Congenital Infiltrating Lipomatosis of Face-Induced Temporomandibular Joint Ankylosis.

Temporomandibular joint ankylosis (TMJA) secondary to congenital infiltrating lipomatosis of the face (CILF) is an exceptionally uncommon condition which is characterized by the involvement of unilateral facial soft tissues and bones. In some cases, the extensive exophytic bony growth in the temporomandibular joint region often extends toward the skull base and lies near adjacent vital structures. Only very few cases of TMJA associated with CILF have been reported in the literature. The authors report a case of a 36-year-old female with right TMJA secondary to CILF. The bony overgrowth in the right temporomandibular joint region was arising from a deformed right mandibular condyle, extending towards the ipsilateral temporal bone, greater wing of the sphenoid, skull base, and approaching the lateral limit of foramen ovale, and foramen spinosum. To prevent any damage to the skull base and adjacent vital structures and to achieve adequate mouth opening, the authors have performed a unique technique of subankylotic osteotomy for the release of TMJA, instead of conventional gap arthroplasty.

Mediastinal Lipomatosis.

Mediastinal lipomatosis is a benign condition characterized by excessive deposition of unencapsulated mature adipose tissue in the mediastinum.1 The exact prevalence is not known. The available literature mainly consists of some case series and a bunch of case reports.

Cervical syringomyelia with caudal thoracic epidural lipomatosis: case report and literature review.

Syringomyelia associated with epidural lipomatosis is a rare finding. Only three published cases of epidural lipomatosis associated with syringomyelia exist in the literature.We report the case of a 46-year-old woman who presented with progressive myelopathy over an 18-month period. Imaging revealed significant thoracic spinal cord compression secondary to epidural lipomatosis from T3 to T8 with cephalad cervical syringomyelia extending from C7 to T1. Imaging was unremarkable for Chiari malformation or a craniospinal space-occupying lesion. A T2 to T8 laminoplasty was performed, removing excessive epidural adipose tissue to decompress the thoracic spinal cord. Postoperatively, the patient reported symptom improvement with complete symptom resolution at 3 months. Follow-up imaging at 3-months demonstrated thoracic spinal cord decompression with mild syrinx reduction. At two-year follow-up the patient remained asymptomatic with unchanged imaging.Syringomyelia in the setting epidural lipomatosis is a rare finding.

Bilateral symmetric lipomatosis of the orbit in Madelung's disease.

Madelung's disease is a rare benign systemic lipomatosis, which often presents in the head, neck and upper trunk regions. The appearance of symmetrical, excessive adipose tissue in the subcutaneous layer is its clinical characteristic. Orbital involvement is unusual with only a few cases reported previously. In this study, we describe the clinical and radiological features of Madelung's disease in the orbits. A 42-year-old man with alcohol addiction presented with chronic bilateral masses of the lower eyelids and proptosis. Computed tomography (CT) scan showed excessive symmetrical non-encapsulated fat deposition in the orbital fat, lower eyelids, salivary glands, subcutaneous tissue along the neck and under the sternocleidomastoid muscles and supraclavicular areas bilaterally. Histopathological study of the orbital masses revealed mature adipose tissue interspersed with thin fibrous septae. He developed recurrent lipomatosis 1 year after surgical excision.

Bilateral Nerve Involvement in Lipomatosis of Nerve.

Lipomatosis of nerve (LN) is an intriguing pathological entity defined by the abundance of fibro-adipose tissue within the epineurium, a pathognomonic magnetic resonance imaging (MRI), and frequently associated nerve-territory overgrowth. A recent systematic review showed that the majority of cases are unilateral and predominately involve the median nerve. We reviewed bilateral cases of LN to further understand this pathology. We conducted a review of the literature and our institutional databases. The cases from the literature were sorted into three groups - bilaterally confirmed LN (n = 9), unilaterally confirmed, opposite side probable LN (n = 4), and probable bilateral LN (n = 10). Review of our institutional databases identified one case: a 47-year-old man. MRI revealed LN of the brachial plexus bilaterally. To our knowledge, this is the first reported case of brachial plexus LN occurring bilaterally. More research is necessary on this topic to further understand the genetic background of this entity, particularly in relationship to the overgrowth. (Journal of Surgical Orthopaedic Advances 30(1):044-049, 2021).

[Epidural lipomatosis : management proposal]. / Comment je traite la lipomatose épidurale.

Epidural lipomatosis is a rare condition characterized by excessive accumulation of normal fat in the epidural space. This paper presents the results of a retrospective study of the charts of 20 patients. The 20 patients - 17 men and 3 women - were on average 64 years old. They suffered from radiculopathy and/or neurogenic claudication. Lipomatosis was idiopathic in 6 patients and secondary in 14 patients. Lipomatosis was MRI grade 2 in 30 % of cases and grade 3 in 70 % of cases. The patients have all been improved thanks to decompressive surgery by laminectomy and resection of epidural fat. According to our experience and to the literature, surgical decompression is an effective and safe procedure for patients with symptomatic lumbar epidural lipomatosis in case of failure of conservative treatment or in case of neurological deficits. We present a decision tree that can help in the management of this disease.

La lipomatose épidurale est une affection rare caractérisée par une accumulation excessive de graisse normale dans l'espace épidural. Ce travail présente les résultats d'une étude rétrospective des dossiers de 20 patients. Les 20 patients, 17 hommes et 3 femmes, étaient âgés en moyenne de 64 ans. Ils souffraient d'une radiculopathie et/ou d'une claudication neurogène. La lipomatose était idiopathique chez 6 patients et secondaire chez 14 patients. L'IRM a démontré une lipomatose de grade 2 dans 30 % des cas et de grade 3 dans 70 % des cas. Les patients ont tous été améliorés grâce à la chirurgie de décompression par laminectomie et résection du tissu épidural. D'après notre expérience et selon la littérature, la décompression chirurgicale est une procédure efficace et sûre pour les patients présentant une lipomatose épidurale lombaire symptomatique en cas d'échec du traitement conservateur ou en cas de déficits neurologiques. Nous présentons un arbre décisionnel pouvant aider à la prise en charge de cette pathologie.

MR spectroscopy differences between lipomatosis of nerve and neuromuscular choristoma: a potential adjunctive diagnostic tool.

OBJECTIVE: To describe differences between lipomatosis of nerve (LN) and neuromuscular choristoma (NMC) evaluated with MR spectroscopy (MRS). MATERIALS AND METHODS: Eight patients were included in this prospective pilot study: three patients with LNs and five with NMCs. Single voxel PRESS MRS of the tumors were acquired with 3 T MRI. MRS data were processed with LCModel version 6.3-1J using the internal "lipid-8" basis set. From individual lipid peak and water content measurements, total fatty acid molecules (TFAM), unsaturated fatty acid molecules (UFAM), and glycerol molecules (GM) were computed and analyzed, as well as ratios of UFAM/TFAM, TFAM/GM, and a fatty-acid chain-length index (CLI). RESULTS: The LN group included two men and one woman (average age 58.3 years); the NMC group included two men and three women (average age 20.4 years). Lipid composition analysis showed that LN had considerably more fat than NMC: TFAM: LN = 15.29 vs NMC = 7.14; UFAM: LN = 4.48 vs NMC = 2.63; GM: LN = 5.20 vs NMC = 1.02. Both tumors had a similar fraction of unsaturated fatty acids: UFAM/TFAM: LN = 0.29 vs NMC = 0.37. LN had the usual number of FA molecules/glycerol molecule, while NMC had considerably more: TFAM/GM: LN = 2.94 vs NMC = 6.98. Finally, average FA chains were longer in NMC: CLI: LN = 17.39 vs NMC = 22.55. CONCLUSION: Our analysis suggests measurable differences in the amount and composition of lipid in LN and NMC. While a larger, statistically powered study is needed, these initial findings may be helpful to properly diagnose ambiguous cases and thereby avoid surgical intervention such as biopsy.

CT and MR imaging findings of solitary nevus lipomatosus cutaneous superficialis: radiological-pathological correlation.

OBJECTIVE: This study assessed the CT and MRI findings of solitary nevus lipomatosus cutaneous superficialis (NLCS). MATERIALS AND METHODS: Eleven patients with histopathologically and clinically confirmed solitary NLCS who underwent CT and/or MRI were enrolled. Radiological and histopathological findings of elevated lesions located above the level of the surrounding normal skin surface and coexisting subcutaneous lipoma-like lesions were assessed retrospectively. RESULTS: Elevated skin lesions were observed in all 11 patients; these lesions were pedunculated in 4 patients (36%) and broad-based in 7 (64%). The CT attenuation of elevated lesions was fat attenuation in 2 out of 7 patients (29%), slightly increased fat attenuation in 4 out of 7 (57%), and combined fat and soft-tissue attenuation in 1 out of 7 (14%). The MR signal intensity of elevated lesions on T1-weighted images was fat signal intensity in 2 out of 6 patients (33%), slightly decreased fat signal intensity in 3 out of 6 (50%), and combined fat signal intensity and hypointensity in 1 out of 6 (17%). Subcutaneous lipoma-like lesions with fat attenuation and/or fat signal intensity were observed in 6 out of 11 patients (55%). Histopathologically, various amounts of fatty tissue and collagenous fiber were observed within the elevated lesions in all 11 patients. CONCLUSION: The CT and MRI features of solitary NLCS were the broad-based or pedunculated elevated lesions, including fatty components. Additionally, subcutaneous lipoma-like lesions were frequently observed.

Relationship between appendicitis and diameter of ileocecal lipomatosis and also ileocecal angle.

PURPOSE: One of the most widespread surgical conditions is acute appendicitis in industrialized countries. Nevertheless, diagnosis of borderline cases is mostly troublesome and needs subsequent researches. For this reason, we aimed to investigate new parameters to improve estimation of acute appendicitis. Lymphoid hyperplasia, impacted stool, faecolith, caecal or appendiceal tumors have been accepted as causes of appendicitis formation, but anatomic variations of diameter of ileocecal lipomatosis and ileocecal angle have been never discussed before. The aim of this study was to assess the relationship between appendicitis and diameter of ileocecal lipomatosis and ileocecal angle. MATERIALS AND METHODS: 96 Patients (51 women, 45 men) who were found to have acute appendicitis during exploration and 67 patients (32 women, 35 men) who were not pre-diagnosed with acute appendicitis were enrolled in the study. The diameter of ileocecal lipomatosis and also ileocecal angle values were obtained via computed tomography (CT) scans. RESULTS: There were no significant differences between two groups in the mean of ileocecal angle (p > 0.05) but diameter of ileocecal lipomatosis values was significantly higher in the appendicitis-positive group compared with the appendicitis-negative group (p: 0.001). CONCLUSIONS: There is a relationship between increase in diameter of ileocecal lipomatosis and appendicitis formation.

Fat-Containing Lesions of the Liver: A Review of Differential Diagnoses.

The presence of intralesional fat provides an invaluable tool for narrowing the differential diagnosis for both benign and malignant neoplasms of the abdomen and pelvis. The ability to characterize intralesional fat is further expanded by the ability of magnetic resonance imaging to detect small quantities (intravoxel) of fat. The differential diagnosis of fat-containing lesions arising in the liver is broader than that of many other solid organs. However, this differential can be further refined depending on the type of fat (macroscopic vs intravoxel) and with the use of ancillary imaging findings. Radiologists must be aware of benign and malignant mimickers of common lesions.

Lipomatous hypertrophy of the atrial septum - a benign heart anomaly causing unexpected surgical problems: a case report.

BACKGROUND: Lipomatous hypertrophy of the atrial septum (LHAS) is an anomaly of the heart. It is characterized by an infiltration of adipocytes into myocytes of the interatrial septum, sparing the fossa ovalis, which gives a characteristic hourglass-shaped image. Due to the progress in imaging techniques, it can be recognized more frequently, but it is still often misdiagnosed. CASE PRESENTATION: We present a case of 65-year-old woman with an incidentally discovered lipomatous hypertrophy of the atrial septum during cardiac surgery, which has caused the technical problems for surgeons with bicaval cannulation and visualization of the operated structures of the heart. Due to the unclear shadow in the lung parenchyma, the patient had preoperative computed tomography (CT) done, but the study report focused only on the lung description, neglecting visible changes in the structure of the heart. Based on the standardly performed intra-operative transesophageal echocardiography (TEE), as well as by analyzing the chest X-ray and CT scans, the diagnosis of LHAS was made. It allowed the surgeon to leave the mass intact, thus not increasing the risk of the baseline surgery. CONCLUSIONS: LHAS is a rare but increasingly recognized anomaly of the heart. Contemporary diagnostic methods allow to diagnose and make the right therapeutic decisions. The utility of TEE and analysis of X-ray images, in this case, allowed the surgeon to recognize LHAS, and because of its histologically benign nature and asymptomatic course, to leave this change intact. Surgical treatment should be limited only to cases of patients with life-threatening cardiovascular complications.

Encephalocraniocutaneous Lipomatosis.

A 5-year-old boy presented with worsening headaches for 3 months. On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma) (). Magnetic resonance imaging revealed a large suprasellar mass, which was debulked and found to be a pilocytic astrocytoma. Testing was not performed for the BRAF/KIAA1549 fusion or BRAFV600E mutation. Seven years later, he was started on adjuvant chemotherapy for gradual tumor progression. Over the ensuing 3 years, he had further disease progression despite treatment with 3 frontline chemotherapy regimens: vinblastine, carboplatin/vincristine, and irinotecan/bevacizumab. Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. He was started on trametinib, a MEK inhibitor, off-label, targeting the MAPK pathway downstream from FGFR1, with stable tumor size at last follow-up, after 6 months on therapy.

Bilateral hydronephrosis and acute kidney injury secondary to pelvis lipomatosis.

A 57-year-old African American male presented with vague abdominal pain and bilateral flank pain. The patient was found to have bilateral hydronephrosis and significant renal function impairment secondary to pelvic lipomatosis. Pelvic lipomatosis represents a clinically-diagnosed unique cause of ureteral obstruction and subsequent renal impairment. We present a case report of newly diagnosed pelvic lipomatosis, the clinical and imaging characteristics for diagnosis, and its conservative management with serial ureteral stent exchanges.

Management of idiopathic spinal epidural lipomatosis: a case report and review of the literature.

BACKGROUND: Spinal epidural lipomatosis (SEL) is a rare pathologic growth of histologically normal unencapsulated adipose tissue in the epidural space. Although rare, SEL can compress the spinal cord or nerve roots causing myelopathy or radiculopathy. While SEL has been associated with long-term exposure to endogenous or exogenous steroids and obesity, idiopathic forms of SEL are much rarer. CASE REPORT: In this report, we present the first case of SEL isolated to the cervical region compressing the spinal cord in a healthy, non-obese, preadolescent patient. CONCLUSION: Idiopathic SEL in the pediatric population is a rare entity. This is the first case of epidural lipomatosis isolated to the cervical region in an adult or child patient. In refractory, symptomatic cases of idiopathic SEL, surgical decompression is often required.

Lumbar epidural lipomatosis is associated with visceral fat and metabolic disorders.

PURPOSE: Lumbar spinal epidural lipomatosis (LEL) is a condition characterized by excessive deposition of epidural fat in the spinal canal. Metabolic abnormalities may be associated with LEL, but few validated reports exist. Thus, we investigated the association between LEL and metabolic disorders in this study. METHODS: A total of 218 patients who had neurological symptoms due to neural compression in the lumbar spinal canal were examined by magnetic resonance imaging (MRI), abdominal computed tomography (CT) scans and blood tests. We evaluated the epidural fat, dural sac and spinal canal areas using MRI, and the visceral fat and subcutaneous fat areas using abdominal CT. We compared the patients' demographics and the radiological parameters between the LEL and non-LEL patients. RESULTS: There were 58 LEL patients and 160 non-LEL patients. The LEL group included more men than women. In the MRI measurement, the dural sac area was similar between the LEL and non-LEL patients; however, the epidural fat/spinal canal ratio was much greater in the LEL group. In the LEL patients, factors associated with metabolic disorders, such as visceral fat area, uric acid (UA) and insulin levels, were significantly greater, compared to the non-LEL patients. In the logistic regression analysis, UA and visceral fat area were the independent explanatory factors in the pathogenesis of LEL. CONCLUSIONS: LEL patients had significantly more visceral fat and increased levels of insulin, UA and ferritin, which are closely related with metabolic disorders. This study indicates that the increased epidural fat in the spinal canal seen in the LEL patients is associated with metabolic syndrome. These slides can be retrieved under Electronic Supplementary material.

A Case of Epidural Lipomatosis in Pregnancy: Management during Labour and Caesarean Section.

BACKGROUND: Spinal epidural lipomatosis (SEL) is a rare condition of adipose tissue accumulation in the epidural space. As a result of excess adipose tissue, neuraxial anaesthesia has been reported to behave unpredictably in patients with this condition. CASE: A 36-year-old woman had worsening postural headaches during pregnancy. MRI revealed SEL involving the thecal sac between L3/L4 and L5/S1. She had induction of labour but ultimately required a CS for delivery. Her anaesthesia was managed with an epidural inserted at L3/4. She developed a high block with relative sacral sparing. CONCLUSION: Although neuraxial anaesthesia was thought to be contraindicated in patients with SEL, it can be done safely. Care must be taken to provide slow epidural titration to avoid high sensory block in patients with this condition.

Congenital Infiltrating Lipomatosis of the Face: Case Report With Presentation of a New Multistep Surgical Approach.

PURPOSE: This report describes the first case of congenital infiltrating lipomatosis of the face (CIL-F) that was successfully managed with 2-jaw orthognathic surgery. MATERIALS AND METHODS: The patient was followed from 4 to 18 years of age. The multistep approach used consisted of a facelift-type procedure at 12 years to improve the soft tissue profile. At 13 years, the transverse maxillary deficiency was treated with transpalatal distraction. At 14 years, the patient underwent bimaxillary orthognathic surgery with a genioplasty. RESULTS: The patient's satisfaction level was very high and remained constant during the 4-year follow up. Extraoral clinical examination showed nearly complete harmonization at the soft and hard tissue levels. There was no recurrence of hypertrophy of the bones or facial soft tissues during the 4-year follow-up. CONCLUSION: The results of this study indicate that a surgical approach for CIL-F at the soft and bony levels is possible if indicated. Orthognathic surgery can be performed and good esthetic and functional results can be achieved. To minimize the risk of recurrence, it is important to perform the treatment after the onset of puberty. This harmonization at the osseous level can greatly benefit the psychological well-being of the patient.