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.

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.

[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 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.

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.

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.

Encephalocraniocutaneous lipomatosis (Haberland syndrome) in a newborn baby: a case report with review of literature.

Encephalocraniocutaneous lipomatosis (ECCL) is an extremely uncommon, neurocutaneous disease, with a classical triad of ocular, skin lesions and central nervous system anomalies. We here report a case of ECCL in a newborn baby, characterized with naevus psiloliparus, choristoma, lipodermoids, cervical subcutaneous soft tissue mass, lowset ear, porencephalic cyst, polymicrogyria, arachnoid cyst, leptomeningeal angiomatosis and spinal lipomas. We here stress on the importance of early diagnosis to prevent misdiagnosis and employ a multidisciplinary approach in the management of these patients.

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.

Urodynamic characteristics of pelvic lipomatosis with glandular cystitis patients correlate with morphologic alterations of the urinary system and disease severity.

AIMS: To explore urodynamic characteristics and their clinical value in pelvic lipomatosis (PL) patients. METHODS: We reviewed the clinical information of 84 PL patients. A voiding pressure-flow study was used to classify patients into nonoutlet obstruction (NOO), latter-half-section obstruction (LHSO), or whole-section bladder outlet obstruction (BOO) groups. Urinary morphologic features were measured by imaging examination and cystoscopy. RESULTS: A unique LHSO that presented as sudden increasing detrusor pressure (Pdet) and decreasing flow rate in the latter half of voiding was observed for 52.4% (44 of 84) patients. Overall, 27.4% (23 of 84 patients) were diagnosed with BOO with whole-section increasing Pdet and decreasing flow rate. According to the morphologic feature analyses, the NOO patients had the largest angle of anteroposterior vesical walls (P < 0.001) and the least severe thickened bladder trigone (P = 0.015). The external compression at the bladder neck and thickened bladder trigone caused a prolonged and strictured bladder outlet tract (see the Supplementary video). There were 0, 5, and 4 urinary diversions performed in the NOO, LHSO, and BOO groups at diagnosis (P = 0.055). No patients in the NOO group, seven in the LHSO group, and two patients in the BOO group had disease progression at follow-up. Two LHSO patients and one BOO patients without hydronephrosis at diagnosis developed to hydronephrosis during follow-up. CONCLUSIONS: Morphologic alterations of the urinary system of PL patients lead to unique LHSO or BOO on UDS. The presences of LHSO and BOO are associated with disease severity and progression.

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.

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.

BACKGROUND: For the final step of the maturation of the ribosome, the nascent 40S and 60S subunits are exported from the nucleus to the cell cytoplasm. To prevent premature association of these ribosomal subunits, eukaryotic initiation factor 6 (eIF6) binds the 60S subunit within the nucleus. Its release in the cytoplasm requires the interaction of EFL1 and SDBS proteins. In Shwachman-Diamond syndrome (SDS), a defective SDBS protein prevents eIF6 eviction, inhibiting its recycle to the nucleus and subsequent formation of the active 80S ribosome. OBJECTIVE: This study aims to identify the molecular basis of an SDS-like disease, manifested by pancytopenia, exocrine pancreatic insufficiency and skeletal abnormalities in six patients from three unrelated families. METHODS: Whole exome analysis was used for mutation identification. Fluorescence microscopy studies assessed the localisation of Tif6-GFP, the yeast eIF6 homologue, in yeast WT and mutant cells. Human and yeast EFL1 proteins, WT and mutants, were expressed in Saccharomyces cerevisiae BCY123 strain, and circular dichroism and small-angle X-ray scattering were used to assess the folding and flexibility of these proteins. Green malachite colorimetric assay was performed to determine the GTPase activity of WT and Efl1 mutants. RESULTS: Four patients were homozygous for p.R1095Q variant and two patients were homozygous for p.M882K variant in EFL1. Residue R1095 and M882 are conserved across species. Neither the GTPase activity of the mutant proteins nor its activation by the SDBD protein or the 60S ribosomal subunit were affected. Complementation of efl1Δ yeast cells with the EFL1 mutants rescued the slow growth phenotype. Nonetheless, Tif6-GFP was relocalised to the cytoplasm in mutant yeast cells in contrast to its nuclear localisation in WT cells. CONCLUSIONS: Mutations in EFL1 clinically manifest as SDS-like phenotype. Similar to the molecular pathology of SDS, mutant EFL1 proteins do not promote the release of cytoplasmic Tif6 from the 60S subunit, likely preventing the formation of mature ribosomes.

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.

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 and Literature Review.

RATIONALE: Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder characterized by collections of nonencapsulated mature lipocytes that infiltrate surrounding tissues. In this article, we would report a new case of CILF, which may be one of the first few cases reported in China. PATIENT CONCERNS: An 8-year-old boy presented with a hyperplasia of subcutaneous tissue of his left face, which had been gradually progressing since birth, resulting in a marked facial asymmetry. Then he underwent an operation of resection of the subcutaneous mass, and the postoperative pathological analysis reported a mature adipose tissue. DIAGNOSES AND OUTCOMES: The diagnosis of CILF was finally made according to a comprehensive consideration of the patient's situation. We then searched different databases for studies that had investigated CILF, reviewed those literatures, and gave our summaries for such a rare disease. LESSONS: Congenital infiltrating lipomatosis of the face is an extremely rare disease. There is so much unknown about it, and the gradual progress and recurrence make it even harder to cure. Besides, the psychological impact on such patients must be considered. Thus, a proper collection and analysis of the reports of such a disease are very important.

Macrodystrophia Lipomatosa.

Macrodystrophia lipomatosa is an exceedingly rare overgrowth of mesenchymal and fibroadipose tissue manifesting as a form of gigantism affecting one or more digits on the distal upper or lower extremities. We present a 25-year-old man who presented with overgrowth of the right hand associated with occasional pain, numbness, and limited function who was found to have macrodystrophia lipomatosa with fibrolipomatous hamartoma of the median nerve. Reports of this condition are limited in the dermatology literature, and early recognition can lead to better outcomes.

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

BACKGROUND: The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss. METHODS: Patients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome-specific gene mutations. Hearing loss was measured by pure tone audiometry and otologic abnormalities by otomicroscopy. RESULTS: Patients included 33 with FA, 37 with DC, 32 with DBA, and nine with SDS. Hearing loss was most frequent in patients with FA (45%) and DBA (14%). The most common type of hearing loss in FA was conductive (65%). Absent or hypoplastic radius, noted in 21% of the patients with FA, was associated with hearing loss in all cases. Otomicroscopy was abnormal in 66% of patients with FA. Characteristic ear abnormalities included small tympanic membrane (66%), malformed malleus (57%), aberrant tympanic bony island (48%), narrow external auditory canal (EAC) (32%), and abnormal course of chorda tympani (34%). Ear malformations were almost always associated with hearing loss. Hearing loss was rare in patients with DC and SDS. CONCLUSIONS: FA is the major IBMFS with associated hearing loss, which is most commonly conductive. Radial hypoplasia or aplasia and characteristic congenital ear malformations are associated with hearing loss in patients with FA. Recognition of these syndrome-specific abnormalities should lead to earlier management of hearing loss.