scholarly journals A Unique Case of Multiple Sites of Pneumatization of the Sinonasal Bony Framework in a Pediatric Patient

2010 ◽  
Vol 89 (11) ◽  
pp. E10-E11 ◽  
Author(s):  
Georgios Giourgos ◽  
Elina Matti ◽  
Paolo Carena ◽  
Fabio Pagella
Keyword(s):  
Pediatric Patient ◽  
Pediatric Population ◽  
Inferior Turbinate ◽  
Anatomic Variations ◽  
Concha Bullosa ◽  
Unique Case ◽  
Pediatric Case

Anatomic variations of the sinonasal bony framework in the pediatric population are quite common. In children with such variations, however, bony pneumatization is uncommon. Moreover, pneumatization of the inferior turbinate in children is extremely rare; to the best of our knowledge, only 3 cases have been previously reported in the literature–none of which involved additional pneumatization variations of the sinonasal skeleton. Herein we present a new pediatric case that was unique in that an inferior concha bullosa coexisted with rarely seen pneumatized anatomic structures.

scholarly journals LGG-28. NOVEL BRAF INTRAGENIC DELETION IN A GLIOMA: A CASE REPORT OF A PEDIATRIC PATIENT

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii371-iii372
Author(s):  
Valerie Cruz Flores ◽  
Maxine Sutcliffe ◽  
Thomas Geller ◽  
Ignacio Gonzalez Gomez ◽  
Stephanie Smith ◽  
...  
Keyword(s):  
Pediatric Patient ◽  
Pilocytic Astrocytoma ◽  
Pediatric Population ◽  
Binding Pocket ◽  
Genetic Alterations ◽  
Low Grade ◽  
Braf Gene ◽  
Intragenic Deletion ◽  
Whole Genome Microarray ◽  
Intragenic Deletions

Abstract BACKGROUND Numerous variant BRAF genetic alterations have been associated with malignancies. BRAF activating fusions/mutations are frequently present in low grade gliomas. BRAF intragenic deletions have been reported in melanoma, but have not previously been reported in gliomas. OBJECTIVE To report a BRAF intragenic deletion in a pediatric patient with recurrent low-grade glioma. RESULTS A 3-year-old female underwent a complete resection of a posterior fossa pilocytic astrocytoma. She had recurrences at age 4, and then at age 9; pathology was consistent with pilocytic astrocytoma. Microarray analysis on sample from the first recurrence showed one region of loss encompassing 86 Kbp within the BRAF gene. The deletion breakpoints are within intron 1 and 9, resulting in loss of exons 2 through 9, inclusive. This has been previously described melanoma, but appears to be a novel finding in glioma. It is hypothesized that, since the loss retains the kinase and ATP binding pocket domains but deletes the N-terminal conserved region 1 and 2 (CR1, CR2) of the BRAF gene, it is likely functionally similar to the loss and activation resulting from the more usually described KIAA1549 and BRAF gene fusion. CONCLUSION This is the first BRAF intragenic deletion involving exons 2–9 reported in a glioma. Although 86kbp is small using whole genome microarray technology, it is large using sequencing strategies, and a targeted sequencing approach to investigate the BRAF gene would not readily identify this deletion. It is speculated that the deletion may be under ascertained in the pediatric population.

scholarly journals Sinonasal Hemangiopericytoma of Inferior Turbinate presenting as Chronic Dacryocystitis: A Rare Presentation

2014 ◽  
Vol 7 (1) ◽  
pp. 34-35
Author(s):  
Gaurav Gupta ◽  
Vikas Devra ◽  
Tushar Jain
Keyword(s):  
Nasal Obstruction ◽  
Inferior Turbinate ◽  
Unusual Presentation ◽  
Unique Case ◽  
Rare Presentation ◽  
Chronic Dacryocystitis ◽  
Headache Pain

ABSTRACT Sinonasal hemangiopericytoma are unusual tumors that develop from pericytes. We present a unique case of sinonasal hemangiopericytoma of inferior turbinate which presented with chronic dacryocystitis. Patient usually present with nasal obstruction, epistaxis, mass, headache, pain, discharge. But, chronic dacryocystitis is very unusual presentation. How to cite this article Devra V, Gupta G, Jain T. Sinonasal Hemangiopericytoma of Inferior Turbinate presenting as Chronic Dacryocystitis: A Rare Presentation. Clin Rhinol An Int J 2014;7(1):34-35.

An occult ectopic parathyroid adenoma in a pediatric patient: a case report and management algorithm

2017 ◽  
Vol 30 (9) ◽  
Author(s):  
Brent D. Bauman ◽  
Maria Evasovich ◽  
Amanda Louiselle ◽  
Eugene Zheng ◽  
Kevin Goodwin ◽  
...  
Keyword(s):  
Case Report ◽  
Parathyroid Adenoma ◽  
Pediatric Patient ◽  
Pediatric Population ◽  
Preoperative Imaging ◽  
Management Algorithm ◽  
Postoperative Mri ◽  
Complex Patients ◽  
Multiple Imaging ◽  
Parathyroid Adenomas

AbstractBackground:Hyperparathyroidism (HPT) is a rare disease in the pediatric population, and optimal management may be unclear if it is due to an occult parathyroid adenoma. We present a case report of a pediatric patient with an occult, ectopic, supernumerary, parathyroid adenoma.Case presentation:A 13-year-old female who initially presented with anxiety was diagnosed with HPT. Preoperative imaging and bilateral neck exploration with four-gland biopsy were negative for any parathyroid adenoma. Postoperative MRI identified a thymic mass. She subsequently underwent video-assisted thoracoscopic thymectomy with resection of an intrathymic parathyroid adenoma.Conclusions:The diagnosis of pediatric HPT is increasing. Supernumerary or occult parathyroid adenomas are rare and add complexity to presurgical planning and management. Our case represents the rare occurrence of a pediatric ectopic supernumerary occult parathyroid adenoma treated with a two-stage approach utilizing multiple imaging studies. We provide a review of the pathology and propose an algorithmic approach to manage these complex patients.

Chronic Myelogenous Leukemia Presenting as a Secondary Malignancy After BCR-ABL1-negative B-lymphoblastic Leukemia/Lymphoma in a Pediatric Patient

2017 ◽  
Vol 20 (1) ◽  
pp. 58-62
Author(s):  
Gheorghe Popa ◽  
Cristina Blag ◽  
Horatiu Olteanu
Keyword(s):  
Complete Remission ◽  
Pediatric Patient ◽  
Chronic Myelogenous Leukemia ◽  
Pediatric Population ◽  
Lymphoblastic Leukemia ◽  
Myeloproliferative Neoplasm ◽  
Myelogenous Leukemia ◽  
Secondary Malignancy ◽  
Pediatric Malignancy ◽  
Pathologic Features

Chronic myelogenous leukemia, BCR-ABL1 positive (CML) is a rare myeloproliferative neoplasm in children and presents even less often as a secondary malignancy in the pediatric population. Below, we report a patient with Philadelphia-negative B-lymphoblastic leukemia/lymphoma, who developed CML several years after achieving complete remission, and summarize the existing literature on the clinical and pathologic features of CML as a secondary pediatric malignancy.

A Unique Case of Renal Carcinoma with Xp11.2 Translocations/TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation

2004 ◽  
Vol 7 (4) ◽  
pp. 403-406 ◽  
Author(s):  
Mana M. Parast ◽  
Grant Eudy ◽  
Kenneth W. Gow ◽  
Mahul Amin ◽  
Bahig Shehata
Keyword(s):  
Gene Mutation ◽  
Renal Carcinoma ◽  
Pediatric Population ◽  
Single Point ◽  
Single Point Mutation ◽  
Transcription Factor Gene ◽  
Unique Case ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau (VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient's VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.

MR Imaging of Meningioangiomatosis in a Pediatric Population

Neurographics ◽  
2019 ◽  
Vol 9 (5) ◽  
pp. 325-329
Author(s):  
A. Bhatia ◽  
S. Saade-Lemus ◽  
J.M. Ndolo ◽  
W. Chow ◽  
E.S. Schwartz
Keyword(s):  
Mr Imaging ◽  
Pediatric Patient ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Brain Lesion ◽  
Solitary Lesion ◽  
Leptomeningeal Enhancement ◽  
Histopathologic Diagnosis

Meningioangiomatosis (MA) is a rare intracranial hamartomatous lesion. We retrospectively reviewed the MRIs in 6 pediatric patients with a histopathologic diagnosis of MA. Patients with MA demonstrated a solitary lesion in the frontotemporal regions, with FLAIR hyperintensity and leptomeningeal enhancement. A solitary brain lesion in the frontotemporal lobes associated with leptomeningeal enhancement and T2/FLAIR hyperintensity should include the possibility of MA in a pediatric patient who presents with seizures or headaches.

scholarly journals Use of Ceftolozane/Tazobactam for the Treatment of Multidrug-Resistant Pseudomonas aeruginosa Pneumonia in a Pediatric Patient with Combined Immunodeficiency (CID): A Case Report from a Tertiary Hospital in Saudi Arabia

Antibiotics ◽  
2019 ◽  
Vol 8 (2) ◽  
pp. 67 ◽  
Author(s):  
Ahmed Zikri ◽  
Kamal El Masri
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Pediatric Patient ◽  
Pediatric Population ◽  
Treatment Options ◽  
Multidrug Resistant ◽  
Beta Lactamase ◽  
Combined Immunodeficiency ◽  
Beta Lactam ◽  
Pharmacokinetic Profiles ◽  
Lactamase Inhibitor

Infections, with multidrug-resistant Pseudomonas aeruginosa, are a major concern in the pediatric intensive care unit, especially in immunocompromised patients. Some of these strains are resistant to all beta-lactams, including carbapenems, leaving very limited treatment options remaining. These options include aminoglycosides and colistin, both of which have poor pharmacokinetic profiles with significant toxicities. Newer beta-lactam/beta-lactamase inhibitor combinations offer additional novel options to treat such infections, given their good pharmacokinetic profiles and activity against multi-drug resistant strains. Ceftolozane/tazobactam is a novel cephalosporin/beta-lactamase inhibitor combination approved in 2014. The drug demonstrates good activity against multidrug-resistant P. aeruginosa strains, including those resistant to all other antibiotics. Ceftolozane/tazobactam is currently approved in adult patients 18 years and older only. There are very limited data on its pharmacokinetic profile and clinical utility in the pediatric population. We report the use of ceftolozane/tazobactam to successfully treat pneumonia caused by multidrug-resistant P. aeruginosa in a pediatric patient with combined immunodeficiency syndrome.

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