1/8. Newborn radial nerve palsy: report of four cases and review of published reports.Four newborns presented with isolated radial nerve palsy during the first 2 days of life. In three, there was a history of failure of progression of labor, which may have resulted in prolonged radial nerve compression. Furthermore, three infants had fat necrosis of the upper arm above the elbow, suggestive of compression of the radial nerve in the region of the spiral groove. Significant recovery of function was evident within 1 month in all four infants. The authors review published reports about the rare condition of isolated radial nerve palsy in the newborn.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/8. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.A-Type lamins, arising from the LMNA gene, are intermediate filaments proteins that belong to the lamina, a ubiquitous nuclear network. Naturally occurring mutations in these proteins have been shown to be responsible for several distinct diseases that display skeletal and/or cardiac muscle or peripheral nerve involvement. These include familial partial lipodystrophy of the Dunnigan type and the mandibuloacral dysplasia syndrome. The pathophysiology of this group of diseases, often referred to as laminopathies, remains elusive. We report a new condition in a 30-yr-old man exhibiting a previously undescribed heterozygous R133L LMNA mutation. His phenotype associated generalized acquired lipoatrophy with insulin-resistant diabetes, hypertriglyceridemia, hepatic steatosis, hypertrophic cardiomyopathy with valvular involvement, and disseminated whitish papules. Immunofluorescence microscopic analysis of the patient's cultured skin fibroblasts revealed nuclear disorganization and abnormal distribution of A-type lamins, similar to that observed in patients harboring other LMNA mutations. This observation broadens the clinical spectrum of laminopathies, pointing out the clinical variability of lipodystrophy and the unreported possibility of hypertrophic cardiomyopathy and skin involvement. It emphasizes the fact that the diagnosis of genetic alterations in A-type lamins requires careful and complete clinical and morphological investigations in patients regardless of the presenting signs.- - - - - - - - - - ranking = 0.125keywords = nerve (Clic here for more details about this article) |
3/8. Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report.A case of membranous lipodystrophy (ML) with peripheral polyneuropathy (PN) is described. A 40-year-old woman presented with dementia, multiple lytic bone lesions with typical membranous material in adipose tissues and neurophysiological and pathological findings of peripheral neuropathy. We describe the first case of ML with PN. It is interesting since nerve involvement might be an additional cause of symptoms usually attributed to bone lesions.- - - - - - - - - - ranking = 0.125keywords = nerve (Clic here for more details about this article) |
4/8. An unusual case of self-injected bovine fat in liquid form to the face for cosmetic reasons.A 45-year-old woman injected bovine fat in liquid form in to her periorbital area and nasolabial folds near the lip margin and glabellar area to look younger. She was influenced by a TV program about fat augmentation of the aging face and collagen injection to the wrinkles. Major depression had been diagnosed for this woman 5 years previously, after which she used antidepressants and hypnotics irregularly. The prolonged edema of her face subsided within 3 months, along with the erythema, itching, and firmness at the injection sites. No liposuction of the injected material was planned because it had changed to solid form as soon as it was injected. Additionally, it was thought that surgical excision of the fat would not be effective and could harm the facial nerve branches because magnetic resonance imaging showed diffuse enlargement of subcutaneous tissue. Therefore, a conservative approach, such as medical treatment with close follow-up evaluation was preferred. The reported case is presented not only to add an interesting self-injection case to the literature, but also to show that patients with psychological problems may harm themselves by using inappropriate methods for cosmetic reasons under the effect of inaccurate information obtained from TV programs, press, family, and friends.- - - - - - - - - - ranking = 0.125keywords = nerve (Clic here for more details about this article) |
5/8. Congenital generalized lipodystrophy associated with multiple sclerosis.We report the case of a 22 year old woman with congenital generalized lipodystrophy who presented a left brachiocrural pyramidal hemisyndrome, bilateral cerebellar signs and a left cranial nerve VI deficit. The clinical pattern had a tendency to regress. MRI brainscan, CSF examination and clinical features led to the diagnosis of "probable demyelinating syndrome". Published data on CNS involvement in patients with congenital generalized lipodystrophy are few and we have found no cases in which a demyelinating syndrome is associated. In the case we report it is tempting to see the disorder of the lipid metabolism underlying the congenital generalized lipodystrophy as underlying the myelin disorder as well.- - - - - - - - - - ranking = 0.125keywords = nerve (Clic here for more details about this article) |
6/8. Membranous lipodystrophy (Nasu disease): clinical and neuropathological study of a case.We report a sibling case of Nasu disease. A 35-year-old housewife, whose parents were consanguineous and whose sister died of the same disease, developed dementia, followed by bone fracture, incontinence and convulsions. She died at age 41. Pathologically, characteristic membranocystic changes of the fat cells in bone marrow and adipose tissues were observed. Neuropathologically, there was demyelination associated with intense gliosis and numerous axonal spheroids in the cerebral white matter. At the electron microscope level, these spheroids were an accumulation of various cell organelles. In addition, some had Hirano bodies. Incontinence was correlated with reduction of the number of nerve cells in Onuf's nucleus of the sacral cord.- - - - - - - - - - ranking = 0.125keywords = nerve (Clic here for more details about this article) |
7/8. Adipose cell morphology and control of lipolysis in a patient with partial lipodystrophy.A previously unreported patient with partial (cephalothoracic) lipodystrophy is described. Glucose tolerance and plasma lipids were normal, but plasma insulin increased to 340 muU/ml during an oral glucose tolerance test. plasma free fatty acids were appropriately suppressed by oral glucose, insulin, and nicotinic acid, and were increased by infusion of norepinephrine. The lipolytic responses was also normal in response to two stimuli for endogenous catecholamine release: upright posture and 2-deoxyglucose infusion. There was a gradual development of postural hypotension in response to upright posture despite appropriate reflex tachycardia. Anhidrosis was present over the lower half of the body during this test, in a distribution corresponding to the area of adipose tissue hypertrophy. Anhidrosis was also seen in this region in response to warm ambient temperature. Adipose cells from the atrophic area were smaller than those from the hypertropic area, but the atrophic cells were only 65% of the volume of the hypertrophic cells by two different methods. Thus, loss of cells occurred. Glucose-1(-14)C utilization and in vitro lipolysis were similar in the two cell preparations; the difference were explicable by cell size and did not suggest a metabolic abnormality. Counts of unmyelinated nerves were similar in the two areas. These findings indicate that in this patient the lipodystrophy was associated with normal fat cells and an autonomic dysfunction. However, the findings cannot completely explain the pathogenesis of her disorder. Loss of fat cells, rather than symmetrical shrinkage, occurred in the upper half of the body.- - - - - - - - - - ranking = 0.125keywords = nerve (Clic here for more details about this article) |
8/8. Myopathy in acquired partial lipodystrophy.We describe two women with acquired partial lipodystrophy, one with significant myopathic symptoms and signs. Muscle biopsy of deltoid and quadriceps was performed in each case. The light microscopy findings were of type 1 and type 2 fibre hypertrophy, with an increase in intracytoplasmic fat in both cases. Electron microscopy showed normal fibres, with accumulations of electron-lucent fat droplets between the myofibrils. The cause of the lipodystrophies is uncertain, but myopathy may be a feature, and muscle biopsy studies may help in further defining the syndrome.- - - - - - - - - - ranking = 10.870353696406keywords = fibre (Clic here for more details about this article) |