Pediatric cerebellopontine angle and internal auditory canal tumors

2013 ◽  
Vol 12 (4) ◽  
pp. 317-324 ◽  
Author(s):  
Michelle A. Holman ◽  
William R. Schmitt ◽  
Matthew L. Carlson ◽  
Colin L. W. Driscoll ◽  
Charles W. Beatty ◽  
...  
Keyword(s):  
Family History ◽  
Diagnostic Criteria ◽  
Cerebellopontine Angle ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Internal Auditory Canal ◽  
Neurofibromatosis Type ◽  
History Of

Object The aim in this study was to describe the clinical presentation, differential diagnosis, and risk for neurofibromatosis Type 2 (NF2) in pediatric patients presenting with cerebellopontine angle (CPA) and internal auditory canal (IAC) tumors. Methods The authors conducted a retrospective study at a tertiary care academic referral center. All patients with an age ≤ 18 years who had presented with an extraaxial CPA or IAC tumor between 1987 and 2012 were included in the study cohort. Data regarding symptoms, diagnosis, tumor characteristics, and NF2 status were collected and analyzed. Results Sixty patients (55% female, 45% male) harboring 87 tumors were identified. The mean age at diagnosis was 12.8 years (median 14.0 years, range 0.9–18.9 years). Schwannomas were the most commonly identified lesions (57 of 87 tumors, including 52 vestibular, 3 facial, and 2 trigeminal schwannomas), followed by meningiomas (5 of 87) and epidermoid cysts (4 of 87). Six malignant tumors were diagnosed, including small-cell sarcoma, squamous cell carcinoma, malignant meningioma, atypical rhabdoid-teratoid tumor, endolymphatic sac tumor, and malignant ganglioglioma. Headache, followed by hearing loss and imbalance, was the most common presenting symptom, whereas dysphagia, otalgia, and facial pain were uncommon. Neurofibromatosis Type 2 was diagnosed in 20 (61%) of 33 patients with vestibular schwannoma (VS), while the other 13 patients (39%) had sporadic tumors. Nineteen of the 20 patients with NF2 met the diagnostic criteria for that disorder on initial presentation, and 15 of them presented with bilateral VS. At the last follow-up, 19 of the 20 patients subsequently diagnosed with NF2 demonstrated bilateral VSs, whereas 1 patient with a unilateral VS and multiple other NF2-associated tumors has yet to demonstrate a contralateral VS to date. Only 1 patient presenting with an isolated unilateral VS and no family history of NF2 demonstrated a contralateral VS on subsequent radiological screening. Conclusions Cerebellopontine angle and IAC tumors in the pediatric population are rare. There are several noteworthy differences between the adult and pediatric populations harboring these lesions. While VS is the most common pathology in both age groups, the lesion was found in only 60% of the pediatric patients in the present study. Unlike in adults, VSs in the pediatric population were associated with NF2 in over one-half of all cases. The majority of pediatric patients with NF2 fulfilled the diagnostic criteria at initial presentation; however, approximately 7% of patients presenting with a seemingly sporadic (no family history of NF2) unilateral VS will meet the criteria for NF2 later in life. Finally, malignancies account for a significantly higher percentage (10%) of cases among pediatric patients. These findings underscore the importance of early screening and close radiological follow-up and may be helpful in patient counseling.

scholarly journals Vitamin D status and risk of type 2 diabetes in the Norwegian HUNT cohort study: does family history or genetic predisposition modify the association?

2021 ◽  
Vol 9 (1) ◽  
pp. e001948
Author(s):  
Marion Denos ◽  
Xiao-Mei Mai ◽  
Bjørn Olav Åsvold ◽  
Elin Pettersen Sørgjerd ◽  
Yue Chen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Genetic Predisposition ◽  
Effect Modification ◽  
P Value ◽  
Family History Of Diabetes ◽  
Increased Risk ◽  
History Of

IntroductionWe sought to investigate the relationship between serum 25-hydroxyvitamin D (25(OH)D) level and the risk of type 2 diabetes mellitus (T2DM) in adults who participated in the Trøndelag Health Study (HUNT), and the possible effect modification by family history and genetic predisposition.Research design and methodsThis prospective study included 3574 diabetes-free adults at baseline who participated in the HUNT2 (1995–1997) and HUNT3 (2006–2008) surveys. Serum 25(OH)D levels were determined at baseline and classified as <50 and ≥50 nmol/L. Family history of diabetes was defined as self-reported diabetes among parents and siblings. A Polygenic Risk Score (PRS) for T2DM based on 166 single-nucleotide polymorphisms was generated. Incident T2DM was defined by self-report and/or non-fasting glucose levels greater than 11 mmol/L and serum glutamic acid decarboxylase antibody level of <0.08 antibody index at the follow-up. Multivariable logistic regression models were applied to calculate adjusted ORs with 95% CIs. Effect modification by family history or PRS was assessed by likelihood ratio test (LRT).ResultsOver 11 years of follow-up, 92 (2.6%) participants developed T2DM. A higher risk of incident T2DM was observed in participants with serum 25(OH)D level of<50 nmol/L compared with those of ≥50 nmol/L (OR 1.72, 95% CI 1.03 to 2.86). Level of 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in adults without family history of diabetes (OR 3.87, 95% CI 1.62 to 9.24) but not in those with a family history (OR 0.72, 95% CI 0.32 to 1.62, p value for LRT=0.003). There was no effect modification by PRS (p value for LRT>0.23).ConclusionSerum 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in Norwegian adults. The inverse association was modified by family history of diabetes but not by genetic predisposition to T2DM.

Sporadic unilateral vestibular schwannoma in the pediatric population

2009 ◽  
Vol 4 (2) ◽  
pp. 125-129 ◽  
Author(s):  
Brian P. Walcott ◽  
Ganesh Sivarajan ◽  
Bronislava Bashinskaya ◽  
Douglas E. Anderson ◽  
John P. Leonetti ◽  
...  
Keyword(s):  
Facial Nerve ◽  
Tumor Size ◽  
Pediatric Population ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nerve Function ◽  
Facial Nerve Function ◽  
Duration Of Symptoms

Object Vestibular schwannomas (VSs) are rare in the pediatric population. Most often, these lesions manifest as a bilateral disease process in the setting of neurofibromatosis Type 2. Even in the absence of additional clinical diagnostic criteria, the presentation of a unilateral VS in a young patient may be a harbinger of future penetrance for this hereditary tumor syndrome. Methods The authors retrospectively reviewed the charts of a cohort of 7 patients who presented with apparently sporadic, unilateral VSs. These patients had previously undergone surgery via translabyrinthine, retrosigmoid, or combined approaches. Clinical outcomes were reviewed with emphasis on facial nerve function and follow-up for signs and symptoms of a heritable disorder. Results All patients underwent microsurgical resection in a multidisciplinary effort by the senior authors. The average tumor size was 4.57 cm, with an average duration of symptoms prior to definitive diagnosis of 31.2 months. The tumor size at the time of presentation followed a trend different from reports in adults, while the duration of symptoms did not. At a follow-up average of 6.3 years (range 1–12 years), 100% of patients demonstrated good facial function (House-Brackmann Grade I or II). No patient in this cohort demonstrated symptoms, objective signs, or genetic analysis indicating the presence of neurofibromatosis Type 2. Conclusions Diagnosis and management of sporadic, unilateral VSs in children is complicated by clinical presentations and surgical challenges unique from their adult counterparts. Careful consideration should be given to a heritable genetic basis for sporadic unilateral VS in the pediatric population. Results of genetic testing do not preclude the necessity for long-term follow-up and systemic investigation. In patients who present with large tumors, preliminary experience leads the authors to suggest that a combined retrosigmoid-translabyrinthine approach offers the greatest opportunity for preservation of facial nerve function.

FAMILY HISTORY OF DIABETES IS ASSOCIATED WITH INCREASED RISK OF RECURRENT DIABETIC KETOACIDOSIS IN PEDIATRIC PATIENTS

2020 ◽  
Vol 26 (3) ◽  
pp. 305-311
Author(s):  
Janaki D. Vakharia ◽  
Sungeeta Agrawal ◽  
Janine Molino ◽  
Lisa Swartz Topor
Keyword(s):  
Diabetes Mellitus ◽  
Family History ◽  
Diabetic Ketoacidosis ◽  
Pediatric Patients ◽  
Incidence Rate Ratio ◽  
Family History Of Diabetes ◽  
Increased Risk ◽  
History Of

Objective: To determine the relationship between family history of diabetes mellitus (DM) and diabetic ketoacidosis (DKA) recurrence in youth with established type 1 diabetes mellitus (T1DM). Methods: We performed a retrospective chart review of patients with DKA admitted to a pediatric hospital between January, 2009, and December, 2014. We compared patients with recurrent (≥2 admissions) and nonrecurrent DKA (1 admission) and investigated patient level factors, including family history, that may be associated with DKA recurrence in pediatric patients with established T1DM. Results: Of the 131 subjects in the study, 51 (39%) subjects were in the recurrence group. Age ≥15 years old, public health insurance, and family history of T1DM or type 2 diabetes mellitus were associated with recurrent DKA admissions in both univariable and multivariable analyses. Family history was associated with DKA recurrence, with an incidence rate ratio of 1.5 (95% confidence interval = 1.0 to 2.3; P = .03). The association was not explained by type of familial diabetes, first degree relative status, or whether the family member lived in the household. Conclusion: Recognition that a positive family history of DM may be associated with a higher risk for DKA recurrence in patients with established T1DM may allow for targeted education and focus on a previously unidentified population at increased risk for DKA. Understanding the mechanism underlying the effect of family history of diabetes on the rates of DKA in patients with established T1DM may allow for improved identification and education of patients who may be at risk for DKA recurrence. Abbreviations: CI = confidence interval; DKA = diabetic ketoacidosis; EHR = electronic health record; IBD = inflammatory bowel disease; IRR = incidence rate ratio; T1DM = type 1 diabetes mellitus; T2DM = type 2 diabetes mellitus

scholarly journals The related risk factors of diabetic retinopathy in elderly patients with Type 2 diabetes mellitus: A cohort study

2020 ◽  
Author(s):  
Ying-Chu Chiu ◽  
Tien-Lung Tsai ◽  
Meiyin Su ◽  
Tsan Yang ◽  
Peng-Lin Tseng ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Family History ◽  
Elderly Patients ◽  
Betel Nut ◽  
Family History Of Diabetes ◽  
Related Risk ◽  
History Of

Abstract Background: Diabetic retinopathy (DR) caused by small vessel disease was the main cause of blindness in person with diabetes, and it mainly occurred in patients with Type 2 diabetes mellitus (T2DM). Taiwan was one of the Asian countries with the highest prevalence rate of DR, there were only few studies for the risk of DR in patients with T2DM in Taiwan. According to some studies have shown DR was a major cause of blindness on elderly both in developed and other developing countries. The purpose was to investigate the related risk factors of DR in elderly patients with T2DM. Methods: During July 2010 to December 2017, 4010 T2DM patients without DR were preselected for this study, but 792 patients completed the continuously follow-up evaluation. Patients were invited to have an outpatient visit at least every three months, and they were asked to fill out a brief questionnaire and collect their blood samples. Additionally, statistical methods used independent sample T-test, Chi-square tests and logistic regression in univariate analysis to analyze the relationships between onset DR and each related factor; and finally the optimal multivariate logistic regression model would be determined by stepwise model selection. Results: Of the 792 effective samples, 611 patients (77.1%) progressed to DR and 181 patients (22.9%) did not get DR during the follow-up period. According to the results, the significant factors were women (OR, 2.20; 95%CI, 1.52-3.17), longer diabetic duration (OR, 1.05; 95% CI, 1.03-1.08), family history of diabetes (OR, 1.55; 95% CI: 1.09-2.21), higher concentration glycated hemoglobin (HbA1c) (OR, 1.27; 95% CI: 1.12-1.44), higher mean low density lipoprotein cholesterol (LDL-c) (OR, 1.01; 95% CI: 1.00-1.01), and chewing betel nut (OR, 2.85; 95% CI: 1.41-5.77). Conclusions: This prospective cohort study showed that gender, behavior of chewing betel nut, diabetic duration, family history of diabetes, HbA1c, and LDL-c, were important factors for the development of DR in elderly patients with T2DM. It suggested that those patients should well control their HbA1c and LDL-c and quit chewing betel nut to prevent from DR, especially for female patients with family history of diabetes and longer duration of diabetes.

scholarly journals Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sk. Abdul Mahmud ◽  
Neha Shah ◽  
Moumita Chattaraj ◽  
Swagata Gayen
Keyword(s):  
Family History ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Clinical Findings ◽  
Benign Tumors ◽  
History Of

Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. The histopathologic findings closely mimicked benign fibrous histiocytoma. In our case, definitive diagnosis of neurofibroma was made based on clinical findings, family history, and histopathological and immunohistochemical evaluation. Through this case report we want to emphasize the role of biopsy and immunohistochemistry in arriving at a confirmatory diagnosis. The patient was treated by surgical excision and showed no signs of recurrence over a follow-up period of 12 months.

Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1

2018 ◽  
Vol 79 (03) ◽  
pp. 268-272
Author(s):  
Sevdalin Nachev ◽  
Lyudmila Todorova ◽  
Marin Marinov ◽  
Jivko Surchev
Keyword(s):  
Optic Nerve ◽  
Pediatric Patients ◽  
Neurofibromatosis Type ◽  
Treatment Modalities ◽  
Surgical Removal ◽  
Optic Nerve Glioma ◽  
History Of ◽  
Contralateral Eye

AbstractOptic nerve glioma (ONG) is associated in 10% of patients with neurofibromatosis (NF) type 1. To date no consensus has been reached regarding the therapeutic approach and prevention of visual impairment in these patients. Reports in the literature vary from a conservative approach (observation) to the use of single treatment modalities or multimodality protocols of surgical removal, radiotherapy, and/or chemotherapy. We present our experience with two siblings with ONG whose mother carries cutaneous stigmata of NF type 1. The younger sister was diagnosed 3 years after the treatment of the older sibling following recommended imaging for screening. Postoperative follow-up for 11 and 15 years, respectively, demonstrated lack of tumor regrowth and preserved vision in the contralateral eye. We discuss the treatment strategy in pediatric patients with orbital ONG associated with NF type 1.

Internal Auditory Canal Decompression for Hearing Maintenance in Neurofibromatosis Type 2 Patients

Neurosurgery ◽  
2015 ◽  
Vol 79 (3) ◽  
pp. 370-377 ◽  
Author(s):  
Daniele Bernardeschi ◽  
Matthieu Peyre ◽  
Michael Collin ◽  
Mustapha Smail ◽  
Olivier Sterkers ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Internal Auditory Canal ◽  
Neurofibromatosis Type ◽  
Early Postoperative Period ◽  
Neurofibromatosis Type 2 ◽  
Hearing Level ◽  
Speech Discrimination ◽  
Unilateral Deafness

Abstract BACKGROUND: In neurofibromatosis type 2 (NF2), multiple therapeutic options are available to prevent bilateral hearing loss that significantly affects the quality of life of patients. OBJECTIVE: To evaluate the morbidity and functional results of internal auditory canal (IAC) decompression in NF2 patients with an only hearing ear. METHODS: Twenty-one NF2 patients operated on for IAC decompression in a 3-year period with a minimum follow-up of 1 year were included in this retrospective study. They presented unilateral deafness due to previous contralateral vestibular schwannoma removal in 16 patients or contralateral hearing loss due to the tumor in 5 patients. Hearing level was of class A (American Academy of Otolaryngology-Head and Neck Surgery classification) in 7 patients, B in 8 patients, C in 1 patient, and D in 5 patients. Pure-tone average and speech discrimination score evaluations were performed at 6 days, 1 year, and during the follow-up. Eight patients had postoperative chemotherapy. RESULTS: No case of facial nerve palsy was observed. In the early postoperative period; all patients maintained the hearing class of the preoperative period. At 1-year follow-up, all but 3 patients maintained their hearing scores; at last follow-up (mean follow-up, 23 + 8 months; range, 12-44 months), hearing classes remained stable with only 1 patient worsening from class B to C and 1 patient improving from class D to B. CONCLUSION: Decompression of IAC seems to be a useful procedure for hearing maintenance in NF2 patients, with very low morbidity. Ideal timing and association with chemotherapy should be evaluated in the future.

scholarly journals Adolescent metabolic syndrome and its components associations with incidence of type 2 diabetes in early adulthood: Tehran lipid and glucose study

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Golaleh Asghari ◽  
Mitra Hasheminia ◽  
Abolfazl Heidari ◽  
Parvin Mirmiran ◽  
Kamran Guity ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Metabolic Syndrome ◽  
Family History ◽  
Early Adulthood ◽  
Incident Type ◽  
Low Hdl ◽  
History Of ◽  
Adjusted Model

Abstract Aim To investigate the association of youth metabolic syndrome (MetS) and its components, individually and in combination with early adulthood incident type 2 diabetes (T2DM). Methods A total of 2798 adolescents aged 11–19 years enrolled in the study. At baseline, MetS, its components including blood pressure (BP), waist circumference (WC), triglycerides (TGs), fasting plasma glucose, and low HDL-C, and different combinations of MetS components were defined. After a mean 11.3 years of follow-up, T2DM was determined. Multivariable Cox proportional hazard regression analysis adjusted for age, sex, family history of T2DM, and adult BMI was used for data analysis. The hazard ratio (HR) and 95% confidence interval (CI) were reported. Results During the follow-up, 44 incidents T2DM were developed. Among different individual components, only high WC [HR = 2.63, 95% CI (1.39–4.97)] and high TGs [HR = 1.82, 95% CI (1.00–3.34)] remained as significant predictors only in the age and sex adjusted model. Regarding combinations of MetS components, ‘high TGs and high WC’ [HR = 2.70, 95% CI (1.27–5.77)], ‘high BP and high WC’ [HR = 2.52, 95% CI (1.00–6.33)], ‘high TGs and high BP’ [HR = 2.27, 95% CI (1.02–5.05)] as well as MetS per se [HR = 2.82, 95% CI (1.41–5.64)] had a significant relationship with incident T2DM in the multivariable adjusted model. Among different confounders, being female and having family history of T2DM were consistently associated with higher risk of T2DM, in different combinations of MetS components. Conclusions Adolescence MetS and some combinations of MetS components predicted early adulthood T2DM. Thus, adolescents, particularly female ones, with combinations of MetS components as well as those with family history of T2DM could be targeted for lifestyle intervention.

scholarly journals Long-term follow-up studies of Gamma Knife surgery for patients with neurofibromatosis Type 2

2014 ◽  
Vol 121 (Suppl_2) ◽  
pp. 143-149 ◽  
Author(s):  
Shibin Sun ◽  
Ali Liu
Keyword(s):  
Gamma Knife ◽  
Neurofibromatosis Type ◽  
Hearing Preservation ◽  
Vestibular Schwannomas ◽  
Tumor Control ◽  
History Of ◽  
The Mean

ObjectThe aim of this study was to evaluate long-term clinical outcomes after Gamma Knife surgery (GKS) for patients with neurofibromatosis Type 2 (NF2) and the role of GKS in the management of NF2.MethodsFrom December 1994 through December 2008, a total of 46 patients (21 male, 25 female) with NF2 underwent GKS and follow-up evaluation for at least 5 years at the Gamma Knife Center of the Beijing Neurosurgical Institute. GKS was performed using the Leksell Gamma Knife Models B and C. The mean age of the patients was 30 years (range 13–59 years). A family history of NF2 was found for 9 (20%) patients. The NF2 phenotype was thought to be Wishart for 20 (44%) and Feiling-Gardner for 26 (56%) patients. Among these 46 patients, GKS was performed to treat 195 tumors (73 vestibular schwannomas and 122 other tumors including other schwannomas and meningiomas). For vestibular schwannomas, the mean volume was 5.1 cm3 (median 3.6 cm3, range 0.3–27.3 cm3), the mean margin dose was 12.9 Gy (range 10–14 Gy), and the mean maximum dose was 27.3 Gy (range 16.2–40 Gy). For other tumors, the mean volume was 1.7 cm3 (range 0.3–5.5 cm3), the mean margin dose was 13.3 Gy (range 11–14 Gy), and the mean maximum dose was 26.0 Gy (range 18.0–30.4 Gy). The median duration of follow-up was 109 months (range 8–195 months).ResultsFor the 73 vestibular schwannomas that underwent GKS, the latest follow-up MR images demonstrated regression of 30 (41%) tumors, stable size for 31 (43%) tumors, and enlargement of 12 (16%) tumors. The total rate of tumor control for bilateral vestibular schwannomas in patients with NF2 was 84%. Of the 122 other types of tumors that underwent GKS, 103 (85%) showed no tumor enlargement. The rate of serviceable hearing preservation after GKS was 31.9% (15/47). The actuarial rates for hearing preservation at 3 years, 5 years, 10 years, and 15 years were 98%, 93%, 44%, and 17%, respectively. Of the 46 patients, 22 (48%) became completely bilaterally deaf, 17 (37%) retained unilateral serviceable hearing, and 7 (15%) retained bilateral serviceable hearing. The mean history of the disease course was 12 years (range 5–38 years).ConclusionsGKS was confirmed to provide long-term local tumor control for small- to medium-sized vestibular schwannomas and other types of tumors, although vestibular schwannomas in patients with NF2 responded less well than did unilateral sporadic vestibular schwannomas. Phenotype is the most strongly predictive factor of final outcome after GKS for patients with NF2. The risk for loss of hearing is high, whereas the risk for other cranial nerve complications is low.

Sign in / Sign up

Export Citation Format

Share Document