A case of Wilson's disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature.

BACKGROUND: Wilson's disease (WD) is an inherited disorder of copper metabolism. Agenesis of the corpus callosum is the complete or partial absence of the major united fiber bundles connecting the cerebral hemispheres. Intracranial lipoma is an adipose tissue tumor resulting from an abnormal embryonic development of the central nervous system. The simultaneous occurrence of these three disorders is rare and has not been reported. This report focuses on the pathogenesis and association between the three disorders and highlights the importance of recognizing and effectively managing their coexistence. CASE PRESENTATION: The purpose of this study was to present a patient with coexisting WD, intracranial lipoma, and corpus callosum dysplasia. We reviewed a female patient hospitalized in 2023 with clinical manifestations of elevated aminotransferases and decreased ceruloplasmin, as well as genetic testing for an initial diagnosis of Wilson's disease. Subsequently, a cranial MRI showed corpus callosum dysplasia with short T1 signal changes in the cerebral falx, leading to a final diagnosis of Wilson's disease combined with intracranial lipoma and corpus callosum dysplasia. The patient's WD is currently stable after treatment with sodium dimercaptosulfonamide (DMPS) and penicillamine, and the patient's abnormal copper metabolism may promote the growth of intracranial lipoma. CONCLUSION: The pathogenesis of WD combined with intracranial lipoma and corpus callosum dysplasia is complex and clinically rare. The growth of intracranial lipomas may be associated with abnormal copper metabolism in WD. Abnormal copper metabolism affects lipid metabolism and triggers inflammatory responses. Therefore, early diagnosis and treatment are beneficial for improvement. Each new case of this rare co-morbidity is important as it allows for a better assessment and understanding of these cases' more characteristic clinical manifestations, which can help estimate the course of the disease and possible therapeutic options.

Radiologic-histopathologic correlation of fatty island sign with fat necrosis in atypical lipomatous tumor and lipoma.

AIM: This study aimed to assess the imaging features of atypical lipomatous tumors (ALTs) and lipoma with fat necrosis. METHODS: This study included patients with histopathologically proven fat necrosis within adipocytic tumors who underwent preoperative imaging. Magnetic resonance imaging (MRI) and/or computer tomography (CT) findings of fat necrosis associated with lipomatous tumors were retrospectively reviewed, emphasizing the "fatty island sign (FIS)." FISs were defined as well-demarcated, focal fat-containing areas surrounded by more thickened septa compared with other intratumoral septa. Imaging findings of FIS were compared between ALT and lipoma. RESULTS: Fat necrosis was histopathologically confirmed in 17 patients (6 ALTs and 11 lipomas). Among them, 18 FISs were observed in 10 lesions (59%). Multiple FISs within a lesion were observed in 4 (40%) patients. The median maximum diameter of the FISs was 37 mm. Hypointense areas within FISs relative to the subcutaneous fat on T1- and T2-weighted images were observed in 8 (80%) and 9 (90%), respectively, whereas hyperintense areas within FISs on fat-suppressed T2-weighted images were observed in 2 (20%). Nonfatty solid components within FISs were observed in 2 (20%). On CT, increased fat attenuation and pure fat attenuation within FISs were observed in 6 (86%) and 1 (14%), respectively. The imaging findings of FIS were not significantly different between ALT and lipoma. CONCLUSION: FISs were observed in 59% of the histologically proven ALT and lipoma patients with fat necrosis. The hypointense areas relative to the subcutaneous fat on T1- and T2-weighted images and increased fat attenuation on CT were usually observed within FISs.

Nodular cystic fat necrosis: a distinctive rare soft-tissue mass.

We report the case of a 34-year-old female who was evaluated for a right lower extremity soft-tissue mass, found to be a large cystic lesion bound by fibrous tissue containing innumerable, freely mobile nodules of fat. Her presentation suggested the diagnosis of nodular cystic fat necrosis (NCFN), a rare entity that likely represents a morphological subset of fat necrosis potentially caused by vascular insufficiency secondary to local trauma. Her lesion was best visualized using MRI, which revealed characteristic imaging features of NCFN including nodular lipid-signal foci that suppress on fat-saturated sequences, intralesional fluid with high signal intensity on T2-weighted imaging, and a contrast-enhancing outer capsule with low signal intensity on T1-weighted imaging. Ultrasound imaging offered the advantage of showing mobile hyperechogenic foci within the anechoic cystic structure, and the lesion was otherwise visualized on radiography as a nonspecific soft-tissue radiopacity. She was managed with complete surgical excision with pathologic evaluation demonstrating, similar to the radiologic features, innumerable free-floating, 1-5 mm, smooth, nearly uniform spherical nodules of mature fat with widespread necrosis contained within a thick fibrous pseudocapsule. Follow-up imaging revealed no evidence of remaining or recurrent disease on postoperative follow-up MRI. The differential diagnosis includes lipoma with fat necrosis, lipoma variant, atypical lipomatous tumor, and a Morel-Lavallée lesion. There is overlap in the imaging features between fat necrosis and both benign and malignant adipocytic tumors, occasionally making this distinction based solely on imaging findings challenging. To our knowledge, this is the largest example of NCFN ever reported.

Imaging diagnosis: CT characteristics of a retrobulbar hibernoma in a dog.

A 12-year-old female spayed Beagle was referred for investigation of exophthalmos. CT revealed a well-defined, retrobulbar mass causing rostro-dorsal displacement of the left globe. The mass had a mildly heterogeneous precontrast soft tissue attenuation with mild heterogeneous enhancement following iohexol administration. The mass was surgically removed en bloc with an orbital exenteration. Histopathology confirmed the mass to be a hibernoma, a benign tumor of brown adipose tissue. Hibernomas have CT characteristics consistent with both benign and malignant adipose tumors and may be underrecognized by radiologists.

Diagnostic accuracy of CT and MR features for detecting atypical lipomatous tumors and malignant liposarcomas: a systematic review and meta-analysis.

OBJECTIVES: This systematic review and meta-analysis evaluated the diagnostic accuracy of CT and MRI for differentiating atypical lipomatous tumors and malignant liposarcomas from benign lipomatous lesions. METHODS: MEDLINE, EMBASE, Scopus, the Cochrane Library, and the gray literature from inception to January 2022 were systematically evaluated. Original studies with > 5 patients evaluating the accuracy of CT and/or MRI for detecting liposarcomas with a histopathological reference standard were included. Meta-analysis was performed using a bivariate mixed-effects regression model. Risk of bias was evaluated using Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2). This study is registered on PROSPERO, number CRD42022306479. RESULTS: Twenty-six studies with a total of 2613 patients were included. Mean/median reported patient ages ranged between 50 and 63 years. The summary sensitivity and specificity of radiologist gestalt for detecting liposarcomas was 85% (79-90% 95% CI) and 63% (52-72%), respectively. Deep depth to fascia, thickened septations, enhancing components, and lesion size (≥ 10 cm) all demonstrated sensitivities ≥ 85%. Other imaging characteristics including heterogenous/amorphous signal intensity, irregular tumor margin, and nodules present demonstrated lower sensitivities ranging from 43 to 65%. Inter-reader reliability for radiologist gestalt within studies ranged from fair to substantial (k = 0.23-0.7). Risk of bias was predominantly mixed for patient selection, low for index test and reference standard, and unclear for flow and timing. CONCLUSION: Higher sensitivities for detecting liposarcomas were achieved with radiologist gestalt, deep depth to fascia, thickened septations, enhancing components, and large size. Combined clinical and imaging scoring and/or radiomics both show promise for optimal performance, though require further analysis with prospective study designs. CLINICAL RELEVANCE: This pooled analysis evaluates the accuracy of CT and MRI for detecting atypical lipomatous tumors and malignant liposarcomas. Radiologist gestalt, deep depth to fascia, thickened septations, enhancing components, and large size demonstrate the highest overall sensitivities. KEY POINTS: • The summary sensitivity and specificity of radiologist gestalt for detecting liposarcomas was 85% (79-90% 95% CI) and 63% (52-72%), respectively. • Radiologist gestalt, deep depth to fascia, thickened septations, enhancing components, and large tumor size (≥ 10 cm) showed the highest sensitivities for detecting atypical lipomatous tumors/well-differentiated liposarcomas and malignant liposarcomas. • A combined clinical and imaging scoring system and/or radiomics is likely to provide the best overall diagnostic accuracy, although currently proposed scoring systems and radiomic feature analysis require further study with prospective study designs.

Relationship Between Pericallosal Lipoma and Neuropsychiatric Symptoms: A Case Report.

ABSTRACT: Intracranial lipomas are extremely rare fat-containing lesions that occur due to the abnormal differentiation of embryonic meninges. Interhemispheric lipomas that are closely related to the corpus callosum are also referred to as pericallosal lipomas and are the most common subtype. Pericallosal lipomas are associated with varying degrees of dysgenesis of the corpus callosum and therefore have a broad clinical presentation. Herein, we describe a case of a 15-year-old man who presented with a history of developmental delay and psychiatric symptoms and was incidentally found to have a pericallosal lipoma on magnetic resonance imaging, prompting clinical correlation.

The Current Status of the Surgical Management of Complex Spinal Cord Lipomas: Still Navigating the Labyrinth?

This review summarises the classification, anatomy and embryogenesis of complex spinal cord lipomas and describes in some detail the technique of total lipoma resection and radical reconstruction of the affected neural placode. Its specific mission is to tackle two main issues surrounding the management of complex dysraphic lipomas: whether total resection confers better long-term benefits than partial resection and whether total resection does better than conservative treatment, i.e. no surgery, for asymptomatic lipomas. Accordingly, the 24-year progression-free survival data of the senior author and colleagues' series of over 300 cases of total resection are compared with historical data from multiple series (including our own) of partial resection, and total resection data specifically for asymptomatic lesions are compared with the two known series of non-surgical treatment of equivalent patients. These comparisons so far amply support the author's recommendation of total resection for most complex lipomas, with or without symptoms. The notable exception is the asymptomatic chaotic lipoma, whose peculiar anatomical relationship with the neural tissue defies even our aggressive surgical approach, and consequently projects worse results (admittedly of small number of cases) than for the other two lipoma subtypes of dorsal and transitional lesions. Prophylactic resection of asymptomatic chaotic lipomas is therefore not currently endorsed. We have also recently found that some dorsal lipomas with clear outline of the conus on preoperative imaging had a significantly better long-term prognosis of preserving neurourological functions without surgery. Whether this subset of lipomas should be managed conservatively until symptoms arise is now an open question awaiting a longer follow-up of a larger cohort of such patients.

Nephrogenic rest vs immature teratoma associated with lumbosacral lipomyelomeningocele: a case report and review of the literature.

BACKGROUND: Lipomyelomeningoceles (LMMs) are subcutaneous lipomas with dural penetration that often present with spinal cord tethering and may lead to neurological deterioration if untreated. This report describes a rare case of an LMM associated with immature nephroblastic tissue, representing a nephrogenic rest (NR) or, less likely, an immature teratoma. CLINICAL PRESENTATION: An 8-day-old infant girl presented to the clinic with a sacral dimple. Imaging demonstrated a tethered spinal cord with low-lying conus medullaris and an LMM. A firm mass was noted in the subcutaneous lipoma. Detethering surgery and removal of the lipoma and mass were performed at the age of 6 months. Pathological examination identified the mass as cartilage, fat, and immature nephroblastic tissue consistent with NR tissue or, less likely, a teratoma with renal differentiation. CONCLUSION: This presentation of an LMM associated with an immature teratoma or NR poses a risk of malignant transformation in patients. As a result, careful surgical dissection, resection, and close clinical follow-up are recommended for these patients.

Surgery for spina bifida occulta: spinal lipoma and tethered spinal cord.

The technical evolution of the surgery for spina bifida occulta (SBO) over the course of a half-century was reviewed with special foci placed on the spinal lipoma and tethered spinal cord. Looking back through history, SBO had been included in spina bifida (SB). Since the first surgery for spinal lipoma in the mid-nineteenth century, SBO has come to be recognized as an independent pathology in the early twentieth century. A half-century ago, the only option available for SB diagnosis was the plain X-ray, and pioneers of the time persevered in the field of surgery. The classification of spinal lipoma was first described in the early 1970s, and the concept of tethered spinal cord (TSC) was proposed in 1976. Surgical management of spinal lipoma with partial resection was the most widely practiced approach and was indicated only for symptomatic patients. After understanding TSC and tethered cord syndrome (TCS), more aggressive approaches became preferred. A PubMed search suggested that there was a dramatic increase of publications on the topic beginning around 1980. There have been immense academic achievements and technical evolutions since then. From the authors' viewpoint, landmark achievements in this field are listed as follows: (1) establishment of the concept of TSC and the understanding of TCS; (2) unraveling the process of secondary and junctional neurulation; (3) introduction of modern intraoperative neurophysiological mapping and monitoring (IONM) for surgery of spinal lipomas, especially the introduction of bulbocavernosus reflex (BCR) monitoring; (4) introduction of radical resection as a surgical technique; and (5) proposal of a new classification system of spinal lipomas based on embryonic stage. Understanding the embryonic background seems critical because different embryonic stages bring different clinical features and of course different spinal lipomas. Surgical indications and selection of surgical technique should be judged based on the background embryonic stage of the spinal lipoma. As time flows forward, technology continues to advance. Further accumulation of clinical experience and research will open the new horizon in the management of spinal lipomas and other SBO in the next half-century.

Herniated superficial lipomas in gluteal and thigh support areas: a special clinical ultrasound presentation.

BACKGROUND: Lipomas are the most frequent benign tumor. They have been described as soft, well-defined, slow-growing palpable masses, and classified as deep or superficial. PURPOSE: To present the clinical and ultrasound findings of herniated superficial subcutaneous lipoma (HSL), located in pressure/support areas, not previously described. MATERIAL AND METHODS: A seven-year retrospective review was performed. Patients with a preoperative high-resolution ultrasound (HRUS) diagnosis of HSL archived in the computational system and histological study information were selected. RESULTS: A total of 37 patients (mean age = 46 years) were recruited. The clinical diagnoses were "lipoma" or "suspected lipoma" in just 46% of the cases. This was three times more frequent in women. Tumors were located mainly in the gluteal (38%) and proximal thigh areas (35%). Clinically, all patients showed small, soft, rounded skin nodules. On HRUS, they appear as lipomatous tumors that protruded, compressed, and thinned the covering dermal layer. The subcutaneous portion was bigger than the herniated part, with an iceberg image. CONCLUSION: HSL in support areas have a special clinical ultrasound presentation, not previously described. It is important to recognize them for a proper diagnosis and treatment, especially because they clinically may present as small superficial lesions; however, they are associated with a larger subcutaneous portion (iceberg image). It is probable that an estrogen influence on the adipose tissue can be suspected because of the female predominance.

Renal Lipoma-Like Angiomyolipoma of Tumour Thrombus Extending to the Confluence of Inferior Vena Cava with Right Atrium: A Rare Case Report and Literature Review.

Angiomyolipoma (AML) complicated with tumour thrombus extending to the confluence of inferior vena cava (IVC) with right atrium is rarely observed. We report a female AML patient admitted to our centre on January 21, 2020, with complication of tumour thrombus extending to the confluence of IVC with right atrium and had no sign of difficult breathing. She underwent whole-abdominal enhanced CT for abdominal pain and was diagnosed with a possible renal AML with tumour thrombus. Open radical nephrectomy and thrombectomy of vena cava were performed. Intraoperative transoesophageal echocardiography indicated that the tumour thrombus has reached the confluence of IVC with right atrium. The operation took 255 min with an intraoperative haemorrhage of 800mL. The patient was discharged 7 days after surgery. Pathology revealed lipoma-like AML. Immunohistochemistry showed vimentin (+), EMA (-), HMB45 (+), S-100 (-), SMA (+), TFE-3 (-), melan A (+). After 2 years of follow-up, we found that the patient showed full recovery and had no recurrence. Therefore, lipoma-like AML should also be followed closely for recurrence and metastasis. When AML involves IVC tumour thrombus, open thrombectomy and radical nephrectomy are safe and effective methods.

Radiomics-based approaches outperform visual analysis for differentiating lipoma from atypical lipomatous tumors: a review.

BACKGROUND: Differentiating atypical lipomatous tumors (ALTs) and well-differentiated liposarcomas (WDLs) from benign lipomatous lesions is important for guiding clinical management, though conventional visual analysis of these lesions is challenging due to overlap of imaging features. Radiomics-based approaches may serve as a promising alternative and/or supplementary diagnostic approach to conventional imaging. PURPOSE: The purpose of this study is to review the practice of radiomics-based imaging and systematically evaluate the literature available for studies evaluating radiomics applied to differentiating ALTs/WDLs from benign lipomas. REVIEW: A background review of the radiomic workflow is provided, outlining the steps of image acquisition, segmentation, feature extraction, and model development. Subsequently, a systematic review of MEDLINE, EMBASE, Scopus, the Cochrane Library, and the grey literature was performed from inception to June 2022 to identify size studies using radiomics for differentiating ALTs/WDLs from benign lipomas. Radiomic models were shown to outperform conventional analysis in all but one model with a sensitivity ranging from 68 to 100% and a specificity ranging from 84 to 100%. However, current approaches rely on user input and no studies used a fully automated method for segmentation, contributing to interobserver variability and decreasing time efficiency. CONCLUSION: Radiomic models may show improved performance for differentiating ALTs/WDLs from benign lipomas compared to conventional analysis. However, considerable variability between radiomic approaches exists and future studies evaluating a standardized radiomic model with a multi-institutional study design and preferably fully automated segmentation software are needed before clinical application can be more broadly considered.

Multimodality imaging features of parosteal lipomas.

OBJECTIVE: To examine the multimodality imaging characteristics of parosteal lipomas. MATERIALS AND METHODS: With IRB approval, our institutional imaging database and medical record were retrospectively reviewed from 1990-2020 for cases of pathologically-proven and/or imaging diagnosed parosteal lipomas. RESULTS: There were 22 patients (12 males, 10 females) with a mean age of 57.1 ± 12.7 years (range 31-80 years). 11/22 cases (50%) were pathologically-confirmed on biopsy or surgical resection and 11/22 (50%) had imaging features compatible with parosteal lipoma. Lesions occurred most commonly along the femur (8/22, 36%), followed by the forearm (3/22, 14%). All cases demonstrated a juxtacortical fatty mass containing an osseous excrescence that was firmly attached to the cortical surface. The osseous excrescences were characterized as pedunculated in 16/22 (73%) and sessile in 6/22 (27%). The average largest dimension of the osseus excrescences was 2.4 ± 1.6 cm (range 0.8-6.1 cm) and the lipomatous portions 7.8 ± 3.8 cm (range 2.0-19.5 cm). The excrescences contained mature bone in 12/22 (55%) cases and a mixture of mature bone and radiating bone spicules in 10/22 (45%). There were non-lipomatous elements in the fatty portion of the mass in 13/22 (59%) of cases. Most cases (19/22, 85%) had cortical thickening/periostitis near the base of the osseous stalk. Two patients had a bone scan that demonstrated uptake in the osseous excrescence, and two patients had an FDG PET/CT that demonstrated no uptake. CONCLUSION: Parosteal lipomas are a rare benign lipomatous tumor with pathognomonic multimodality imaging features that may obviate the need for biopsy.

A rare case of an intra-articular true lipoma of the ankle.

BACKGROUND: Most of the foot and ankle soft tissue tumors are benign. Although lipomas are the most common soft tissue tumors, intra-articular lipomas are an extremely rare entity. The majority of described cases of intra-articular lipomas occur in the knee joint. In particular, an intra-articular true lipoma of the ankle has not been reported. CASE PRESENTATION: We report the case of a 45-year-old woman who presented with a progressively growing ankle mass over 5 years, which started to restrict the range of motion. It was not preceded by any trauma or sports activity. On examination, a non-tender firm mass was evident on the lateral aspect of the right ankle joint with no signs of inflammation. It was non-compressible, non-mobile, and did not transilluminate. The clinical diagnosis was probable for a soft tissue ganglion. A radiograph revealed a soft tissue opacity over the anterolateral aspect of the tibiotalar joint. Magnetic resonance imaging (MRI) demonstrated a well-defined, multilobulated, encapsulated lesion located at the lateral aspect of the tibiotalar joint; with intra- and extra-articular components and an analogous signal intensity to fat. The patient underwent surgical excision of the tumor, and the histopathological examination showed mature adipose tissue representing an intra-articular lipoma. At the follow-up visit, the patient had complete resolution of symptoms and no active complaints. CONCLUSION: An intra-articular true lipoma of the ankle is an extremely rare tumor. MRI is an invaluable diagnostic tool to make a reliable diagnosis of intra-articular masses.

Epilepsy surgery without lipoma removal for temporal lobe epilepsy associated with lipoma in the Sylvian fissure.

Epileptic seizure is the common symptom associated with lipomas in the Sylvian fissure (Sylvian lipomas). Removal of these lipomas carries risks of hemorrhage and brain damage. We report a surgical strategy of not removing the lipoma in a case of intractable temporal lobe epilepsy associated with Sylvian lipoma. We performed anterior temporal lobectomy with preservation of the pia mater of the Sylvian fissure and achieved seizure freedom. Focal cortical dysplasia type 1 of the epileptic neocortex adjacent to the Sylvian lipoma was pathologically diagnosed. We recommend our surgical procedure in similar cases to avoid complications and achieve adequate seizure control.

Non-dysraphic extramedullary intradural spinal lipoma with neurocutaneous melanocytosis.

INTRODUCTION: Intradural spinal lipomas are very rare and constitute less than 1% of all spinal tumors. Such tumors are usually associated with spinal dysraphism and occur mostly in the lumbosacral or cervical region. Intradural spinal lipomas tends to be intramedullary or subpial. Meningeal melanocytoma is further rarer cases that comprise less than 0.1% of cases. These usually occur in the fifth or fifth decade and chances of malignant transformation are high. CASE REPORT: Here, we report an extremely rare case (first to the best of our knowledge) of a 9 years female child who presented to us with rapid progressing paraparesis. She was operated and found to have an intradural purely extramedullary spinal lipoma without spinal dysraphism. Moreover, she had melanin pigment deposits all over her meninges which is further rare. On presentation, the patient was bedridden but after surgery, the patient improved and could walk without support. CONCLUSIONS: To the best of our knowledge, this is the first case of spinal cord lipoma in dorsal location along with melanin pigments in the meninges. We discuss the pathogenesis, presentation and management of intradural extramedullary spinal lipomas.

Complex spinal dysraphism: myelomenigocele associated with dorsal bony spur, split cord malformation type I, syringomyelia, lipoma and tethered cord.

Variations in split cord malformation (SCM) are known. However, association of SCM type I with myelomeningocele along with same level dorsal bony spur has not been described previously. We report a 1-year old male child who presented with these findings with associated syringomyelia, lipoma and tethered cord.

Large Lipoma with Focal Cartilage Metaplasia of the Under-tongue Region.

Lipomas are benign connective tissue tumors. They are common lesions in the human body, but they rarely appear in the oral cavity. We present a case of a 31-year-old female with a 2 months history of painful swelling of the under-tongue region, without dysphagia and dyspnea. The neoformation was surgically removed with a trans-oral approach. The pathological diagnosis was lipoma with focal cartilage metaplasia. Good healing of surgical site was observed, without complications and persistence of the lesion.

Large Lipoma of the Lateral Space of the Neck.

Giant lipoma is characterized by asymptomatic growth and compared with other parts of the body rarely occurs on the neck. If the tumor is localized in the lateral segment of the neck, it can show symptoms in the form of dysphagia and dyspnea. Preoperatively, it is important to perform computed tomography (CT) diagnostic to determine the size of the lesion and makes the plan for operative treatment. The paper presents the case of a 66-year-old patient with a tumor in the neck area as well as swallowing disorders and suffocation during sleep. Palpation revealed a tumor of soft consistency, and based on a CT scan of the neck, the differential diagnosis confirmed giant lipoma. Clinical picture and CT findings of giant neck lipoma are clear in most cases. Due to the atypical localization and size, the tumor should be removed to prevent possible functional disturbances. The treatment is operative, and a histopathological examination should exclude malignancy.

Cardiac lipoma in left ventricle: A rare case diagnosed using imaging data.

Lipomas occuring within the heart are rare tumors, and invasive cardiac lipomas are even rare. Hereinafter we reported a case of a 51-year-old woman with a left ventricular transmural invasive lipoma, and summarized the imaging characteristics and main sites of it. Comprehensive imaging investigations appears valuable for early detection, intraoperative monitoring, and postoperative follow-up of invasive cardiac lipomas.