Sensory, Motor, and Autonomic Neuropathy in Patients with Multiple Symmetric Lipomatosis

Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study

“…This observation further proves that neuropathy in MSL is unrelated to elevated alcohol intake and has to be considered as a peculiar aspect of this disease. 10,11,34 A decrease in mielinated nervous fibres in peroneal nerve biopsies was first described in 1986 10 and later confirmed. 34 Several authors have reported on the association between MSL and mitochondrial dysfunction, mainly represented by a reduced cytochrome-C oxidase activity, ragged red fibres and multiple deletion in mitochondrial DNA.…”

“…of MCV and SCV of a group of age-matched control subjects previously studied at our institution. 10 Autonomic neuropathy was evaluated by the Valsalva manoeuvre, heart rate variations on deep breathing, RR-interval variation in electrocardiographic record during lying to standing manoeuvre, diastolic blood pressure increments in sustained handgrip and postural hypotension. A detailed description of the tests we used for the diagnosis of an impairment of cardiovascular autonomic reflexes in MSL has been published previously.…”

Differential clinical expression of multiple symmetric lipomatosis in men and women

“…An MCV of 44 m/s was assumed as the cutoff value for the diagnosis of motor neuropathy and an SCV of 43 m/s as the cutoff value for sensory neuropathy. 3 Autonomic neuropathy was evaluated by the Valsalva manoeuvre, heart rate variations on deep breathing, R-R interval changes at EKG during lying to standing manoeuvre, diastolic blood pressure increments in sustained handgrip and postural hypotension. 10 Finally, a selected set of laboratory examinations, including red blood cell count, liver function tests, blood glucose, total cholesterol and HDL cholesterol fraction, triglycerides and plasma uric acid, was performed.…”

“…Complications are represented by the extension of the lipomatous tissue to the mediastinum, with compression and infiltration of mediastinal structures, and by somatic and autonomic neuropathy. 2,3 The natural course of MSL was considered as slowly progressive, but a recent long-term longitudinal study demonstrated a significant disease-specific mortality, mainly explained by several cases of sudden death. 4 Since the first descriptions of the disease by Brodie, 5 Madelung 6 and Launois and Bensaude, 7 MSL was considered more prevalent in males, although different male-to-female ratios were reported.…”

Multiple Symmetric Lipomatosis

“…Indeed, autonomic neuropathy is frequent in MSL. 24 How can the abnormalities in complex IV and the mtDNA deletion in one patient be related to MSL? Lipolysis in all tissues requires a continu ous supply of energy in the form of ATP as well as a processing of fatty acids by ß-oxidation and the respiratory chain.…”