scholarly journals Case Report: A Rare Association of Diffuse Thyroid Lipomatosis with Amyloid Deposition

2021 ◽  
pp. 1-5
Author(s):  
Daniela Rodrigues Cavaco ◽  
Ana Alves Rafael ◽  
Rafael Cabrera ◽  
Helena Vilar ◽  
Valeriano Leite
Keyword(s):  
Thyroid Gland ◽  
Fatty Infiltration ◽  
Rare Condition ◽  
Final Diagnosis ◽  
Amyloid Deposition ◽  
Unknown Etiology ◽  
Diffuse Infiltration ◽  
Microscopic Appearance ◽  
Diffuse Goiter ◽  
History Of

Diffuse thyroid lipomatosis is a rare histopathological condition of unknown etiology, characterized by diffuse fatty infiltration of the thyroid stroma, which can result in diffuse goiter with compressive symptoms. We report a case of a 46-year-old man with 1-year history of progressive goiter enlargement with compressive symptoms. Imaging studies revealed multiple coalescent nodules. The patient underwent surgery, and the microscopic appearance revealed a diffuse infiltration of thyroid stroma by mature adipose tissue with associated amyloid deposition. A final diagnosis of diffuse lipomatosis of the thyroid gland was established. This patient represents one of the few reported cases of diffuse lipomatosis with coexisting deposition of amyloid protein of the thyroid gland and contributes to the better understanding of this extremely rare condition.

scholarly journals SUN-605 Mediastino-Abdominal Lipomatosis: Deep Accumulation of Fat Mimicking a Respiratory Disease

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ricardo Rafael Correa ◽  
Ghada Elshimy ◽  
Mahmoud Alsayed
Keyword(s):  
Healthy Lifestyle ◽  
Macrocytic Anemia ◽  
Final Diagnosis ◽  
Definitive Treatment ◽  
Unknown Etiology ◽  
Exertional Dyspnea ◽  
Low Fat Diet ◽  
Ct Angiogram ◽  
The Face ◽  
History Of

Abstract Introduction: Multiple systemic lipomatosis (MSL) is a rare disorder with unknown etiology. It is characterized by the massive development of non-encapsulated lipomas in subcutaneous tissues. Lipomatosis of the face, head, neck, extremities, abdomen, and pelvis have been reported in the literature. Case: We report a case of a 65 years old female (BMI: 34 kg/m2) with past medical history of hypertension, hyperlipidemia(DLD) diabetes mellitus type 2 and sleep apnea that was brought into emergency room (ER) for worsening shortness of breath. In the ER, she was having an oxygen saturation of 75% and required intubation. The patient was afebrile, with a BP of 120/75 mm Hg and a heart rate of 70/minute. Trans-thoracic echocardiogram revealed normal ejection fraction and normal pulmonary pressure with no wall motion abnormality. CXR showed no infiltration or consolidation. CT angiogram (CTA) ruled out pulmonary embolism but it was notable for large deposits of fat involving the abdomen and thorax, with invasion into the mediastinum and the space between the liver and diaphragm. Mesenteric fat was increased. Tissue was biopsied, which confirmed the diagnosis of fatty invasion. Discussion: Abdominal lipomatosis is characterized by massive enlargement of the abdomen due to intraperitoneal and retroperitoneal fatty deposits. Phenotypically patients can appear to be thin or obese, however, it is more common in the overweight population like our patient. Mediastinal lipomatosis is a benign cause of mediastinal widening, however patients can develop respiratory symptoms like exertional dyspnea due to compression of airways. MSL affects white caucasian between 25-60 years old and it is associated with DLD, impaired glucose tolerance, hyperuricemia, macrocytic anemia, and peripheral neuropathy. The pathophysiology is not fully understood, some theories stated that it is related to defective lipid mobilization in lipomatocytes, other suggested disorder in the mitochondria of brown fat. Conclusion: CT and MRI of the abdomen and chest are very helpful in the diagnosis of MSL but a tissue biopsy is what makes the final diagnosis. There is no definitive treatment; the recommendations are a healthy lifestyle including a low-fat diet, abstinence from alcohol and exercise. In severe cases, surgery is recommended.

scholarly journals Symmetric Lipomatosis Arising in the Tongue Presenting as Macroglossia and Articulatory Disorder

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Masanori Kudoh ◽  
Ken Omura ◽  
Arata Satsukawa ◽  
Koshi Matsumoto ◽  
Takahide Taguchi ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Speech Intelligibility ◽  
Rare Case ◽  
Rare Condition ◽  
Chronic Alcoholism ◽  
Diffuse Infiltration ◽  
Mature Adipose Tissue ◽  
Resected Tumor ◽  
History Of ◽  
Partial Glossectomy

Symmetric lipomatosis is definitively characterized by symmetric, tumorous lipomatous proliferation of adipose tissue that often develops in the head and neck, shoulders, and upper trunk. However, in the oral region, symmetric lipomatosis of the tongue (SLT) is an extremely rare condition related to generalized lipidosis that is often caused by chronic alcoholism. It is characterized by multiple symmetric lipomatous nodules and diffuse bilateral swelling located within the tongue. We report an extremely rare case of SLT arising in an 80-year-old man with a long history of alcoholic liver cirrhosis. He exhibited multiple soft nodular protrusions on the bilateral margin of the tongue presenting as macroglossia for years. Although MR imaging showed multiple fatty masses on both sides of the tongue, there was no elevated tumor mass on the bilateral margin. The patient underwent bilateral partial glossectomy under general anesthesia. Histopathologically, the resected tumor exhibited diffuse infiltration with mature adipose tissue lacking a fibrous capsule. Due to the lipidosis and the unusual presentation of multiple lesions, the lesion was ultimately diagnosed as SLT. At present, after surgery, the patient wears a full-denture and is in excellent condition, with no sign of recurrence, improved QOL, and recovery of masticatory, articulatory, and speech intelligibility functions.

scholarly journals Tolosa-Hunt: Case Report

2021 ◽  
Author(s):  
Lília Tereza Diniz Nunes ◽  
Flávia S. Silva ◽  
Karyme G. Aota ◽  
Maria Beatriz Miranda S. B. de Assis ◽  
João Fellipe B. Bento ◽  
...  
Keyword(s):  
Case Report ◽  
Cavernous Sinus ◽  
Clinical Care ◽  
Cranial Nerves ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Specific Diagnosis ◽  
Hunt Syndrome ◽  
Diagnosis By Exclusion ◽  
History Of

Context: Tolosa-Hunt Syndrome (STH) is a rare condition with unknown etiology, it affects both genders equally. It is manifested by inflammation of the cavernous sinus and involvement of some cranial nerves pairs. Case report: MSR, 39 years, male, diver in the mining zone, history of recurrent otitis with acute pain and gradual hearing loss that progressed. He was admitted to the General Hospital of Palmas with symptoms of retrorbital headache. After physical exams it was found an ophthalmoplegia with right amaurosis and ipsilateral pain. The neurological examination showed a right eye with loss of photomotor reflex and presence of consensual reflex and eyelid ptosis. After 38 days in hospital, a probable septic thrombosis of the cavernous sinus was found, antibiotic and corticosteroids therapy was initiated. The patient also reports significant improvement in headache and partially in vision, he is currently hospitalized with clinical care and antibiotic therapy, awaiting results of the image examination report. Conclusions: Painful ophthalmoplegia in most cases is not diagnosed as STH. The differential diagnosis for this pathology is most often through brain magnetic ressonance and the ICHD-3 beta diagnostic criteria, STH should be suspected, but it is still necessary to close the diagnosis by exclusion, due to the lack of a specific diagnosis.

scholarly journals Eagle’s Syndrome: Transoral Styloidectomy a Technique Modification Case Report

2020 ◽  
Vol 4 (3) ◽  
Keyword(s):  
Correct Diagnosis ◽  
Rare Condition ◽  
Signs And Symptoms ◽  
Styloid Process ◽  
Unknown Etiology ◽  
Eagle’S Syndrome ◽  
Anatomical Structures ◽  
History Of ◽  
Eagle Syndrome ◽  
Sixth Decade

Eagle’s Syndrome is a rare condition with unknown etiology that mainly affects female patients between the third and sixth decade of life. It was first described in 1937 by Dr. Watt W. Eagle, in a study carried out in a group of patients whose main symptom was cervicopharyngeal pain caused by elongation of the styloid process and/or calcification of the stylohyoid ligament [1]. The diagnosis of this pathology is based on the anamnesis and physical examination together with imaging exams of the patients. Cervicofacial pain, palpation of the styloid process in the tonsillar fossa and limitation in neck mobility are the most classic signs and symptoms of this disease [2]. Due to the nonspecific symptoms present in these patients, this disease is usually underdiagnosed and confused with temporomandibular disorders, cervical myalgias, and even being diagnosed as atypical trigeminal neuralgias [3]. For this reason, clinical examination and imaging exams, are indispensable for the correct diagnosis and evaluation of anatomical structures [3]. We present a case of a woman with a history of eagle syndrome which was diagnosed and treated at the Hospital clinico metropolitano El Carmen Santiago, Chile.

scholarly journals Leukocyte Cell-Derived Chemotaxin 2-Associated Renal Amyloidosis: A Case Report

2017 ◽  
Vol 7 (2) ◽  
pp. 121-129 ◽  
Author(s):  
Gagandeep Kaur ◽  
Babitha Bijin ◽  
Kamron Saleem ◽  
Benjamin Sarsah ◽  
Bijin Thajudeen
Keyword(s):  
Renal Biopsy ◽  
Amyloid Deposition ◽  
Renal Amyloidosis ◽  
Intravenous Contrast ◽  
Urine Sediment ◽  
Diffuse Infiltration ◽  
Liquid Chromatography Tandem Mass ◽  
History Of ◽  
Stage Renal Disease ◽  
End Stage

Amyloidosis is a disorder characterized by the deposition of abnormal protein fibrils in tissues. Leukocyte cell-derived chemotaxin 2-associated amyloidosis is a recently recognized entity and is characterized by a distinctive clinicopathologic type of amyloid deposition manifested in adults by varying degrees of impaired kidney function and proteinuria. There are only a limited number of cases reported in the literature. We present a 64-year-old Hispanic female with a history of hypertension who was referred for chronic kidney disease management. The review of her laboratory tests revealed a serum creatinine of 1.5–1.8 mg/dL and microalbuminuria (in the presence of a bland urine sediment) in the past year. She denied any history of diabetes, rheumatologic disorders or exposure to intravenous contrast, nonsteroidal anti-inflammatory drugs, herbals, and heavy metals. Serological workup was negative. A renal biopsy showed diffuse infiltration of glomerulus with pale eosinophilic material strongly positive for Congo red stain and a similar eosinophilic material in the interstitium, muscular arteries, and arterioles. Electron microscopy showed marked infiltration of the mesangium, capillary loops, and interstitium with haphazardly arranged fibrillary deposits (9.8 nm thick). Liquid chromatography tandem mass spectrometry confirmed leukocyte cell-derived chemotaxin 2 (LECT2) amyloid deposition. LECT2 amyloidosis (ALECT2) should be suspected in renal biopsy specimens exhibiting extensive and strong mesangial as well as interstitial congophilia. Individuals with LECT2 renal amyloidosis have a varying prognosis. Therapeutic options include supportive measures and consideration of a kidney transplant for those with end-stage renal disease.

Aphthous Vulvar Ulcers in Adolescent Girls: Case Report and Review of the Literature

2010 ◽  
Vol 14 (1) ◽  
pp. 33-37 ◽  
Author(s):  
Kimberly Lai ◽  
Emily Lambert ◽  
Mary Gail Mercurio
Keyword(s):  
Adolescent Girls ◽  
Sexual Transmission ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Aphthous Ulcers ◽  
Common Causes ◽  
History Of ◽  
Systemic Symptoms ◽  
False Accusations

Background: Aphthous vulvar ulcers are painful ulcerations on the genital mucosa frequently accompanied by systemic symptoms. They are most commonly reported in young women and adolescents without a history of sexual contact. Diagnosis is made by exclusion of more common causes, and treatment for this self-limited condition is mainly symptomatic. Objective: Clinicians should be aware of this rare condition to avoid misdiagnoses and unwarranted investigations into sexual abuse or false accusations of sexual activity. Methods: We report a case of an 11-year-old girl with systemic symptoms and vulvar ulcers of unknown etiology. Results: The patient's illness was consistent with previous reports that vulvar ulcers can occur without sexual transmission or a documented infectious cause. Conclusion: A lack of general knowledge regarding this entity may lead to its exclusion from the differential diagnosis of vulvar ulcers in this patient population. Aphthous ulcers should be strongly considered in any adolescent with vulvar ulcers.

scholarly journals Erosive pustular dermatosis of the scalp - is it really a rare condition?

2014 ◽  
Vol 71 (3) ◽  
pp. 307-310 ◽  
Author(s):  
Olivera Levakov ◽  
Branislava Gajic
Keyword(s):  
Infectious Agent ◽  
Rare Condition ◽  
The Elderly ◽  
Unknown Etiology ◽  
Topical Steroids ◽  
Physical Trauma ◽  
Scarring Alopecia ◽  
Clinical Presentations ◽  
Local Trauma ◽  
History Of

Introduction. Erosive pustular dermatosis of the scalp (EPDS) is a rare disorder of unknown etiology that usually occurs in the elderly and is characterized by multiple pustules, erosions and crusts that appear on the scalp leading to scarring alopecia. The histopathology and laboratory tests are not specific which is the reason that EPDS is a frequently misdiagnosed condition. Case report. We presented two patients with EPDS. The first patient had the known history of local trauma, both patients had chronic recidivant process, classic clinical presentations, and nonspecific histological findings. Each patient had prompt therapeutical response to potent topical steroids. Conclusion. The diagnosis of EPDS can be made if a condition fulfills the following criteria: atrophic or actinic damaged skin, clinical association of erosions, pustules, scales and crusts, no specific histopathology, no infectious agent found responsible for the condition, and chronic course leading to scarring alopecia, and prompt response to the treatment with topical steroids. The history of chemical or physical trauma is often present.

Segmental thoracic lipomatosis of nerve with nerve territory overgrowth

2014 ◽  
Vol 120 (5) ◽  
pp. 1118-1124 ◽  
Author(s):  
Mark A. Mahan ◽  
Kimberly K. Amrami ◽  
B. Matthew Howe ◽  
Robert J. Spinner
Keyword(s):  
Peripheral Nerves ◽  
Fatty Infiltration ◽  
Rare Condition ◽  
Spinal Nerves ◽  
Fibrolipomatous Hamartoma ◽  
Scoliotic Deformity ◽  
Lipomatosis Of Nerve ◽  
Thoracic Spinal ◽  
History Of ◽  
Hands And Feet

Lipomatosis of nerve (LN), or fibrolipomatous hamartoma, is a rare condition of fibrofatty enlargement of the peripheral nerves. It is associated with bony and soft tissue overgrowth in approximately one-third to two-thirds of cases. It most commonly affects the median nerve at the carpal tunnel or digital nerves in the hands and feet. The authors describe a patient with previously diagnosed hemihypertrophy of the trunk who had a history of large thoracic lipomas resected during infancy, a thoracic hump due to adipose proliferation within the thoracic paraspinal musculature, and scoliotic deformity. She had fatty infiltration in the thoracic spinal nerves on MRI, identical to findings pathognomonic of LN at better-known sites. Enlargement of the transverse processes at those levels and thickened ribs were also found. This case appears to be directly analogous to other instances of LN with overgrowth, except that this case involved axial nerves rather than the typical appendicular nerves.

scholarly journals Epehólyag-agenesia. Epekövességet utánzó ritka rendellenesség egy felnőtt nőben

2019 ◽  
Vol 160 (38) ◽  
pp. 1510-1513
Author(s):  
Călin Molnar ◽  
Tibor Sárközi ◽  
Cedric Kwizera ◽  
Marian Botoncea ◽  
Opriș Zeno ◽  
...  
Keyword(s):  
Rare Case ◽  
Medical Literature ◽  
Rare Condition ◽  
Magnetic Resonance Cholangiopancreatography ◽  
Final Diagnosis ◽  
Biliary Colic ◽  
Caucasian Woman ◽  
Imaging Studies ◽  
History Of ◽  
Gallbladder Agenesis

Abstract: Gallbladder agenesis is a rare congenital malformation due to an embryological defect of the biliary system. In most cases it is asymptomatic, but it can also mimic biliary colic. We report the case of a 72-year-old Caucasian woman with a medical history of cardiovascular disease and hypercholesterolemia, under cholesterol-lowering and hypotensive treatment, who presented symptoms suggesting biliary colic. She underwent laparoscopic surgery that confirmed the final diagnosis. We present our approach in this rare case as well as a brief review of medical literature. The surgeon should decide intraoperatively whether to continue and search for a possible ectopic gallbladder or investigate further with imaging studies. Gallbladder agenesis is a rare condition that the surgeon must be aware of. In the cases of inconclusive or indirect signs of cholelithiasis, the best approach is complementary imaging investigations such as magnetic resonance cholangiopancreatography in order to avoid surgery. Orv Hetil. 2019; 160(38): 1510–1513.

scholarly journals P.127 Management and outcome of spontaneous sub-aponeurotic fluid collections in infants: the Hospital for Sick Children experience and review of literature

2016 ◽  
Vol 43 (S2) ◽  
pp. S49-S49
Author(s):  
S Wang ◽  
AV Kulkarni ◽  
J Drake
Keyword(s):  
Fluid Collection ◽  
Case Series ◽  
Rare Condition ◽  
Infectious Complications ◽  
Unknown Etiology ◽  
Laboratory Findings ◽  
Imaging Characteristics ◽  
History Of ◽  
And Gender ◽  
Sick Children

Background: Spontaneous sub-aponeurotic fluid collection (SSFC) is an uncommon and newly described entity of unknown etiology, observed in infants less than one year of age. In this paper, we report a series of 9 infants who presented to the Hospital for Sick Children with SSFC over the 2004 to 2015 period, focusing on the natural history of this rare condition. Methods: Data from the HSC was retrospectively reviewed. Patient age and gender, birth history, past medical history, laboratory findings, imaging characteristics, management, and outcome were analyzed. Results: Our case series consists of 4 males and 5 females, ranging from 5 weeks to 11 months of age. All cases of SSFC developed spontaneously over a period of days, and the infants had no history of injuries or hair manipulation. Six patients had a remote history of forceps or vacuum-assisted births. One patient experienced fluctuating fluid collection size over 4 months, but in all the cases, the collections resolved spontaneously without structural or infectious complications. Conclusions: This is the largest series describing SSFC to date, and summarizes the experience of a large academic neurosurgical center. SSFCs develop spontaneously without immediate preceding trauma, and an extensive hematology or child abuse workup is not necessary. A conservative approach with outpatient follow-up is advocated.

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