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Multiple symmetric lipomatosis: Madelung's disease.

INTERPRETATION OF IMAGES: Computed Tomography (CT) of the soft tissue of the head and neck showed symmetric, non-encapsulated adipose deposits in the buccal, posterior cervical neck, axillary regions and with significant oropharyngeal narrowing (Figure). There was no compression of the trachea. Further discussion with the patient revealed that the masses in his head and neck had been growing slowly over the past three years and demonstrated on previous images. The adipose deposits sparing the distal extremities in this patient were consistent with so-called Multiple Symmetric Lipomatosis (MSL), also known as Madelung's disease.

DISCUSSION

This condition occurs primarily in men, and is strongly associated with a history of alcoholism. (1) The pathogenesis is not fully understood, but recent evidence suggests that MSL results from defective noradrenergic regulation of mitochondria in brown fat. (2,3) Notably, the distribution of excessive adipose tissue in MSL mirrors the distribution of brown fat found in infants. The course of the disease is typically slow progressive growth of adipose deposits. MSL patients also commonly suffer from various neuropathies, especially paraesthesias and autonomic neuropathy. These neuropathies do not correlate with alcohol intake, and are believed to be an intrinsic aspect of the disease process. (4) MSL is also associated hyperuricemia and sleep apnea. (4,5) The most effective treatments for MSL is surgical: lipectomy, liposuction, or ultrasound-assisted liposuction. (6) Treatment indications include: sleep apnea, aerodigestive tract compression, neck pain, and/ or aesthetics. Alcohol cessation may help stop the progression of lipomatosis, but regression is rare. Even patients who cease alcohol intake or who were never alcoholics may see progression of the disease. (2,4)

Our patient's presentation with MSL was notable in that he was African-American. Only one case of MSL has previously been described in an African American. (7) MSL is believed to be most common in males of Mediterranean descent. (4) Additionally, while our patient's history of alcoholism and liver disease is consistent with past reports on MSL, his clinical presentation was complicated by his end stage renal disease, pulmonary hypertension and cardiomyopathy. His acute dyspnea and dysphagia resulted from airway compression due in part to the size of his facial and anterior cervical adipose deposits. A sleep study was warranted for this patient, as his oropharyngeal compromise was the cause if his sleep apnea, a known complication of MSL. (4,5) The presence of apnea could have contribute to his pulmonary hypertension.

There is often a long delay before diagnosis of MSL, which is often confused with obesity. However, MSL is a distinct clinical entity from obesity. Diagnosis is made clinically, based on the distribution of adipose tissue and also the patient's sex, age and history of alcohol use. CT or Magnetic Resonance Imaging (MRI) can confirm the presence of symmetrical un-encapsulated fat deposits in pre-surgical stage. (8)

REFERENCES

(1.) Foster DW. The lipodystrophies and other rare disorders of adipose tissue. In: Fauci AS, Braunwald E, Isselbacher KJ, Wilson JD, Martin JB, Kasper DL, Hauser SL, Longo DL(eds). Harrison's principles of internal medicine, 14th edn. McGraw-Hill: New York; 1998 pp 2209-2214.

(2.) C. Plummer, PJ. Spring, R. Marotta, J. Chin, G. Taylor, D. Sharpe, N.A. Athanasou, D. Thyagarajan, S.F. Berkovic. Multiple Symmetrical Lipomatosis: A mitochondrial disorder of brown fat. Mitochondrion, 2013 July; 13(4):269-276

(3.) Nisoli E, Regianini L, Briscini L, Bulbarelli A, Busetto L, Coin A, Enzi G, Carruba MO. Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. J Pathol. 2002 Nov;198(3):378-87.

(4.) Enzi G, Busetto L, Ceschin E, Coin A, Digito M, Pigozzo S. Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study. Int J Obes Relat Metab Disord. 2002 Feb;26(2):253-61.

(5.) Fonseca V, Alves C, Marques H, Camacho E, Saraiva A. Madelung's disease as a rare cause of obstructive sleep apnea. J Bras Pneumol. 2009 Aug;35(10):1053-1056.

(6.) Bassetto F, Scarpa C, De Stefano F, Busetto L. Surgical Treatment of Multiple Symmetric Lipomatosis With Ultrasound-Assisted Liposuction. Ann Plast Surg. 2013 May.

(7.) Sarhill N, Kumar A, Cook L, Tahir A, Barakat K. Madelung's Disease in an African-American Patient. Hospital Physician, 2006 Dec.

(8.) Ahuja AT, King AD, Chan ES, Kew J, Lam WW, Sun PM, King W, Metreweli C. Madelung disease: distribution of cervical fat and preoperative findings at sonography, MR, and CT. AJNR Am J Neuroradiol. 1998 Apr;19(4):707-10.

Matthew Brunner, MD; Enrique Palacios, MD, FACR Harold R. Neitzschman, MD, FACR; Jeremy Nguyen, MD

Matthew Brunner is a third year medical student at the Tulane University Health Sciences Center in New Orleans Louisiana; Dr Palacios is Section Chief of Neuroradiology and Clinical Professor of Otorhinolaryngology at Tulane University Health Sciences Center in New Orleans, Louisiana; Dr. Neitzschman was a professor of Radiology and the Chairman of the Department of Radiology at Tulane University Health Sciences Center in New Orleans, Louisiana; Donald Olivares is the Digital Imaging Specialist and Graphic Designer for the Department of Radiology at Tulane University Health Sciences Center in New Orleans, Louisiana.

Caption: FIGURE: CT examination post-contrast. (A and B) Axial sections of the upper and lower neck respectively revealed symmetrical non-encapsulated fat deposits with significant compromise of the airways (airway tube in-place). (C) Coronal section of the neck revealed symmetrical non-encapsulated lipomatosis in the posterior cervical spaces (tracheotomy tube in-place).
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Title Annotation:RADIOLOGY CASE OF THE MONTH
Author:Brunner, Matthew; Palacios, Enrique; Neitzschman, Harold R.; Nguyen, Jeremy
Publication:The Journal of the Louisiana State Medical Society
Article Type:Case study
Date:Mar 1, 2017
Words:892
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