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.

Is There any Link between Madelung Disease and Ischemic Stroke? A Case Report.

A 70-year-old man presented to the Emergency Department with left hemiparesis, slurred speech, and elevated blood pressure. A brain computed tomography scan revealed an ischemic lesion in the right frontal and parietal lobes. At clinical examination bilateral pseudo gynecomastia was detected together with the presence of multiple elastic, adipose bulging masses on the neck, trunk, and upper limbs. A type I-II Lanois-Bensaude syndrome was diagnosed. Ultrasonography confirmed their adipose nature. Multiple symmetric lipomatosis, also known as Lanois-Bensaude syndrome or Madelung disease, is a very rare condition with extreme variability in its clinical presentation. The simultaneous occurrence of ischemic stroke and lipomatosis in the same patient might be due to a mitochondrial function impairment, which could lead to abnormal fat tissue distribution and defective cellular energy production, thus resulting in neuronal sufferance and death. The possibility that, in our case, lipomatosis could have represented a further risk factor in promoting the stroke occurrence is discussed. In our opinion, multiple symmetric lipomatosis must be carefully evaluated to improve the patients' quality of life.

Extensive Symptomatic Thoracolumbar Epidural Lipomatosis Treated With Minimally Invasive Hemilaminectomies: Technical Case Report.

BACKGROUND AND IMPORTANCE: Spinal epidural lipomatosis is a rare condition commonly associated with chronic corticosteroid use and obesity that involves deposition of adipose tissue in the epidural space of the spinal canal. This accumulation of adipose tissue may cause compression of the spinal cord and/or nerve roots and result in compressive symptoms such as myelopathy or radiculopathy. Spinal involvement is usually confined to either the thoracic or lumbar spine but can infrequently affect both regions. Depending on pre-existing conditions, treatment options include weight loss and discontinuation of exogenous steroid use, both of which have been shown to be effective therapeutic methods. Surgical decompression may be useful for appropriately selected patients in whom conservative therapy has failed or who experience acute neurological deterioration, although this is rarely indicated. CLINICAL PRESENTATION: In this study, we describe a patient receiving long-term corticosteroid therapy who presented with symptomatic epidural lipomatosis that involved the thoracic and lumbar spine. She was treated with decompression by continuous T3-L5 hemilaminectomies performed through 5 small incisions of alternating laterality. After surgery, the patient experienced clinical improvement and was able to return to her baseline. CONCLUSION: We illustrate a successful spinal decompression of extensive epidural lipomatosis through a less-invasive surgical approach using several small incisions to accomplish uninterrupted hemilaminectomies. This alternative approach to a standard continuous incision can be considered in cases of extensive spinal epidural lipomatosis in patients with multiple medical comorbidities in whom wound healing is believed to be an issue and for whom minimizing blood loss is crucial.

Etiologies and Outcomes of Spinal Epidural Lipomatosis: Systematic Review of the Literature and Meta-Analysis of Reported Cases.

STUDY DESIGN: This was a systematic review of the literature. OBJECTIVE: The aim was to examine the contemporary demographics, etiological factors, treatment options and outcomes of spinal epidural lipomatosis (SEL) in adults. SUMMARY OF BACKGROUND DATA: SEL is primarily seen in obese patients as well as those on steroid therapy. Much regarding the etiology and treatment outcomes of SEL is unknown. METHODS: We reviewed Ovid MEDLINE, PubMed, SCOPUS, and Google Scholars databases from 1990 through August 2020 to identify cases of SEL. Data collected included patient characteristics, disease associations, level of pathology, treatment, and clinical outcomes. RESULTS: Ninety articles (145 individual cases) were included in the analysis. The median age was 54 years and 79% were males. Obesity-associated SEL constituted the largest proportion (52%) of our cohort. 22% of SEL cases were related to steroid use, while 26% cases were considered to be idiopathic. Lumbosacral SEL was the most frequently reported level of disease (68.9%), followed by the thoracic level (26.2%). The mean age of cases who underwent surgical intervention was 55 years, as compared with 48 years in those who received conservative management ( P =0.03). 95% of patients reported some degree of symptomatic improvement regardless of the treatment modality. Logistic regression suggested a possible superior outcome associated with those undergoing surgical treatment. CONCLUSION: In contrast to historical comparisons, contemporary articles support that obesity has become the major contributing factor for SEL. Logistic regression of the existing cases suggests that there may be a role for surgical intervention in select patients.

Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?

BACKGROUND: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. There is considerable variation in the phenotypes of SDS. We present a case of an infant presenting with SDS and left-sided ptosis. OBSERVATION: We report a case of an infant who presented with 2 episodes of severe sepsis and cytopenia, without overt symptoms of exocrine pancreatic deficiency or skeletal abnormalities. Persistent left-sided ptosis was noted in both presentations. Genetic testing confirmed the diagnosis of SDS. The left-sided ptosis was diagnosed as congenital myogenic ptosis. CONCLUSION: The association of ptosis and other congenital bone marrow failure syndromes is well established, but this is the first description of SDS with ptosis. This association may expand our understanding of SDS phenotypes if similar cases are reported in the future.