Madelung's disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report.

BACKGROUND: Madelung's disease (MD) is a rare disorder of fat storage characterized by the presence of diffuse, symmetrical deposition of subcutaneous fat around the neck, shoulder, arm, trunk and thigh. Although its cause is not fully understood, this benign condition is commonly presented among adult males with Mediterranean origin and history of alcohol abuse. Patients often presents with compression of vital structures, cosmetic disfigurement and associated psychosocial problems and systemic comorbidities. It is often under-recognized by physicians, possibly due to obliviousness of the condition and often misdiagnosed as obesity. CASE PRESENTATION: We present a 65-year-old non-alcoholic black Ethiopian man, presented with a slowly growing body fat in his trunk and proximal limbs associated by multiple joint and back pain which got worse recently. He denied any history of chronic alcohol use. On examination, huge, bilateral, non-tender, soft, globular masses in his torso, shoulder, arm and thigh with bilateral breast enlargement. On investigation his biochemical profile was normal except hyperuricemia (10.6 mg/dl). Imaging of the cervical and lumbar vertebrae showed excess subcutaneous fat depositions with degenerative disc disease. Biopsy from the mass revealed non-encapsulated lipoma and he was diagnosed with type II MD. We treated his pain with supportive therapy and discharged in stable condition. The patient deferred surgical treatment. CONCLUSIONS: Madelung's disease is often reported among white adult males with chronic alcoholism. However, our case reported a black man without the typical risk factor which was misdiagnosed as obesity. Hence, clinicians should be aware of MD and need to consider it in their differential diagnosis when encountered with a patient having progressive centripetal fat deposition with or without a history of alcoholism and systemic comorbidities. As early detection of this disorder helps to avoid diagnostic delays and prevent complications through timely interventions which will in turn improves patient quality of life.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Multiple symmetric lipomatosis (MSL) is a mitochondrial disorder with impaired brown fat metabolism that has been associated with MERRF mutations in some, but not all, patients. We studied a sibling pair and an unrelated indiviadual who presented with MSL and neuropathy to determine the genetic etiology of this disorder in patients who did not carry the MSL-associated MERRF mutation. Whole-exome sequencing was performed on the siblings, and a rare, shared homozygous mutation in MFN2 (c.2119C>T: p.R707W) was identified. The mutation was not present in their healthy siblings. In silico programs predict it to be pathogenic, and heterozygous carriers of the MFN2 p.R707W substitution are known to have Charcot-Marie-Tooth (CMT) disease. A third, unrelated patient with multiple symmetrical lipomatosis and neuropathy also harbored the same homozygous mutation and had been previously diagnosed with CMT. Functional studies in patient fibroblasts demonstrate that the p.R707W substitution impairs homotypic (MFN2-MFN2) protein interactions required for normal activity and renders mitochondria prone to perinuclear aggregation. These findings show that homozygous mutations at p.R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis.

[Perioperative Airway Management in a Patient with Madelung's Disease: A Case Report].

Madelung's disease is a rare disorder characterized by multiple, symmetric fatty tissues. The patient, 72-year-old man was admitted to our hospital for abdominal surgery for liver cancer. He had extreme fatty accumulations involving head and neck. We expected difficult airway because of his fatty tissues, and we perfomed awake intubation by Airway Scope. We confirmed the airway by using tube exchanger at extubation. We should choose a proper airway management technique to reduce the incidences of airway complications.

Multiple symmetric lipomatosis: a rare disease and its possible links to brown adipose tissue.

AIM: Aim of this study is an updated review of our case series (72 patients) as well as available literature on the Multiple Symmetric Lipomatosis (MSL), a rare disease primarily involving adipose tissue, characterized by the presence of not encapsulated fat masses, symmetrically disposed at characteristic body sites (neck, trunk, proximal parts of upper and lower limbs). DATA SYNTHESIS: The disease is more frequent in males, associated to an elevated chronic alcohol consumption, mainly in form of red wine. Familiarity has been reported and MSL is considered an autosomic dominant inherited disease. MSL is associated to severe clinical complications, represented by occupation of the mediastinum by lipomatous tissue with a mediastinal syndrome and by the presence of a somatic and autonomic neuropathies. Hyper-alphalipoproteinemia with an increased adipose tissue lipoprotein-lipase activity, a defect of adrenergic stimulated lipolysis and a reduction of mitochondrial enzymes have been described. The localization of lipomatous masses suggests that MSL lipomas could originate from brown adipose tissue (BAT). Moreover, studies on cultured pre-adipocytes demonstrate that these cells synthetize the mitochondrial inner membrane protein UCP-1, the selective marker of BAT. Surgical removal of lipomatous tissue is to date the only validated therapeutic approach. CONCLUSIONS: MSL is supposed to be the result of a disorder of the proliferation and differentiation of human BAT cells.

Could Madelung disease be a cause of stroke? A rare case report.

Multiple symmetric lipomatosis (MLS), also known as Launois-Bensaude syndrome or Madelung disease, is a rare metabolic condition characterized by generally symmetrical, non-encapsulated fat accumulations in the patient's body.

Madelung's disease associated with polyneuropathy and symptomatic hypokalemia.

Madelung's disease (multiple symmetric lipomatosis) is a rare disease characterized by abnormal diffuse lipomatosis in proximal upper limbs and neck. Previous reports have shown that this disease is associated with alcoholism, polyneuropathy, mitochondrial disease, and glucose intolerance. Here, we describe a 46-year-old man having Madelung's disease associated with polyneuropathy and symptomatic hypokalemia. He presented with insidious-onset weakness and numbness in lower limbs for 7 years and recent deterioration of symptoms. Proximal weakness improved with potassium supplement. Our observation may extend the phenotype of Madelung's disease to hypokalemic periodic paralysis.

Shedding Light on Multiple Symmetric Lipomatosis: An Overlooked Syndrome in the Evaluation of Obesity.

BACKGROUND Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome, is a rare syndrome that is frequently misinterpreted as simple obesity. It has seldom been reported. Both conditions can coexist; however, unlike common obesity, in which total body fat is well distributed, patients affected by MSL present with symmetrical, painless fat masses that predominantly appear in the face, neck, occipital region and supraclavicular fossa. Launois-Bensaude syndrome's etiology is still poorly understood but an association with alcohol use has been documented. CASE REPORT A 49-year-old woman was referred to our department due to class II obesity (body mass index of 39.8 kg/m²). She had a history of arterial hypertension and daily wine consumption (2 glasses on average). She complained of weight gain after menopause and she reported having tried multiple times to lose weight by herself without success. On physical examination, the patient had an unusual pattern of fat distribution: exuberant symmetrical fat masses that were localized in her arms and thighs and spared her face, neck, forearms, and lower legs. She claimed that these masses had a rapid onset and then stabilized. The clinical history and the patient's phenotype were compatible with a non-classic type of Launois-Bensaude syndrome. CONCLUSIONS We concluded that our patient's condition encompasses more than just simple obesity; it involved a distinct form of adiposopathy that led to a completely different clinical approach. A detailed physical examination seems to be key for clinical suspicion of this rare syndrome, which can be a true pitfall in obesity evaluation.

Prevertebral fat in Madelung disease mimicking cervical spine injury: A case report.

Madelung disease is defined by multiple symmetric fatty accumulations, usually involving the upper trunk, and may sometimes have excessive fat deposition in the prevertebral space. On magnetic resonance imaging (MRI), findings of fat that are hyperintense on T1w and T2w images, may simulate subacute hematoma and mimic cervical spine injury. This is the first reported case of Madelung disease with prevertebral fat deposition mimicking prevertebral hematoma found in cervical spine injury on MRI. Fat suppression techniques are helpful in order to differentiate between these two conditions, which should be taken into consideration during routine clinical practice.

Cardiac noradrenergic denervation in a patient with multiple symmetric lipomatosis.

INTRODUCTION: Multiple symmetric lipomatosis (MSL) is a rare disease of unknown etiology characterized by multiple subcutaneous lipomas with a symmetrical distribution. One interesting aspect about MSL is a high incidence of sudden cardiac death despite a low incidence of metabolic syndrome and coronary arterial disease. Autonomic nervous system dysfunction may probably explain this feature of MSL. CASE REPORT: A 74-year-old man was admitted with acute heart failure and atrial fibrillation. He had a morphotype suggestive of MLS. A (123)I-metaiodobenzylguanidine myocardial scintigraphy was conducted for evaluation of cardiac autonomic nervous integrity, since atrial fibrillation precluded the classical approach. The heart-to-mediastinum ratio was 1.68 (normal >2.2). Ischemia was not detected in myocardial perfusion scintigraphy. CONCLUSION: We present the first reported case of MSL autonomic neuropathy detected by (123)I- metaiodobenzylguanidine scintigraphy and suggest that this approach could play a role in MSL stratification by risk of sudden cardiac death and in exploring MSL disease mechanisms.

Madelung's Disease as an Example of a Metabolic Disease Associated with Alcohol Abuse-Diagnostic Importance of Computed Tomography.

Madelung's disease is a rare metabolic disorder characterized by a symmetrical accumulation of nonencapsulated adipose tissue deposits, mainly around the head, neck and shoulders. Fat deposits can grow and put pressure on other organs causing a variety of symptoms, inter alia, dysphagia, breathing difficulties, neck stiffness and headache. Madelung's disease is often accompanied by other disorders such as diabetes, hypertension, hypothyroidism, or liver disease. In addition to somatic issues, mental health problems may also develop causing social exclusion and depression. Middle-aged men with a history of alcohol abuse are the most commonly affected. Various imaging techniques, including computed tomography (CT), are helpful in stating the diagnosis. This paper presents a case of a 33-year-old man with extensive adipose tissue overgrowth around neck and chest. CT-enhanced scans with multiplanar reconstruction (MPR) and volume rendering technique (VRT) reconstruction are also included.

Is There any Link between Madelung Disease and Ischemic Stroke? A Case Report.

A 70-year-old man presented to the Emergency Department with left hemiparesis, slurred speech, and elevated blood pressure. A brain computed tomography scan revealed an ischemic lesion in the right frontal and parietal lobes. At clinical examination bilateral pseudo gynecomastia was detected together with the presence of multiple elastic, adipose bulging masses on the neck, trunk, and upper limbs. A type I-II Lanois-Bensaude syndrome was diagnosed. Ultrasonography confirmed their adipose nature. Multiple symmetric lipomatosis, also known as Lanois-Bensaude syndrome or Madelung disease, is a very rare condition with extreme variability in its clinical presentation. The simultaneous occurrence of ischemic stroke and lipomatosis in the same patient might be due to a mitochondrial function impairment, which could lead to abnormal fat tissue distribution and defective cellular energy production, thus resulting in neuronal sufferance and death. The possibility that, in our case, lipomatosis could have represented a further risk factor in promoting the stroke occurrence is discussed. In our opinion, multiple symmetric lipomatosis must be carefully evaluated to improve the patients' quality of life.

Proptosis of the eye: a potential form of Madelung's disease.

Madelung's disease is a rare disorder characterised by excessive and symmetrical deposits of adipose tissue, typically in the cervicofacial region. Alcohol is a known cause of the condition, however, there are reports that this condition is genetically inherited. Lipomatosis of the orbit has been described in the alcoholic Madelung's disease, however, in our case report, we believe this is the first reported instance of proptosis caused by the genetic form of the condition. We present a 69-year-old woman, with a medical history of genetic Madelung's disease, who presented with bilateral proptosis worse in her right eye. Her ocular examination was normal apart from exophthalmometry, showing bilateral proptosis. This was confirmed by an MRI, which further showed intraorbital fat deposition bilaterally. Due to the stability of her condition, no treatment was deemed necessary. We highlight the importance of monitoring for progressive optic nerve compromise and liposarcomatous malignant transformation.

Multiple symmetric lipomatosis with secondary laryngeal obstruction: A case report.

INTRODUCTION: Multiple symmetric lipomatosis (MSL) is an uncommon medical condition characterized by symmetric fat accumulation mainly in the neck and other upper body regions. The involvement of the larynx is rare according to the literature, and we present a case of MSL with larynx involvement treated with a surgical approach. PATIENT CONCERNS: A 55-year-old male was admitted to our hospital due to progressively aggravated breathing difficulty, and tracheotomy was performed before transfer. When he tried to block the cannula, the breathing difficulty returned. The patient's neck had been thickening for the past 2 years. DIAGNOSIS: Pathological examination confirmed the diagnosis of MSL. INTERVENTIONS: The patient underwent lumpectomy and neck exploration. OUTCOMES: The lipoma was removed, the patient was free of any dyspnea symptoms and recovered well, and the tracheal cannula was removed at a local hospital. CONCLUSION: MSL can infiltrate the larynx and grow into the preepiglottic space and paraglottic spaces, resulting in breathing difficulties. Lipomas present in the spaces described above must be removed at the same time; otherwise, symptoms of dyspnea cannot be alleviated.

A case of Madelung's disease presenting with obstructive sleep apnea.

Madelung's disease is a rare condition characterized by diffuse, multiple, symmetric, nonencapsulated fatty accumulation predominantly in the neck and upper trunk, which can predispose to obstructive sleep apnea. This case report involves a 51-year-old man affected by Madelung's disease who complained of difficulty breathing and inability to sleep in a supine position. An overnight pulse oximetry was performed, and the result was suggestive of moderate to severe obstructive sleep apnea. After auto-titrating continuous positive airway pressure therapy, the patient was prescribed continuous positive airway pressure therapy at the pressure setting of 13 cm of water. Alcohol cessation was also advised. At the 6-month follow-up visit, a marked improvement in neck cosmetic appearance and alleviation of sleep disturbance-related symptoms were observed. Polysomnography finally confirmed the diagnosis of severe obstructive sleep apnea. This case illustrates that a patient with Madelung's disease may present with a clinical presentation of obstructive sleep apnea, which should be promptly diagnosed. Continuous positive airway pressure remains the treatment of choice.

Madelung's disease and pulmonary aspergillosis: a case report and literature review.

BACKGROUND: Madelung's disease (MD) is a rare disorder of fat metabolism, which is usually associated with diabetes, hyperuricemia, liver disease, nevertheless there is no report of a patient with MD and pulmonary aspergillosis (PA). This article aimed to enhance the awareness of this two diseases and discuss the possible mechanism of the combination of them preliminarily. CASE PRESENTATION: In this case, we described a 56-year-old male patient with cough, expectoration and dyspnea. His neck has a very peculiar appearance. Chest enhanced CT scan showed there were multiple nodules in both lungs, some of which had cavities and the mediastinal lymph nodes were swollen. Ultrasound scan of the neck showed diffuse hyperplasia of subcutaneous fat in neck and bilateral supraclavicular fossa. Fortunately, after performing pulmonary wedge resection aimed at pathological examination and giving relevant treatments, this patient was finally diagnosed as MD with PA, and his symptoms were significantly relieved. CONCLUSIONS: MD is rare, the phenomenon that MD combined with PA is rarer. Immune disorder may be the possible mechanism.

Unusual cases of multiple symmetrical lipomatosis with neurological disorders.

Multiple symmetrical lipomatosis (MSL) is a rare disorder of unknown etiology defined as the presence of multiple and symmetrical fatty accumulations, usually involving the upper trunk, neck and head. Frequently associated findings include diabetes mellitus, hyperlipidemia, liver disease, hypothyroidism and polyneuropathy of unknown origin, but nevertheless, there are published reports of cognitive disorders in patients with MSL. We describe two unusual cases (38-year-old and 45-year-old Greek men) of MSL who presented with polyneuropathy and memory disorders. This is the first description of memory disorders in patients with MSL. We propose that Mini-Mental State Examination and assessment of cognitive functions should be performed for all patients with MSL. The underlying mechanism in our patients remains unknown, and this question should be the subject of a future study.

Surgical correction of Madelung's deformity by combined corrective radioulnar osteotomy: 14 cases with four-year minimum follow-up.

Fourteen wrists in 11 girls, mean age 13.3 years (range 9-16) at surgery, were treated for Madelung's deformity. The presenting complaint was incapacitating pain. All were treated by radial closing wedge osteotomy and ulnar shortening osteotomy. The dorsal retinaculum was also surgically repaired in six cases. At a mean follow-up of 5.1 years (range 4-8.75), we observed improved range of motion in both flexion/extension and pronation/supination and absence of pain during daily activity. Radiographically, positioning of the distal radial articular surface and lunate subsidence were improved. Union was obtained after all osteotomies without secondary procedures. Posterior displacement of the ulnar head persisted in two wrists. Combined radioulnar osteotomy restored the anatomy to as near normal as possible. This technique provides satisfactory and encouraging results and does not compromise the surgical future of the wrist. However, longer follow-up is required to assess recurrence or possible long-term degenerative consequences.

Madelung's Disease Leading to Presenile Dementia in a Non-alcoholic Patient.

INTRODUCTION: Madelung's disease (MD) is a rare disorder of unknown etiology defined as the presence of multiple and symmetrical fatty accumulations most commonly involving the upper trunk, neck, and head. Excessive alcohol ingestion has been linked traditionally to the pathogenesis of the disease. The central and peripheral nervous system could both be affected. Presenile dementia, without alcohol abuse, has been rarely reported in the literature as a complication. AIM: The aim of this case report is to highlight that multiple symmetric lipomatosis can be complicated by presenile dementia even if the patient is non-alcoholic. CASE REPORT: This case report describes a middle age non-alcoholic woman who presented for increased forgetfulness. Brain CT scan showed cerebral and cerebellar atrophy inappropriate for her age. Despite being started on anticholinergic drug, her MMSE decreased 3 points in 1 year. CONCLUSION: Clinicians should consider early onset dementia as a potential complication of Madelung's disease even in patients with no preceding history of alcoholism. A brain MRI and MMSE can aid with identifying such a complication.