A Rare Neonatal Intramedullary Immature Teratoma Undiagnosed in utero: A Case Report

Background and Importance: Immature teratoma is a known pediatric tumor. However, spinal variants are rare and can present both a diagnostic and therapeutic challenge, particularly regarding aggression as it pertains to extent of resection, likelihood of recurrence and concordant prognosis, and the need and efficacy of adjuvant therapies. Clinical Presentation: The patient is a 27-day-old female who presented with 10 days of poor feeding, irritability, and progressive hypotonia. Although upon immediate presentation emergency providers’ differential diagnoses included meningitis, inborn error of metabolism, and genetic neurodegenerative disease, a subsequent magnetic resonance (MR) imaging of the total spine revealed a large intradural intramedullary mass extending from the medulla to the thoracic cord at T12. The patient underwent multilevel cervical and thoracic laminectomies/laminoplasty for maximal safe resection. Histopathology revealed mostly mature tissue elements originating from all 3 germ layers, interspersed with foci of immature neuroepithelium, consistent with grade 1 immature teratoma. Following surgical intervention, the patient regained strength and spontaneous movement and underwent physical therapy. Follow-up MR imaging of the total spine was obtained every 3 months, and at 9 months, recurrence was demonstrated, which was successfully treated with chemotherapy. Further surveillance MR imaging of the total spine has demonstrated cystic myelomalacia changes without definite tumor recurrence, at 5-year follow-up. Clinically, the patient has developed scoliosis without weakness, pain, or urinary symptoms. Conclusion: This case demonstrates an exceptionally rare and unusual variant neoplasm in a neonate and highlights the difficulty of diagnosis and the important role of MR imaging. It also illustrates the importance of gross total resection, the risk of recurrence, and the need for close radiographic follow-up of these lesions. It also provides a useful example of the efficacy of adjuvant chemotherapy in treating recurrence.

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FRI0212 THE ROLE OF AGE ON THE CLINICAL PRESENTATION AND RELAPSE RATES IN A LARGE COHORT OF 720 PATIENTS WITH GIANT CELL ARTERITIS

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.3779 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 689.1-690

Author(s):

S. Monti ◽

L. Dagna ◽

C. Campochiaro ◽

A. Tomelleri ◽

G. Zanframundo ◽

...

Keyword(s):

Giant Cell Arteritis ◽

Giant Cell ◽

Relapse Rate ◽

Clinical Presentation ◽

Age Groups ◽

Age At Diagnosis ◽

First Relapse ◽

Time To Relapse

Background:Giant cell arteritis (GCA) is the most frequent systemic vasculitis after the age of 50 years old. Recent interest in the processes of immune and vascular aging have been proposed as a disease risk factor. Data on the impact of age at diagnosis of GCA on the clinical course of the disease are scarceObjectives:To assess the role of age at diagnosis of GCA on the risk and time to relapseMethods:Centres participating in the Italian Society of Rheumatology Vasculitis Study Group retrospectively enrolled patients with a diagnosis of GCA until December 2019. The cohort was divided in tertiles according to age at diagnosis (≤ 72; 73-79; > 79 years old). Negative binomial regression was used to assess the relapse rate according to age groups, and Cox regression for time to first relapse.Results:Of 720 patients enrolled in 14 Italian reference centres, 711 had complete follow-up data (female 50%; mean age 75±7). Median follow-up duration was 34 months (IQR 16;70). Patients in the older group at diagnosis (> 79 years) had more frequent visual loss compared to the 73-79 and ≤ 72 age groups (31% vs 20% vs 7%; p<0.001), but lower rates of general symptoms (56% vs 70% vs 77%; p<0.001). Large-vessel (LV)-GCA was less frequent in the older group (18% vs 22% vs 43%; p<0.001). At least one relapse occurred in 47% of patients. Median time to relapse was 12 months (IQR 6;23). Age did not influence the rate of relapses [18 per 100 persons/years (95%CI 15;21) vs 19 (95% CI 17;22) vs 19 (95%CI 17;22)], nor the time to first relapse (Figure 1). LV-GCA, presentation with significantly elevated c-reactive protein (> 50 mg/L) and general symptoms were independent predictors of relapse.Conclusion:Age at diagnosis of GCA influenced the clinical presentation and risk of ischaemic complications, but did not affect the relapse rate during follow-up. LV-GCA occurred more frequently in younger patients and was an independent predictor of relapse risk, highlighting the need for a correct characterization of the clinical subtype at the early stages of disease.Disclosure of Interests:Sara Monti: None declared, Lorenzo Dagna Grant/research support from: Abbvie, BMS, Celgene, Janssen, MSD, Mundipharma Pharmaceuticals, Novartis, Pfizer, Roche, SG, SOBI, Consultant of: Abbvie, Amgen, Biogen, BMS, Celltrion, Novartis, Pfizer, Roche, SG, and SOBI, Corrado Campochiaro Speakers bureau: Novartis, Pfizer, Roche, GSK, SOBI, Alessandro Tomelleri: None declared, Giovanni Zanframundo: None declared, Catherine Klersy: None declared, Francesco Muratore: None declared, Luigi Boiardi: None declared, Roberto Padoan: None declared, Mara Felicetti: None declared, Franco Schiavon: None declared, Milena Bond: None declared, Alvise Berti: None declared, Roberto Bortolotti: None declared, Carlotta Nannini: None declared, Fabrizio Cantini: None declared, Alessandro Giollo: None declared, Edoardo Conticini: None declared, angelica gattamelata: None declared, Roberta Priori: None declared, Luca Quartuccio Consultant of: Abbvie, Bristol, Speakers bureau: Abbvie, Pfizer, Elena Treppo: None declared, Giacomo Emmi: None declared, Martina Finocchi: None declared, Giulia Cassone: None declared, Ariela Hoxha Speakers bureau: Celgene, UCB, Novartis, Sanofi, Werfen, Rosario Foti Consultant of: lilly, sanofi, MSD, Janssen, Abbvie, BMS, celgene, roche, Speakers bureau: lilly, sanofi, MSD, Janssen, Abbvie, BMS, celgene, roche, Michele Colaci: None declared, Roberto Caporali Consultant of: AbbVie; Gilead Sciences, Inc.; Lilly; Merck Sharp & Dohme; Celgene; Bristol-Myers Squibb; Pfizer; UCB, Speakers bureau: Abbvie; Bristol-Myers Squibb; Celgene; Lilly; Gilead Sciences, Inc; MSD; Pfizer; Roche; UCB, Carlo Salvarani: None declared, Carlomaurizio Montecucco: None declared

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Diagnosis, staging, and follow-up of pelvic tumors: The role of MR imaging

MRI Manual of Pelvic Cancer ◽

10.3109/9781841848877.001 ◽

2011 ◽

pp. 1-2

Author(s):

Bernadette M. Carrington

Keyword(s):

Mr Imaging ◽

Pelvic Tumors

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Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up

Journal of Neurosurgery ◽

10.3171/2010.8.jns091900 ◽

2011 ◽

Vol 114 (3) ◽

pp. 756-762 ◽

Cited By ~ 59

Author(s):

Augusto Gonzalvo ◽

Adam Fowler ◽

Raymond John Cook ◽

Nicholas Scott Little ◽

Helen Wheeler ◽

...

Keyword(s):

Mr Imaging ◽

Disease Onset ◽

Neurofibromatosis Type ◽

Extent Of Resection ◽

Spinal Nerve ◽

Specific Information ◽

Experienced Pain ◽

Familial Form ◽

Long Term Follow Up

Object The aim of this study was to provide disease-specific information about schwannomatosis in its different forms and to present 2 particular cases of malignant schwannomas in the context of familial schwannomatosis (FS). Methods The authors analyzed patients with pathologically defined schwannomas and identified those with varied forms of schwannomatosis. Each case was retrospectively analyzed for patient sex and age, number of operations and tumors excised, symptoms, location and size of tumors, extent of resection, nerve function pre- and postoperatively, complications, other nonsurgically treated tumors, malignancy, results of brain MR imaging, and follow-up data. Results One hundred fifty-eight patients underwent the excision of 216 schwannomas. One hundred forty-two patients presented with solitary schwannomas, 2 had neurofibromatosis Type 2 (NF2), and 14 presented with schwannomatosis. The average follow-up was 52 months. Six individuals had sporadic schwannomatosis, whereas 8 had the familial form of the disease. These 14 patients had an average age of 28.3 years at the time of disease onset (median 27.5 years) and 35.4 years at the time of the first operation (median 37 years) Thirteen of the 14 patients with schwannomatosis experienced pain as the first symptom. Eight (57%) of the 14 patients presented with at least 1 tumor in the spinal canal or attached to the spinal nerve roots. Malignant schwannomas developed in 2 patients from the same family during the follow-up. Conclusions Patients suffering from schwannomatosis tend to be younger than those presenting with solitary schwannomas. Therefore, individuals presenting at a young age with multiple schwannomas but not meeting the criteria for NF2 should prompt the physician to suspect schwannomatosis. Patients with schwannomatosis who report pain should be exhaustively examined. The spine is affected in the majority of patients, and MR imaging of the spine should be part of the routine evaluation. Rapid enlargement of schwannomas in the context of FS should raise suspicion of malignant transformation.

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Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype

Digestive Diseases ◽

10.1159/000450984 ◽

2017 ◽

Vol 35 (3) ◽

pp. 259-260 ◽

Cited By ~ 4

Author(s):

Frédéric M. Vaz ◽

Hidde H. Huidekoper ◽

Coen C. Paulusma

Keyword(s):

Bile Salts ◽

Clinical Presentation ◽

Enterohepatic Circulation ◽

Sodium Taurocholate ◽

Elevated Plasma ◽

Mild Phenotype ◽

Functional Studies ◽

Conjugated Bile Salts

We present the first patient with a defect in the Na+-taurocholate cotransporting polypeptide SLC10A1 (NTCP), which plays a key role in the enterohepatic circulation of bile salts. The clinical presentation of the child was mild and the child showed no signs of liver dysfunction or pruritus despite extremely elevated plasma bile salt levels (>100-fold upper-limit of normal). A homozygous point mutation was found in the SLC10A1 gene (resulting in amino acid change R252H) and functional studies confirmed the pathogenicity of the mutation. This confirms the role of NTCP as the major transporter of conjugated bile salts into the liver as part of the enterohepatic circulation and shows that other transporters partly can take over its function, resulting in a relatively mild phenotype. This work was published previously in [Vaz et al.: Hepatology 2015;61:260-267] and supplemented with some follow-up information of the patient.

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Long-term Follow-up After Radiofrequency Catheter Ablation of Atrial Fibrillation: Role of the Acute Procedure Outcome and of the Clinical Presentation

Yearbook of Cardiology ◽

10.1016/s0145-4145(07)70264-2 ◽

2006 ◽

Vol 2006 ◽

pp. 438

Author(s):

A.L. Waldo

Keyword(s):

Atrial Fibrillation ◽

Catheter Ablation ◽

Radiofrequency Catheter Ablation ◽

Clinical Presentation ◽

Long Term Follow Up

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P-085 Long term follow-up after catheter ablation of atrial fibrillation: Role of clinical presentation, acute procedural success and absence of early recurrence as predictors of arrhythmia free survival

EP Europace ◽

10.1016/s1099-5129(03)91837-x ◽

2003 ◽

Vol 4 ◽

pp. B86-B87 ◽

Cited By ~ 1

Author(s):

M CASELLA

Keyword(s):

Atrial Fibrillation ◽

Catheter Ablation ◽

Clinical Presentation ◽

Early Recurrence ◽

Free Survival ◽

Long Term Follow Up ◽

Procedural Success

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Effect of cannabis consumption on characteristics and evolution of thromboangitis obliterans

VASA ◽

10.1024/0301-1526/a000948 ◽

2021 ◽

pp. 1-5

Author(s):

Guillaume Bergère ◽

Claire Toquet ◽

Clément Hoffmann ◽

Luc Bressollette ◽

Alizée Raimbeau ◽

...

Keyword(s):

Clinical Characteristics ◽

Clinical Presentation ◽

Thromboangiitis Obliterans ◽

Tobacco Exposure ◽

Free Survival ◽

Younger Age ◽

Arterial Involvement ◽

Cannabis Consumption

Summary: Background: Thromboangiitis obliterans (TAO) is a distal non atherosclerotic thrombotic vasculitis affecting tobacco smokers. The role of cannabis co-exposure remains controversial. The study aims to assess how cannabis consumption influences clinical presentation and outcome of TAO in tobacco smokers. Patients and methods: TAO patients, according to Papa’s criteria, were included in a retrospective bicentric study between the 1st January 2003 and the 1st march 2020. Clinical characteristics, arterial involvement at TAO diagnosis, vascular event and amputations during follow-up were analyzed according to cannabis consumption. Results: Seventy-three patients with TAO patients were included. Forty-five patients were in Tobacco group (T) and 28 in Tobacco and cannabis group (T&C). Tobacco exposure was less important in T&C group than in T group (19.4±11.3 vs 31.6±16.6 pack-years) (p=0.005) and patients in T&C group were younger at TAO diagnosis than in T group (p=0.008). Patients in T&C group presented more claudication (33.3% vs 8.9%, p=0.01) and less upper limbs resting ischemia (25.9% vs 51.1%, p=0.04) than patients in the T group. No differences were found between groups with regard to arterial distribution. Amputation rate for patients who had at least one major or minor amputation did not differ between T and T&C group (25% vs 14.8%, p=0.38). Conclusions: Cannabis consumption was associated with a younger age of TAO onset. However, it does not affect amputation-free survival, Tobacco exposure is less important in T&C patients; data of this bicentric study suggest that cannabis could be a cofactor of tobacco which accelerates TAO onset.

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Outcomes following myxopapillary ependymoma resection: the importance of capsule integrity

Neurosurgical FOCUS ◽

10.3171/2015.5.focus15164 ◽

2015 ◽

Vol 39 (2) ◽

pp. E8 ◽

Cited By ~ 20

Author(s):

Mohammed Abdulaziz ◽

Grant W. Mallory ◽

Mohamad Bydon ◽

Rafael De la Garza Ramos ◽

Jason A. Ellis ◽

...

Keyword(s):

Recurrence Rate ◽

Adjuvant Radiotherapy ◽

Extent Of Resection ◽

Subtotal Resection ◽

Myxopapillary Ependymoma ◽

Adjuvant Radiation ◽

Recurrence Rates ◽

En Bloc

OBJECT While extent of resection has been shown to correlate with outcomes after myxopapillary ependymoma (MPE) resection, the effect of capsular violation has not been well studied. The role of adjuvant radiation also remains controversial. In this paper the authors' goals were to evaluate outcomes following resection of MPE based on intraoperative capsular violation and to explore the role of adjuvant radiotherapy in cases of capsular violation. METHODS A retrospective review of patients undergoing resection of MPE at 2 academic institutions between 1990 and 2013 was performed. Cases with dissemination at presentation, less than 12 months of follow-up, or incomplete records were excluded. Extent of resection was defined as en bloc if all visible tumor was removed without capsular violation, gross-total resection (GTR) if all visible tumor was removed, but with capsular violation, and subtotal resection (STR) if a known residual was left at the time of surgery. Postoperative MR images were reviewed to confirm the extent of resection. Primary outcomes were progression-free survival (PFS) and overall recurrence rates. The effects of extent of resection, capsular violation, and adjuvant radiotherapy on recurrence rates and PFS were analyzed using Kaplan-Meier statistics. Associations between recurrence and preoperative variables were evaluated using Fisher exact methods and t-tests where appropriate. RESULTS Of the 107 patients reviewed, 58 patients (53% were male) met inclusion criteria. The mean age at surgery was 40.8 years (range 7–68 years). The median follow-up was 51.5 months (range 12–243 months). Extent of resection was defined as en bloc in 46.5% (n = 27), GTR in 34.5% (n = 20), and STR in 18.9% (n = 11). No recurrences were noted in the en bloc group, compared with 15% (n = 3) and 45% (n = 5) in the GTR and STR groups. En bloc resection was achieved most frequently in tumors involving the conus. Twelve patients (20%) underwent adjuvant radiotherapy following either STR or GTR. The overall recurrence rate was 13.8% (n = 8), and the 5-year PFS was 81%. Capsular violation was associated with a higher recurrence rate (p = 0.005). Adjuvant radiotherapy showed a nonsignificant trend of lower recurrence rates (16.7% vs 31.6%, p = 0.43) and longer PFS at 5 years (83.3% vs 49.9%, p = 0.16) in cases of capsular violation. CONCLUSIONS A strong correlation between capsular violation and recurrence was found following removal of MPE and should be assessed when defining extent of resection in future studies. Although the use of adjuvant radiotherapy in cases of capsular violation showed a trend toward improved PFS, further investigation is needed to establish its role as salvage therapy also appears to be effective at halting disease progression.

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