disease. The disease usually does not affect the daily life of FML victims, but they may experience difficulty in performing everyday physical tasks if the lipomas are multiple and large. Inheritance is frequently by autosomal dominant transmission, although cases with recessive inheritance have also been reported. OBJECTIVES: To determine the pattern of inheritance of the disease in a family with 83 members spanning three generations. METHODS: A complete family analysis was performed and all surviving members of the family were examined. Laboratory investigations were conducted in those with FML, including serum lipid, cholesterol and glucose levels, white blood cell count, hemoglobin, erythrocyte sedimentation rate, and renal and hepatic function tests. RESULTS: There were no consanguineous relationships between spouses in the family. The disease was first seen on the neck of the (male) index patient. This patient had 4 sons, 8 daughters and 60 grandchildren. The disease was established in four of his daughters and two of his sons. One of the female grandchildren whose mother has the disease was also affected. The laboratory findings were normal for all patients. CONCLUSION: Our findings showed that a) the disease is transmitted by the autosomal dominant route of inheritance; and b) lipomas observed at an early age may be numerous and large, may diffuse, and sometimes have to be excised surgically.

Adult↗
PubMedDate not supplied

[Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy].

INTRODUCTION: Multiple symmetric lipomatosis (MSL), which is predominantly found in middle aged males, is characterised by accumulations of fat in the neck, shoulders and other parts of the trunk, and sometimes associated with different neurological manifestations, both central and peripheral. Although its aetiology is unknown, it has been described as associated with mitochondrial cytopathies. AIMS. To describe the case of a young female with MSL associated with mitochondrial encephalomyopathy. CASE REPORT: Girl aged 14 with MSL, ataxia, patellar hyperreflexia, bilateral Babinski sign, pes cavus, axonal peripheral neuropathy, involvement of the optic pathway, atrophy of the cerebellum, subsarcolemmal mitochondrial accumulations in the untrastructural examination of the vastus lateralis muscle and partial deficit of complex I in the mitochondrial respiratory chain. As regards molecular genetic aspects, the most frequent mutations of the ATPase 6 gene in lymphocytes, and mtDNA deletions and tRNALys and tRNALeu(UUR) mutations in muscles were excluded. CONCLUSIONS: Despite the fact that MSL is an entity normally found in adults, the possibility of its being diagnosed in the paediatric age must be taken into account. This case is probably the second time MSL has been observed associated with mitochondrial cytopathy in this age bracket.

Adolescent↗
PubMed2003

[Multiple symmetrical lipomatosis: report of two different clinical types and review of the literature].

Multiple symmetrical lipomatosis or Lauwnois-Bensaude disease is a rare entity characterized by the development of subcutaneous fat masses around the neck shoulders and upper extremities. Peripheral neuropathy is a common finding as well as the association with alcholism, hepatopathy and glucose intolerance. Pathogenesis is unknown. We describe three cases with two different clinical types and review the data reported in medical literature.

Alcoholism↗
PubMedDate not supplied

[Intestinal lipomatosis, cause of intestinal intussusception. A case report].

We report the case of a 32-year old female without previous illness. At hospital admission she reported having four days with clinical symptoms such as: intense abdominal pain, gastric vomit, and feces absence. At physical examination, mass in lower quadrant, non-mobile, and painless. Normal laboratory results. Abdominal radiologic studies and ultrasound with 10 x 12 cm mass. The patient was with acute appendicitis diagnosis and laparotomy was done. Transoperatory finding was: ileo-ileal necrotic intussusception. Intestinal resection and anastomosis were performed. Postoperatory evolution was normal. Pathologic study reported: multiple intestinal lipomatosis, mucous erosion, and acute inflammatory process. Frequency of this uncommon pathology is analyzed in the world literature.

Adult↗
PubMedDate not supplied

Colo-colic intussusception due to intestinal lipomatosis.

Lipomas of the small intestine are usually found incidentally; symptoms occur in less than one-third of affected patients, especially when lipomas are more than 2 cm in size. We report a 32-year-old man in whom intestinal lipomatosis resulted in colo-colic intussusception. These symptoms disappeared following operative resection of about 60 cm of ileum and ascending colon.

Adult↗
PubMed1992

[Benign symmetrical lipomatosis with predominant localization in the neck area (Madelung's disease)].

Eighty-eight males with benign symmetrical lipomatosis (BSL) were subjected to complex examination, 68 of them were operated on. BSL is a slowly progressing disease marked by the development of nonencapsulated symmetrical fatty masses mainly in the region of the neck. It usually occurs in males at the age of 35-50 years. Chronic alcoholic intoxication was found in 46 (48%) patients, 36 (41%) patients had various functional disorders which caused invalidation in 5 (5.7%) cases. A familial character of the disease was revealed in four (4.5%) cases. A classification of the disease is suggested which takes into account the functional disorders and the degree of development of the lipomatous masses in the neck. The author discusses the stages of the treatment, the surgical anatomy, a method for revealing the salivary glands in the lipomatous tissue by staining them with methylene blue solution, the operative techniques, the complications and their prevention, and the late results of surgical treatment. Satisfactory esthetic and functional results were achieved in 94.2% of patients who were operated on.

Adult↗