Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.

INTRODUCTION: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays. The spinal cord is frequently affected, leading to problems like medullary compression and radiculopathy, causing back pain and sensory/motor deficits. Surgical interventions are reserved for symptomatic cases to address hydrocephalus or alleviate spinal lipomas. This article reviews a case series to assess surgical risks and neurological outcomes. CASE SERIES: We present a case series ECCL, focusing on the diffuse lipomatosis of the spinal cord and the intricate surgical procedures involved. A multi-stage surgical approach was adopted, with continuous neuromonitoring employed to safeguard motor pathways. We discuss clinical characteristics, imaging studies, and indications for neurosurgical interventions. DISCUSSION: ECCL is a complex syndrome. Diagnosis is challenging and includes clinical evaluation, neuroimaging, and genetic testing. Treatment targets specific symptoms, often requiring surgery for issues like lipomas or cerebral cysts. Surgery involves laminectomies, spinal fusion, and motor pathway monitoring. Thorough follow-up is crucial due to potential CNS complications like low-grade gliomas. Hydrocephalus occurs in some cases, with endoscopic third ventriculostomy (ETV) preferred over ventriculoperitoneal shunt placement. CONCLUSION: Neurosurgery for ECCL is for symptomatic cases. ETV is preferred for hydrocephalus, while the treatment for lipoma is based on the presence of symptoms; the follow-up should assess growth and prevent deformities.

Synovial Lipomatosis With Extra-articular Extension in the Arthritic Wrist: An Unexpected Diagnosis.

ABSTRACT: Synovial lipomatosis is a rare condition characterized by adipocyte proliferation within joint synovial tissue. It most commonly affects the knee and is typically intra-articular. Only 5 published case reports describe extra-articular synovial lipomatosis of the wrist. We present a case of a sexagenarian patient seen for his wrist arthropathy. His x-ray revealed pan-wrist arthritis and inflammatory soft tissue swelling. The patient was slated for a wrist fusion and Darrach procedure. Following the dorsal skin incision in the operating room, an unusual adipose mass was identified infiltrating all extensor compartments: midcarpal, radiocarpal, and distal radioulnar joints. The mass was excised and sent to pathology prior to proceeding with the slated surgery. Synovial lipomatosis was diagnosed postoperatively based on histopathology. Six weeks postoperatively, the wrist fusion had healed clinically and radiographically, and his pain had improved. There was no evidence of recurrence. Synovial lipomatosis is a rare entity that may imitate multiple other pathologies. It is possible that synovial lipomatosis may represent a secondary occurrence following degenerative articular disease or trauma in older patients. This is the first case report to date describing synovial lipomatosis of the wrist with extra-articular extension in the setting of pan-carpal wrist arthritis.

Outcome of posterior decompression for spinal epidural lipomatosis.

BACKGROUND: In contrast to osteoligamentous lumbar stenosis (LSS), outcome of surgical treatment for spinal epidural lipomatosis (SEL) is still not well defined. We present risk factors for SEL and clinical long-term outcome data after surgical treatment for patients with pure SEL and a mixed-type pathology with combined SEL and LSS (SEL+LSS) compared to patients with pure LSS. METHODS: From our prospective institutional database, we identified all consecutive patients who were surgically treated for newly diagnosed SEL (n = 31) and SEL+LSS (n = 26) between 2018 and 2022. In addition, a matched control group of patients with pure LSS (n = 30) was compared. Microsurgical treatment aimed for posterior decompression of the spinal canal. Study endpoints were outcome data including clinical symptoms at presentation, MR-morphological analysis, evaluation of pain-free walking distance, pain perception by VAS-N/-R scales, and patient's satisfaction by determination of the Odom score. RESULTS: Patients with osteoligamentous SEL were significantly more likely to suffer from obesity (body mass index (BMI) of 30.2 ± 5.5 kg/m2, p = 0.03), lumbar pain (p = 0.006), and to have received long-term steroid therapy (p = 0.01) compared to patients with SEL+LSS and LSS. In all three groups, posterior decompression of the spinal canal resulted in significant improvement of these symptoms. Patients with SEL had a significant increase in pain-free walking distance during the postoperative course, at discharge, and last follow-up (FU) (p < 0.0001), similar to patients with SEL+LSS and pure LSS. In addition, patients with pure SEL and SEL+LSS had a significant reduction in pain perception, represented by smaller values of VAS-N and -R postoperatively and at FU, similar to patients with pure LSS. In uni- and multivariate analysis, domination of lumbar pain and steroid long-term therapy were significant characteristic risk factors for SEL. CONCLUSIONS: Surgical treatment of pure SEL and SEL+LSS allows significant improvement in pain-free walking distance and pain perception immediately postoperatively and in long-term FU, similar to patients with pure LSS.

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.

Lumbar spinal stenosis combined with obesity-induced idiopathic spinal epidural lipomatosis treated with posterior lumbar fusion: case report.

BACKGROUND: Spinal epidural lipomatosis is a rare cause of lumbar spinal stenosis. While conservative therapy is applicable for most of cases, surgical intervention is necessary for severe ones. This is the first time we apply this modified technique to this disease. CASE PRESENTATION: The case is a 53-year-old man. He is 175 cm tall and weighs 102 kg (body mass index 33.3 kg/cm2), presenting with low back pain and bilateral legs pain and numbness. Radiological examination showed severe lumbar spinal stenosis resulting from adipose hyperplasia, combined with hyperosteogeny and hypertrophy of ligaments, which are common etiological factors. Posterior decompression, internal fixation and a modified articular fusion technique was performed on this patient, and regular follow-up that up o 22 months showed outstanding clinical outcomes. CONCLUSIONS: A suitable style of posterior lumbar fusion should be considered to especially severe case with lumbar spinal stenosis and idiopathic spinal epidural lipomatosis.

[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.

Two-year outcome comparison of decompression in 14 lipomatosis cases with 169 degenerative lumbar spinal stenosis cases: a Swiss prospective multicenter cohort study.

PURPOSE: Spinal epidural lipomatosis (SEL) is defined as an abnormal and extensive accumulation of unencapsulated adipose tissue within the spinal epidural space. To date, there is a lack of high-level evidence studies reporting the outcome of surgical treatment of symptomatic SEL in patients with lumbar spinal stenosis (LSS). The aim was to compare clinical outcomes in patients with symptomatic LSS with and without SEL who underwent decompression surgery alone at the 12- and 24-month follow-up. METHODS: One hundred and eighty-three patients met the inclusion criteria, of which 14 had mainly SEL on at least one level operated in addition to possible degenerative changes on other levels and 169 degenerative LSS only. The main outcomes were pain (Spinal Stenosis Measure (SSM) symptoms), disability (SSM function), and quality of life [EQ-5D-3L summary index (SI)] at 24-month follow-up, and minimal clinically important difference (MCID) in SSM symptoms, SSM function, and EQ-5D-3L SI. RESULTS: The multiple regression linear models showed that SEL was associated with worse SSM symptoms (p = 0.045) and EQ-5D-3L SI scores (p = 0.026) at 24-month follow-up, but not with worse SSM function scores. Further, depression (in all models) was negatively associated with better clinical outcomes at 24-month follow-up. In the outcomes SSM symptoms and EQ-5D-3L SI, distinctly more patients in the classical LSS group reached MCID than in the SEL group (71.3% and 62.3% vs. 50.0% and 42.9%). CONCLUSIONS: Our study demonstrated that decompression alone surgery was associated with significant improvement in disability in both groups at 2 years, but not in pain and quality of life in patients with SEL.

Treatment results for lumbar epidural lipomatosis: Does fat matter?

PURPOSE: The lumbar epidural lipomatosis (LEL) is a rare disease that can cause sciatic pain syndrome or neurological deficits comparable to symptoms caused by a classical spinal canal stenosis. In severe cases surgical decompression was conducted. However, the outcome after decompressive surgery has only been investigated in small case series. In this study we compared the outcome of LEL patients after microsurgery with the outcome of patients with classical spinal stenosis (CSS). METHODS: Patients with LEL (n = 38) and patients with CSS (n = 51), who received microsurgical decompression, were followed in a prospective observational study for 3 years. The clinical results including the Oswestry Disability Index, Numeric Pain Rating Scale (NRS), Roland and Morris Disability Questionnaire, the Short Form-36 Score and the Walking Distance were analysed and compared between both groups. RESULTS: Patients with LEL improved significantly after microsurgical decompression in a 3-year follow-up concerning back pain, leg pain and pain-associated disability equal to patients with CSS (NRSback_LEL_preop. = 6.4; NRSback_CSS_preop. = 6.3; NRSback_LEL_3-years = 3.2; NRSback_CSS_3-years = 3.6; NRSleg_LEL_preop. = 6.3; NRSleg_CSS_preop. = 6.5; NRSleg_LEL_3-years = 2.5; NRSleg_CSS_3-years = 2.9; ODILEL_preop. = 52.7; ODICSS_preop = 51.8; ODILEL_3-years = 32.3; ODICSS_3-years = 27.6). The microsurgical decompression had a positive effect on the health-related quality of life, and patient satisfaction was high in both groups (LEL group-71%, CSS group-69%). CONCLUSIONS: LEL can influence the quality of life dramatically and cause a high degree of disability. A surgical decompression is a safe and effective procedure with a good clinical outcome comparable to the results in patients with an osteoligamentous spinal stenosis. Therefore, microsurgical decompression can be recommended in patients with LEL if conservative treatment fails. These slides can be retrieved under Electronic Supplementary Material.

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.

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.

Clinical and imaging characteristics in patients undergoing surgery for lumbar epidural lipomatosis.

BACKGROUND: Lumbar epidural lipomatosis (LEL) is characterized by abnormal accumulation of unencapsulated adipose tissue in the spinal epidural space. Such accumulation compresses the dural sac and nerve roots, and results in various neurological findings. However, the pathophysiology of LEL remains unclear. This study examined the associations between imaging and clinical findings in detail, and investigated the mechanisms underlying symptom onset by measuring intraoperative epidural pressures in LEL. METHODS: Sixteen patients (all men; mean age, 68.8 years) were enrolled between 2011 and 2015. Mean body mass index was 26.5 kg/m2. Four cases were steroid-induced, and the remaining 12 cases were idiopathic. All patients presented with neurological deficits in the lower extremities. Cauda equina syndrome (CES) alone was seen in 8 patients, radiculopathy alone in 4, and both radiculopathy and CES (mixed CES) in 4. All patients subsequently underwent laminectomy with epidural lipomatosis resection and were followed-up for more than 1 year. We investigated the clinical course and imaging and measured epidural pressures during surgery. RESULTS: Subjective symptoms improved within 1 week after surgery. Mean Japanese Orthopaedic Association (JOA) score was 15.2 ± 2.8 before surgery, improving to 25.4 ± 2.5 at 1 year after surgery. On magnetic resonance imaging, all lipomatosis lesions included the L4-5 level. On preoperative computed tomography, saucerization of the laminae was not observed in radiculopathy cases, whereas saucerization of the posterior vertebral body was observed in all radiculopathy or mixed CES cases. Intraoperative epidural pressures were significantly higher than preoperative subarachnoid pressures. The results suggest that high epidural pressure resulting from the proliferation of adipose tissue leads to saucerization of the lumbar spine and subsequent symptoms. CONCLUSIONS: Clinical courses were satisfactory after laminectomy. In LEL, epidural pressure increases and symptoms develop through the abnormal proliferation of adipose tissue. Higher epidural pressures induce saucerization of the laminae and/or posterior vertebral body. Furthermore, the direction of proliferative adipose tissue (i.e., site of saucerization) might be related to the types of neurological symptoms.

Lipomatoses.

Lipomatoses are benign proliferations of adipose tissue, often with typical distribution patterns, which usually occur without clear causes. In contrast to circumscribed lipomas, they develop diffusely and symmetrically and are not surrounded by a fibrous pseudocapsule. The most common form is benign symmetric lipomatosis (BSL; Launois-Bensaude syndrome), of which four types are distinguished based on the distribution pattern of hyperplastic adipose tissue. The etiology and pathogenesis of the disease are still largely unknown, although some forms appear to have a hereditary basis or to be associated with increased alcohol consumption. In some cases, mitochondrial dysfunctions have been detected. Lipomatoses may be solitary, but may also be associated with other symptoms or illnesses (comorbidity). Effective drug therapies are not known, but surgical procedures can alleviate the symptoms. Lipomatosis dolorosa, which can be distinguished from BSL, occurs predominantly in middle-aged women and is characterized by proliferation of adipose tissue and severe pain in the affected areas. Various differential diagnoses and concomitant illnesses need to be considered, in particular depression. There are no evidence-based recommendations for therapy. Repetitive lidocaine infusions can achieve temporary improvement. Recurrence after surgical intervention is not uncommon, but long-term success is also possible.

Isolated peroneal tenosynovial lipoma arborescens: multimodality imaging features.

Synovial lipoma arborescens is a rare and benign fatty proliferative lesion of the synovium that is most commonly seen within the suprapatellar pouch of the knee, but increasingly reported to involve tendon sheaths, including those of the ankle. We present the third known case of tenosynovial lipoma arborescens isolated to the peroneal tendon sheath without ankle joint involvement. To our knowledge, this is the first to report this entity utilizing a unique combination of radiographic, sonographic, and MR imaging, along with intraoperative and histologic correlation. Knowledge of this case is important when interpreting radiographic or sonographic images of this condition to raise the possibility of the rare entity of lipoma arborescens involving the peroneal tendon sheath.

Characteristics of Pediatric Cheek Mass.

PURPOSE: Patients with cheek mass are often referred to our medical center's department of plastic surgery. Most patients with deep cheek mass have the characteristic of a slowly growing, painless mass. We reviewed the lesion's pathology of this complex anatomic area in the pediatric population, focusing on differential diagnosis and the recent surgical strategies. METHODS: We retrospectively reviewed 56 patients visiting our department from 2009 to 2016. Data analysis included the patients' lesion characteristics, clinical presentation, presumptive diagnosis, results of preoperative investigations, pathological diagnosis, and treatment details. RESULTS: Patient age ranged from 1 day to 19 years (mean 7.81 years). The most common presentation was an asymptomatic, slowly enlarging mass. Preoperative diagnoses were made after clinical examination, and then the imaging study was performed. Surgical intervention was performed in 31 patients. The most common histopathological types were vascular anomalies. The next order of prevalence, from most prevalent to least, was lipomatosis, neurofibroma, and teratoma cases. CONCLUSION: As for our patients, various histopathological types of pediatric cheek mass were presented. Being suspicious of a rare disease and having a prudent diagnostic skill were important for a successful diagnosis. The primary treatment of these lesions is surgical excision with a meticulous surgical approach. In our patients, the prognosis of such treatment was good. This study provides a differential diagnosis of cheek mass in the pediatric population and signifies that the prevalence and types of cheek mass in pediatrics are different from those of the adult population.

Nevus lipomatosus cutaneous superficialis with focal lipocytic pagetoid epidermal spread and secondary calcinosis cutis: a case report.

A case of nevus lipomatosus cutaneous superficialis is presented, wherein the lesion occurred as a gluteal swelling in a 6-year-old boy. On histopathology examination, it consisted of typical superficial expanses of mature adipose tissue in the papillary dermis of the polypoidal lesion. It was accompanied by 2 unusual findings, which consisted of the focal presence of lipocytes at the epidermal­dermal junction in the pagetoid manner and the prominent deposition of calcium resulting in calcinosis cutis­like lesions. Calcinosis cutis in the present case occurred as dystrophic calcification in focal fat necrosis changes of the lesion, whereas the focal pagetoid spread of fat cells is likely related to the same hamartomatous adipose tissue growth that ultimately results in the nevus lipomatosus.

[Colonic Lipomatosis: report of a case and review of the literature]. / Lipomatosis colónica: presentación de un caso y revisión de la literatura.

Colonic lipomas are a rare entity, even lessfrequent colonic lipomatosis (lipohyperplasia) of which we only found very few reports in literature (five cases). We report a case of colonic lipomatosis in a young adult that manifested as acute diverticulitis with perforation and rectalpolyposis requiring surgical resolution.