Cricopharyngeal Achalasia Presenting as Acute Dysphagia in a Pediatric Patient

2021 ◽  
pp. 000348942110504
Author(s):  
Laura Beth O’Neill ◽  
Matthew Magyar ◽  
Brian Reilly ◽  
Tamara Gayle

Objective: To describe a case of idiopathic cricopharyngeal achalasia (CPA) in a pediatric patient with acute onset of dysphagia managed conservatively with supportive care. Methods: Sixteen-month-old boy presented with acute onset of gagging and coughing with feeding. His exam was notable for a well-appearing child with pooling of oral secretions and coarse breath sounds. Plain film series did not show radio-opaque foreign body (FB) and an esophagram demonstrated an endoluminal filling defect of the cervical esophagus and aspiration of contrast. He was taken to the operating room for urgent endoscopy but no FB or food impaction was observed. He had persistent symptoms that required further evaluation and a multidisciplinary team approach. Bedside laryngoscopy did not reveal any abnormalities. Modified barium swallow (MBS) study revealed upper esophageal sphincter (UES) dysfunction, consistent with cricopharyngeal achalasia. Repeat upper endoscopy with biopsies demonstrated mucosal irritation overlying the UES but histologic studies were negative for infectious causes. Results: He was treated with supportive care, including nasogastric feedings for nutrition supplementation as he was unable to tolerate oral feedings without aspiration. Over the course of 3 months after discharge, his symptoms resolved and repeat MBS was normal. Conclusion: CPA is a rare cause of dysphagia in the pediatric population. Conservative management with supportive care is a reasonable approach in cases with acute onset in otherwise healthy children without underlying medical problems.

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii371-iii372
Author(s):  
Valerie Cruz Flores ◽  
Maxine Sutcliffe ◽  
Thomas Geller ◽  
Ignacio Gonzalez Gomez ◽  
Stephanie Smith ◽  
...  

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.


2018 ◽  
Vol 154 ◽  
pp. 01046
Author(s):  
Yusuf A Amrulloh ◽  
Jawahir A K Haq

Breath sound recordings from pediatric subjects pose more processing complications. Children, especially the younger ones, are not able to follow instructions to stay calm during recording. This makes their recordings not only contain stationary artifacts but also non-stationary artifacts such as movement of subjects and their heartbeats. Further, the breath sounds from pediatric subjects also have lower magnitude compared to adults. In this work, we proposed to address those problems by developing a method to remove the artifacts from breath sound recordings. We implemented a combination of a Butterworth band pass filter and a discrete wavelet filter. We tested three types of wavelets (Coiflet, Symlet and Daubechies). Ten level decompositions and a set of hard thresholds were implemented in our work. Our results show that our developed method was capable of removing the artifacts significantly while maintaining the signal of interest. The highest signal to noise ratio improvement (10.65dB) was achieved by 32 orders Symlet.


Author(s):  
Brent D. Bauman ◽  
Maria Evasovich ◽  
Amanda Louiselle ◽  
Eugene Zheng ◽  
Kevin Goodwin ◽  
...  

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.


2017 ◽  
Vol 20 (1) ◽  
pp. 58-62
Author(s):  
Gheorghe Popa ◽  
Cristina Blag ◽  
Horatiu Olteanu

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.


Author(s):  
Cyprian Olchowy ◽  
Anna Olchowy ◽  
Aleksander Pawluś ◽  
Mieszko Więckiewicz ◽  
Luca Maria Sconfienza

In children, the quality and muscle function are altered in many pathologic conditions, including temporomandibular disorders. Although several methods have been used to evaluate muscle tonus, none became a golden standard. Moreover, the masseter muscle characteristics in children have not been investigated to date. This study aimed to measure the stiffness of the masseter muscle using shear-wave elastography in healthy children. We enrolled 30 healthy children (mean age 10.87 ± 3.38 years). The stiffness of masseter muscles was measured with shear wave elastography. Stiffness for the total sample was 6.37 ± 0.77 kPa. A comparison of the measurements did not show significant differences between the right and the left masseter muscles (left—6.47 ± 0.78 kPa; right—6.24 ± 0.76 kPa; p = 0.3546). A significant difference was seen between boys and girls (boys—5.94 ± 0.50 kPa; girls—6.63 ± 0.80; p = 0.0006). Shear-wave elastography is a promising diagnostic tool. It may help to detect changes in the stiffness of the masseter muscle and draw attention to pathological processes within the jaw muscles. Directions for further research shall include determining stiffness values in pathological conditions and the impact of biological and functional factors on the stiffness of the masseter muscle.


Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1074
Author(s):  
Erica Gastelum ◽  
Marcus Cummins ◽  
Amitoj Singh ◽  
Michael Montoya ◽  
Gino Luis Urbano ◽  
...  

Children with Down syndrome (DS) are at high risk for developing obstructive sleep apnea (OSA) compared to children without DS. The negative impact of OSA on health, behavior, and cognitive development in children with DS highlights the importance of timely and effective treatment. Due to the higher prevalence of craniofacial and airway abnormalities, obesity, and hypotonia in patients with DS, residual OSA can still occur after exhausting first-line options. While treatment commonly includes adenotonsillectomy (AT) and continuous positive airway pressure (CPAP) therapy, additional therapy such as medical management and/or adjuvant surgical procedures need to be considered in refractory OSA. Given the significant comorbidities secondary to untreated OSA in children with DS, such as cardiovascular and neurobehavioral consequences, more robust randomized trials in this patient population are needed to produce treatment guidelines separate from those for the general pediatric population of otherwise healthy children with OSA. Further studies are also needed to look at desensitization and optimization of CPAP use in patients with DS and OSA.


2010 ◽  
Vol 89 (11) ◽  
pp. E10-E11 ◽  
Author(s):  
Georgios Giourgos ◽  
Elina Matti ◽  
Paolo Carena ◽  
Fabio Pagella

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.


2020 ◽  
Vol 7 ◽  
Author(s):  
Rana O. Zareef ◽  
Nour K. Younis ◽  
Fadi Bitar ◽  
Ali H. Eid ◽  
Mariam Arabi

Coronavirus disease 2019 (COVID-19) is a global pandemic caused by SARS-CoV-2 virus. As of the 30th of September 2020, around 34,000,000 cases have been reported globally. Pediatrics with underlying congenital heart disease represent a small yet a critical proportion of these patients. In general, the majority of infected children experience mild to moderate disease with significant interindividual variability in laboratory and radiographic findings. Nevertheless, in healthy children with COVID-19, cardiac involvement has been documented and is attributed to various causes. Myocarditis, arrhythmias, cardiogenic shock, and serious multisystem inflammatory syndrome in children are all encountered. Since COVID-19 is a recent novel disease and based on previous experience with respiratory infections, children with underlying congenital heart disease should be given special attention. To date, little data is available about COVID-19 presentation, complications, and appropriate treatment in this population. However, variable and inconsistent disease presentation and severity have been observed. This paper discusses COVID-19 course of illness in pediatric population with a special emphasis on the cardiac manifestations of the disease in healthy population and also on the disease course in congenital heart disease patients in particular.


Neurographics ◽  
2019 ◽  
Vol 9 (5) ◽  
pp. 325-329
Author(s):  
A. Bhatia ◽  
S. Saade-Lemus ◽  
J.M. Ndolo ◽  
W. Chow ◽  
E.S. Schwartz

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.


2008 ◽  
Vol 74 (7) ◽  
pp. 587-593 ◽  
Author(s):  
Constantinos Constantinou ◽  
Iswanto Sucandy ◽  
Max Ramenofsky

Laparoscopic cholecystectomy (LC) is increasingly performed in the pediatric population. Biliary dyskinesia (BD) is largely responsible for this increase and is presently the most common indication for LC in this age group. In our institution the diagnosis of BD is made in patients with biliary symptoms, absence of biliary stones, and an ejection fraction <35 per cent on hydroxy iminoadiacetic acid (HIDA) scan. We reviewed our experience of 100 children with BD that underwent LC. Data that was prospectively collected and entered into electronic medical records by gastroenterologists, primary care physicians, and pediatric surgeons was reviewed and analyzed. Patients were symptomatic for an average of 15 months before undergoing surgery. Seventy-seven per cent reported resolution of symptoms from 6 months to 5 years following LC, whereas the rest complained of persistent symptomatology. When the two groups were compared, patients with persistent symptoms were more likely to be female and to have longer symptom duration. An ejection fraction <35 per cent reliably predicts successful outcome of LC in patients with BD. The diagnosis of BD should be entertained early in the differential of functional abdominal pain in children and referred to Pediatric Surgery when its presence is confirmed.


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