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.

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.

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.

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.

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.

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.

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.

Application of lateral tarsoconjunctival flap to correct ocular complications of Madelung's disease: A case report and literature review.

RATIONALE: Madelung's disease is a specific type of benign symmetric lipomatosis, which is characterized by overgrowing fat distributed at the neck and shoulder. This excessive fat accumulation may occur in different regions, including vital organs, such as the larynx, trachea, or the orbits. Surgery is usually performed to correct the esthetic or functional concern of the affected area. There are only few case reports mentioned about the orbital involvement of this disease. This study aimed to describe a case of Madelung's disease with ocular complications and the successful treatment using tarsoconjunctival flap. PATIENT CONCERNS: A 90-year-old obese male presented with decreased visual acuity accompanied with severe band form punctate epithelial erosions and ciliary injections in both eyes. Exophthalmos and ectropion of the lower eyelids were observed. DIAGNOSES: Orbital computed tomography revealed a rare entity of Madelung's disease with significant massive deposits of lipomas located symmetrically around the orbit and neck region. INTERVENTIONS: Bilateral lateral tarsoconjunctival flaps with lateral tarsal strip procedures were performed to correct the lower eyelid ectropion-related exposure keratopathy. OUTCOMES: The patient obtained improved visual acuity, intact and clear corneal surfaces, and perfect lower eyelid positions over both eyes. LESSONS: Madelung's disease is a rare condition. There are few reports to describe its ocular complications, due to lipoma overgrowing in the orbit. We shared our successful experience to correct ocular complications using tarsoconjunctival flap technique.

A case of severe obstructive sleep apnoea in Madelung's disease treated by lateral pharyngoplasty.

BACKGROUND: Madelung's disease is a rare disorder characterised by the presence of multiple, symmetric, non-capsulated fat masses in the face, neck and other areas of upper extremities. In some cases, severe clinical complications such as upper airway compression can occur. CASE REPORT: A 56-year-old man affected by Madelung's disease complained of snoring and severe daytime sleepiness. Polysomnography revealed severe obstructive sleep apnoea. An attempt to treat sleep apnoea by continuous positive airway pressure failed because of poor compliance. Functional expansion pharyngoplasty was carried out as an initial treatment. Marked improvement of neck movements and normalisation of somnographic parameters were observed at six months' follow up. CONCLUSION: Patients with Madelung's disease should be examined carefully for potential obstructive sleep apnoea. Although continuous positive airway pressure remains the treatment of choice, specific surgery can be used in those patients who cannot tolerate continuous positive airway pressure therapy.

Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review.

Multiple symmetric lipomatosis is a rare disease characterized by a symmetrical accumulation of massive adipose tissue on the neck, the superior part of the trunk, and limbs. Here, we reported an extremely rare case of multiple symmetric lipomatosis in a 46-year-old Chinese man, who has a history of heavy drinking and smoking and presented with diffuse lipomatosis and bilateral breast enlargement. Hyperuricemia and impaired glucose tolerance test were all found in this patient. A brief review of the literature was also made in this article.