[Efficacy of coated metal ureteral stent in the treatment of pelvic lipomatosis induced hydronephrosis].

To investigate the initial experience of coated metal ureteral stent (CMUS) for treatment of pelvic lipomatosis induced hydronephrosis (PLH). The clinical and follow-up data of 8 patients who were diagnosed as PLH treated with CMUS in Peking University People's Hospital from August 2018 to February 2021 were retrospectively analyzed. Inclusion criteria included: Imaging evidence of excessive adipose tissue around the bladder in the pelvic cavity, bladder elevation in an "inverted pear shape", and bladder wall thickening; Cystoscopy indicated follicular hyperplasia of bladder mucosa and biopsy pathology indicated glandular cystitis; Unilateral or bilateral hydronephrosis and ureteromegaly. Exclusion criteria included: Ureteral atresia; Recurrent obstruction of the bladder outlet. Preoperative baseline data included age, gender, serum creatinine, pelvis width and ureteric stent symptoms questionnaire (USSQ) score. Intraoperative data included the location and length of ureteral stenosis observed by retrograde urography. Postoperative follow-up data included serum creatinine, pelvis width, and USSQ score. In the study, 8 patients (11 sides) with PLH were all male, with an average age of (38.7±8.6) years. Unilateral hydronephrosis was found in 5 cases and bilateral hydronephrosis in 3 cases. Preoperative mean serum creatinine was (90.0±10.3) µmol/L, and the mean renal pelvis width was (3.0±1.5) cm. The lower ureteral stricture was found in all cases, and the mean stricture length was (1.9±0.9) cm. Before operation, 3 patients had ureteral Double-J stents, with USSQ scores of 97.0, 68.0 and 100.0, respectively. Five patients underwent retrograde CMUS stenting, and 3 patients retrograde and antegrade. At the last follow-up, the average serum creatinine was (82.0±11.1) µmol/L and the mean renal pelvis width was (1.9±0.5) cm, which were significantly lower than those before operation (t=3.12, P=0.02; t=3.23, P=0.02). In the 3 patients with Double-J stent before surgery, the USSQ scores were 87.0, 62.0 and 89.0, respectively, which were significantly improved after CMUS stenting. The average follow-up time was (10.0±6.3) months. During the follow-up, 1 patient developed CMUS related symptoms, and no stent-associated infection and stent encrustation were found. In one case, the stent migrated to the bladder 3 months after operation, and the hydronephrosis disappeared after 3 months follow-up. CMUS stenting for treatment of PLH has certain efficacy and safety, which can explore a new therapeutic method for the long-term treatment of PLH.

A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic condition with well-described skin, ocular, and central nervous system findings. Several case reports have been documented demonstrating the presence of low-grade gliomas in patients with ECCL and the association with certain FGFR1 mutations. We report on a case of diffuse low-grade glioma, mitogen activated protein kinase pathway altered in a patient with ECCL, who was found to have a distinct FGFR1 mutation.

Chronic abdominal distention caused by diffuse nodular ileal and mesenteric lipomatosis: A case report.

RATIONALE: Diffuse intestinal and mesenteric lipomatosis is a rare condition characterized by the overgrowth of adipose tissue in the intestines and mesentery. This case report aims to highlight the rare occurrence of chronic abdominal distention caused by this disease and its unique invasion into the muscle layer, which has not been previously reported. PATIENT CONCERNS: A 36-year-old woman with a 7-year history of abdominal distension was admitted to our hospital's Department of Gastrointestinal Surgery. DIAGNOSE: Abdominal and pelvic computed tomography revealed diffuse small intestinal lipomatosis. INTERVENTIONS: The patient underwent surgery. We performed an open-field ilectomy involving removal of all lipomatous intestines (250 cm). OUTCOMES: During the surgery, diffuse nodular ileal and mesenteric lipomatosis was confirmed, characterized by the presence of multiple nodular lipomas within the submucosal and muscular layers. The surgical intervention involved the resection of 250 cm of the affected ileum, followed by jejunoileal anastomosis. Postoperative pathology confirmed the diagnosis, with lesions observed in both the submucosa and muscle layers. The patient showed significant improvement in symptoms, with normal intestinal function and weight gain observed over a 10-month follow-up period, and no signs of recurrence. LESSONS: Diffuse intestinal and mesenteric lipomatosis can lead to long-term abdominal distension. Additionally, it may be involved in the muscle layer of the intestinal wall. Surgery is the primary treatment option for symptomatic intestinal lipomatosis.

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.

Lipomatous Metaplasia Is Associated With Ventricular Tachycardia Recurrence Following Ablation in Patients With Nonischemic Cardiomyopathy.

BACKGROUND: Ventricular tachycardia (VT) recurrence rates remain high following ablation among patients with nonischemic cardiomyopathy (NICM). OBJECTIVES: This study sought to define the prevalence of lipomatous metaplasia (LM) in patients with NICM and VT and its association with postablation VT recurrence. METHODS: From patients who had ablation of left ventricular VT, we retrospectively identified 113 consecutive NICM patients with preprocedural contrast-enhanced cardiac computed tomography (CECT), from which LM was segmented. Nested within this cohort were 62 patients that prospectively underwent CECT and cardiac magnetic resonance from which myocardial border zone and dense late gadolinium enhancement (LGE) were segmented. A control arm of 30 NICM patients without VT with CECT was identified. RESULTS: LM was identified among 57% of control patients without VT vs 83% of patients without VT recurrence and 100% of patients with VT recurrence following ablation. In multivariable analyses, LM extent was the only independent predictor of VT recurrence, with an adjusted HR per 1-g LM increase of 1.1 (P < 0.001). Patients with LM extent ≥2.5 g had 4.9-fold higher hazard of VT recurrence than those with LM <2.5 g (P < 0.001). In the nested cohort with 32 VT recurrences, LM extent was independently associated with VT recurrence after adjustment for border zone and LGE extent (HR per 1 g increase: 1.1; P = 0.036). CONCLUSIONS: Myocardial LM is prevalent in patients with NICM of a variety of etiologies, and its extent is associated with postablation VT recurrence independent of the degree of fibrosis.

Trigeminal Lipomatosis: A Rare Cause of Intractable Neuralgia.

Lipomatosis of nerve, earlier known as fibrolipomatous hamartoma is a rare condition which predominantly affects peripheral nerves, cranial nerve involvement being extremely uncommon. Preoperative consideration of this entity is of paramount importance as its inadvertent complete surgical resection may inevitably result in significant neurological deficit. We report a case of trigeminal lipomatosis in a young patient with trigeminal neuralgia.

Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.

BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic disorders commonly associated with SDS are well known, emerging data from case reports and patient registries suggest that SDS may also be associated with an increased risk of diabetes mellitus. However, currently available data on SDS-associated diabetes are limited and do not allow conclusions regarding prevalence and incidence rates, clinical course, and outcomes. CASE PRESENTATION: Here we report the case of a 5-year-old girl with SDS who underwent bone marrow transplantation at the age of 3 months and developed autoantibody-positive type 1 diabetes mellitus at the age of 1.8 years. The manifestation and course of diabetes development were mild, complicated by concurrent spontaneous episodes of hypoglycemia even before the onset of antidiabetic treatment. Currently, adequate metabolic control can be achieved by dietary intervention. CONCLUSIONS: Considering that the SBDS protein regulates mitosis and ribosomal biosynthesis and that its suppression may cause immunologic instability and chronic inflammation, this case provides insight into the phenotype of rare Shwachman-Diamond syndrome-associated diabetes mellitus, which may be characterized by significant age-dependent differences in clinical course.

A case of spinal epidural lipomatosis presenting as a stroke mimic.

Here we present the case of a patient with right upper extremity and right lower extremity weakness of a three-day duration, which triggered a stroke evaluation. Ultimately, the diagnosis of spinal epidural lipomatosis (SEL) was made. Non-stroke diagnoses that present with stroke-like symptoms are referred to in the medical literature as stroke mimics. Such cases present with neurological deficits that imitate acute ischemic stroke. The frequency of such presentations occurs in up to 30% of initially suspected stroke. This case illustrates that SEL can present as a stroke mimic. To our knowledge, this is the first description of a presentation in the medical literature of SEL as a stroke mimic.

Facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations caused by nonhotspot phosphatidylinositol 3-kinase catalytic subunit alpha mutation.

We report an unusual case of facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations. In addition to the clinical data and imaging findings, detection of a heterozygous PIK3CA nonhotspot known pathogenic variant C420R in a facial epidermal nevus provided novel insight into the pathogenic effect of somatic PIK3CA mutations.

Correlation of spinal epidural fat volume with body mass index: a longitudinal study.

PURPOSE: Spinal epidural lipomatosis is abnormal accumulation of normal fat in the epidural space with weight loss suggested as first-line therapy in select symptomatic patients. However, moderate to large longitudinal studies establishing concordant changes between body mass index and epidural fat are lacking. The purpose of this study was to longitudinally assess this relationship. METHODS: We performed an ancillary study of the Habitual Diet and Avocado Trial. Baseline and six-month abdominal MRIs were analyzed for 98 overweight or obese but otherwise healthy subjects. Dorsal epidural fat volumes in the lumbar spine were measured and correlated with changes in body mass index, changes in visceral fat volume, and demographic information. RESULTS: There was a linear relationship between body mass index changes and epidural fat volume changes with a one-point change in body mass index corresponding to a 45 mm3 change in dorsal epidural fat volume (p < 0.001, 95% CI 31.87 to 76.77) as well as between visceral fat volume changes and epidural fat volume changes (regression coefficient 0.51, p < 0.001, 95% CI 0.22 to 0.47). Age was inversely related with subjects older than 45.7 years tending to lose epidural fat (regression coefficient -0.22, p = 0.025, 95% CI -10.43 to -0.72). CONCLUSION: Changes in spinal dorsal epidural fat volume parallel changes in body mass index and visceral fat, supporting weight loss as initial treatment for uncomplicated obesity-associated spinal epidural lipomatosis.

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.

A 54-Year-Old Woman with Papillary Thyroid Carcinoma Associated with Secondary Amyloid Goiter and Thyroid Lipomatosis.

BACKGROUND Amyloid deposition in the thyroid gland can be primary or secondary and can result in goiter. There have been previous reports of amyloid goiter and thyroid lipomatosis or fatty infiltration. Papillary thyroid carcinoma is the most common thyroid malignancy. We report a rare case of a 54-year-old woman with papillary thyroid carcinoma associated with secondary amyloid goiter and thyroid lipomatosis. CASE REPORT A 54-year-old woman with chronic pyelonephritis and bronchiectasis presented with compressive symptoms due to an enlarged thyroid gland. Thyroid function test results were in the normal range and serum thyroid autoantibodies and serum calcitonin levels were undetectable. Cervical ultrasound showed a diffusely swollen thyroid and a well-defined nodule in the right lobe, of which fine-needle aspiration cytology was suspicious for follicular neoplasm. Computed tomography showed an enlarged thyroid with low attenuation, suggestive of diffuse lipomatosis of the gland. Total thyroidectomy was performed, and a histopathology study indicated the presence of papillary carcinoma and diffuse lipomatosis of the thyroid gland with amyloid deposition. The patient was later diagnosed with secondary amyloidosis. CONCLUSIONS The presentation of secondary amyloidosis as a diffuse goiter with extensive fatty infiltration must be considered in the differential diagnosis of thyroid enlargement, especially those with rapid onset, and particularly in patients with a history of chronic inflammatory disorders or chronic infections predisposing to amyloid deposition. Rarely, differentiated thyroid carcinoma is found within an amyloid goiter and it must be excluded in the differential diagnosis.