scholarly journals Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Leah E. Waldman ◽  
Alex K. Williamson ◽  
John B. Amodio ◽  
Lee Collins
Keyword(s):  
Malignant Tumor ◽  
Gene Fusion ◽  
Soft Tissues ◽  
Case Reports ◽  
Pediatric Population ◽  
Case Series ◽  
Neck Mass ◽  
Gene Rearrangements ◽  
Prognostic Information

Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion.

Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement

2018 ◽  
Vol 79 (05) ◽  
pp. 408-415 ◽  
Author(s):  
Jan Victor ◽  
Thibault Poujade ◽  
Nadine Hollevoet ◽  
Gregoire Chick
Keyword(s):  
Systematic Review ◽  
Consensus Statement ◽  
Case Reports ◽  
Case Series ◽  
Spinal Tumors ◽  
The Mean ◽  
Tumor Distribution ◽  
Key Aspects ◽  
Number Of Individuals

Aims To identify the frequency of reports of sporadic schwannomatosis, the types of patients affected, and the nerves affected. Patients and Methods We identified all case reports and case series that reported on patients with sporadic schwannomatosis according to established criteria. Results The initial search yielded 1,597 studies, of which 15 were included. A total of 38 of 55 individuals met the inclusion criteria. The mean age of the patients was 48 years; 41% were male. Thirty-three patients had peripheral nerve tumors, and 17 had spinal tumors. Twelve had tumors in both locations. Tumor distribution was unilateral in 25 of 30 cases (83.3%) and segmental (limited to one limb or five or fewer contiguous segments of the spine) in 28 of 38 cases (73.7%). Conclusion This systematic review quantified the number of individuals who meet the criteria for sporadic schwannomatosis and better described this population to facilitate the classification of neurofibromatosis in regard to the 2005 consensus statement. Unilateral or segmental distribution of nerve tumors are key aspects when dealing with multiple noncutaneous schwannomas without involvement of the vestibular nerve.

scholarly journals The Fakir Child: Clinical Observation or Invasive Treatment?

2020 ◽  
Vol 12 (3) ◽  
pp. 103-107
Author(s):  
Antonio Gatto ◽  
Serenella Angelici ◽  
Claudia Di Pangrazio ◽  
Lorenzo Nanni ◽  
Danilo Buonsenso ◽  
...  
Keyword(s):  
Emergency Department ◽  
Foreign Bodies ◽  
Case Reports ◽  
Pediatric Population ◽  
Case Series ◽  
Expectant Management ◽  
X Rays ◽  
Gi Tract ◽  
Invasive Treatment ◽  
Foreign Objects

Accidental swallowing of foreign bodies is a common problem among the pediatric population (6 months to 3 years), especially if the foreign body (FB) presents a sharp end that could potentially lead to perforation of the gastrointestinal (GI) tract, resulting in infection and complications. We report the case of a 2-year-old, admitted to the Emergency Department of our hospital after ingesting two FBs classifiable as sharp objects, specifically two metal nails, both approximately 4-cm long, which had been swallowed in one go, as reported by the parents. The patient had been previously admitted to another hospital in the same region, where the Emergency Department (ED) doctors took an X-ray to confirm the ingestion. The foreign bodies ingestion was thus confirmed, and they were, according to their report, located in the GI tract over the stomach. The patient has been monitored through all of his stay in the hospital and the progression of the foreign bodies has been documented with serial X-rays. Since neither clinical nor radiological signs of perforation were present, putting the FBs in the small bowel, a non-operative expectant management was followed. After 4 days of admission, the patient had passed one of the two FBS and later on the second one, without any complication. Thereafter the patient was discharged. The management of sharp gastrointestinal foreign objects ingestion is still debated, and the data of the current literature are poor. A number of case reports and small case series describe successful conservative management for the majority of ingested sharp objects. According to the literature data, our report confirms that the ingestion of sharp objects and relatively big objects in a baby can be successfully non-operatively managed, even despite the age of the patient and though the FBs are multiple.

scholarly journals Pathogenesis and Classification of Paracocidioidomycosis: New Insights From Old Good Stuff

2020 ◽  
Author(s):  
Gil Benard ◽  
Gilda Del Negro
Keyword(s):  
Natural History ◽  
Case Reports ◽  
Case Series ◽  
Current View ◽  
Clinical Classification ◽  
Chronic Form

Abstract Different classifications of paracoccidioidomycosis emerged since its discovery in 1908, culminating in the proposition of a simplified and consensual one in 1987. However, by revisiting these classifications, case-reports or case-series from which the authors based their own, we found many patients who never truly fitted, neither in the 1987’s classification nor in the correspondent natural history/pathogenesis view. Herein, the concepts of paracoccidioidomycosis-infection, primary pulmonary paracoccidioidomycosis (PP-PCM) and other subclinical forms of PCM are reassessed. A classification is proposed to encompass all these subtle but distinct outcomes. We suggest a continuum between the PP-PCM and the overt chronic form of disease, and not the current view of quiescent foci, frozen in time and suddenly reactivated for unknown reasons. Failure to fully resolve the infection since its initial stages is a conceivable hypothesis for the chronic form. The proposed clinical classification might offer new insights to better characterize and manage PCM patients.

scholarly journals “When should primary angiitis of the central nervous system (PACNS) be suspected?”: literature review and proposal of a preliminary screening algorithm

2020 ◽  
Vol 41 (11) ◽  
pp. 3135-3148 ◽  
Author(s):  
Cristina Sarti ◽  
Antonella Picchioni ◽  
Roberta Telese ◽  
Marco Pasi ◽  
Ylenia Failli ◽  
...  
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Neurological Deficits ◽  
Preliminary Screening ◽  
Screening Algorithm ◽  
Level Data ◽  
Primary Angiitis ◽  
The Central Nervous System ◽  
Selection Of

Abstract Background Primary angiitis of the CNS (PACNS) is a process causing variously combined neurological disturbances. Its rarity and kaleidoscopic presentation make it difficult to diagnose and even to suspect. Objective (1) To provide an up-to-date review on PACNS and (2) to create a preliminary screening algorithm based on clinical and radiological first-level data, useful to suspect PACNS and guide further investigations. Methods Review of PUBMED case series on PACNS, published from 2002 to 2017, collection of frequencies of clinical and neuroimaging features and calculation of median values. Classification of features as “major” or “minor” if frequency was higher or lower than median value. Combination of features in sets of criteria represented by all possible combinations of major and minor clinical and neuroradiological features. Application of criteria to published PACNS case reports and selection of the ones best identifying patients with definite PACNS. Results We reviewed 24 case series. “Major” clinical features were headache, stroke, cognitive impairment, focal neurological deficits; “minor” were seizures, altered consciousness, psychiatric disorders. “Major” neuroradiological features were multiple parenchymal lesions, parenchymal/meningeal contrast enhancement, magnetic resonance angiography vessel abnormalities, vessel wall enhancement; “minor” were parenchymal/subarachnoid hemorrhage, single parenchymal lesion. The selected sets of criteria able to identify all PACNS patients were (1) one clinical (major/minor) + one major neuroradiological feature; and (2) Two clinical (≥ 1 major) + one minor neuroradiological feature. Conclusion Our review provides a detailed clinical/neuroradiological picture of PACNS. The proposed algorithm should be regarded as a preliminary screening tool to move the first steps towards PACNS diagnosis that needs validation.

scholarly journals Arthroscopic Management of Pigmented Villonodular Synovitis of the Hip in Children and Adolescents

2018 ◽  
Vol 6 (3) ◽  
pp. 232596711876311 ◽  
Author(s):  
S. Clifton Willimon ◽  
Tim Schrader ◽  
Crystal A. Perkins
Keyword(s):  
Pediatric Patients ◽  
Case Reports ◽  
Pediatric Population ◽  
Case Series ◽  
Pigmented Villonodular Synovitis ◽  
Villonodular Synovitis ◽  
Arthroscopic Synovectomy ◽  
Duration Of Symptoms ◽  
Pigmented Villonodular

Background: Pigmented villonodular synovitis (PVNS) is a benign proliferative synovial disorder most commonly described to affect the knee in adults. Literature describing PVNS in the pediatric population is limited to 2 small case series and a handful of single-patient case reports. Within these studies, only 2 patients with PVNS of the hip are described. Purpose: To describe the presentation, management, and outcomes of a single-center series of pediatric patients with PVNS of the hip treated with arthroscopic synovectomy. Study Design: Case series; Level of evidence, 4. Methods: A retrospective review of consecutive pediatric patients treated for PVNS at a single institution was performed. Inclusion criteria consisted of patients younger than 19 years with surgically treated PVNS of the hip. Results: Five pediatric patients with a mean age of 11.0 years were treated for PVNS of the hip from 2011 to 2016. The mean duration of symptoms from onset to surgical treatment was 247 days (range, 3-933 days). Upon review of magnetic resonance imaging (MRI) results, radiologists included PVNS in their differential in 3 patients. Seven surgeries were performed in 5 patients. All therapeutic procedures were arthroscopic synovectomies. Nodular PVNS was present in 4 patients, and diffuse disease was present in 1 patient. At a mean 32-month follow-up (range, 12-63 months), all patients were considered to be free of recurrence based on clinical examination and/or follow-up MRI. Four patients were asymptomatic and returned to all of their previous sports activities. Conclusion: Young age at the time of diagnosis is a point to be highlighted in this cohort, and symptoms may be present for many months prior to diagnosis due to the failure to consider PVNS in children. Therefore, for patients with “atypical” presentations or lack of improvement with treatment for rheumatologic, bleeding, or infectious disorders, PVNS should be strongly considered. MRI with gradient echo sequences is the diagnostic imaging study of choice. One patient with diffuse involvement and preoperative degenerative changes showed progressive changes postoperatively. This type of PVNS may have a worse prognosis, but more diffuse cases are needed before the prognosis can be determined. Arthroscopic synovectomy following a timely diagnosis of PVNS produces good outcomes in nodular cases, with no evidence of symptomatic or radiographic disease persistence among these patients.

Primary Alveolar Soft-Part Sarcoma of the Liver: Anomalous Presentation of a Rare Disease

2008 ◽  
Vol 74 (1) ◽  
pp. 43-46 ◽  
Author(s):  
Kyle K. Shaddix ◽  
G. Peter Fakhre ◽  
William W. Nields ◽  
Jeffery L. Steers ◽  
Winston R. Hewitt ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissues ◽  
Soft Part ◽  
Case Reports ◽  
Pediatric Population ◽  
Female Genital Tract ◽  
Soft Tissue Sarcomas ◽  
Alveolar Soft Part Sarcoma ◽  
Anatomic Locations ◽  
Female Genital

Alveolar soft-part sarcoma is a highly vascular soft-tissue tumor that is uniformly malignant. It comprises less than 1 per cent of all soft-tissue sarcomas. Patients with alveolar soft-part sarcoma most frequently are aged 15 to 35 years, and the soft tissues of the lower extremities typically are affected. In the pediatric population, it most frequently occurs in the head and neck and particularly affects the tongue and orbit. Alveolar soft-part sarcoma has been described as a primary lesion in the trunk, upper extremities, and retroperitoneum; more novel locations include the mediastinum, female genital tract, stomach, bone, and larynx. Numerous case reports describe alveolar soft-part sarcoma in diverse anatomic locations, but this report is, to our knowledge, the first documentation of primary alveolar soft-part sarcoma of the liver. We describe a 47-year-old woman with such a manifestation. Despite surgical resection and numerous chemotherapeutic regimens, this patient had widespread metastasis and died approximately 2 years after the diagnosis was established.

scholarly journals Esophageal melanoma: a systematic review and exploratory recurrence and survival analysis

2019 ◽  
Author(s):  
D Schizas ◽  
K S Mylonas ◽  
G Bagias ◽  
A Mastoraki ◽  
M Ioannidi ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Cox Regression ◽  
Case Reports ◽  
Case Series ◽  
Common Symptom ◽  
Prognostic Information ◽  
Management Options ◽  
Patient Age ◽  
Patient Âgé ◽  
Rare Malignancy

SUMMARY Esophageal melanoma is a rare and poorly described malignancy. We sought to review all available data on the clinicopathological features, management options, and outcomes of patients with esophageal melanoma to guide clinicians working to treat these uncommon tumors. A systematic literature search of the PubMed, Embase, and Cochrane databases was performed. Exploratory recurrence and survival analyses were performed using previously-validated pooled Cox and logistic regression techniques for case reports and case series. Quality assessment of included studies was performed using the tools developed by the Joanna Briggs and the National Heart, Lung, and Blood Institutes. Fifty-nine studies were reviewed. A total of 93 patients with esophageal melanoma were identified. The mean patient age was 61.2 ± 10.6 years. Esophageal melanoma usually developed at the lower esophagus (48.4%). 90.3% of the patients were symptomatic at presentation, with dysphagia being the most common symptom (72%). Esophagectomy was performed in 91.4% of the patients. Postoperatively, 14 patients (15.1%) received adjuvant chemotherapy. Tumor recurrence was seen in 37 patients (39.8%). The median time to recurrence was 6 months. Disease-specific mortality was 43%. All-cause mortality was 46.1%. On multivariable Cox regression, older patient age (hazard ratio [HR] = 0.91, P = 0.008) and higher Melan-A expression (HR = 0.21; P = 0.029) were associated with a significantly lower risk of mortality. Higher S100 levels (HR = 37.4; P = 0.001) were predictive of poor survival. On logistic regression, large, ulcerated, lower esophageal tumors were significantly more likely to recur (P = 0.018, P = 0.013, and P = 0.027 respectively). Esophageal melanoma is a rare malignancy that tends to present with dysphagia. Most surgically-treated patients undergo esophagectomy. Large, ulcerated, lower esophageal lesions recur more frequently. Immunohistochemistry provides prognostic information regarding survival.

scholarly journals A rare case of sinonasal actinomycosis – enigmatic presentation

2018 ◽  
Vol 4 (3) ◽  
pp. 863
Author(s):  
Vikas Gupta ◽  
Gunjan Dwivedi ◽  
P. Sengupta ◽  
Shailendra Tripathi ◽  
Sunil Goyal ◽  
...  
Keyword(s):  
Rare Case ◽  
Soft Tissues ◽  
Case Reports ◽  
Case Series ◽  
Fungal Sinusitis ◽  
Diagnostic Dilemma ◽  
Long Course ◽  
One Year ◽  
Anaerobic Environment

Actinomycosis is most commonly seen in cervico-facial, abdominal, genital and thoracic regions as discharging sinuses. Most common organism implicated is <em>Actinomyces israelli, </em>gram positive anaerobic commensal bacteria of aero-digestive tract. Actinomycosis of paranasal sinuses is an extremely rare entity with isolated case reports and small case series published in literature. Among all sinuses maxillary sinus is most commonly afflicted by this disease. Pathogenesis involves inoculation of the bacteria into the tissues through breach in mucosa by trauma or surgical procedure. It requires anaerobic environment to grow into soft tissues and invade bone. It warrants treatment in form of surgical debridement and long term antibiotic therapy. Here, we present one such rare case of sinonasal actinomycosis in a 60 year old diabetic male who earlier had been treated as a case of sinonasal mucormycosis about one year back. This case was managed successfully with debridement encompassing infrastructure maxillectomy followed by a long course of Penicillin group of antibiotic. Preoperatively there was a diagnostic dilemma whether we were dealing with chronic invasive fungal sinusitis or actinomycosis. Actinomycosis was confirmed postoperatively on histopathology and microbiology. <p> </p>

scholarly journals Teriparatide Therapy in a 4-Month-Old With Severe Hypoparathyroidism

2021 ◽  
Vol 27 (1) ◽  
pp. 80-84
Author(s):  
Neelam D. Bhatt ◽  
Julie L. Heh ◽  
Michelle P. Hudspeth ◽  
Kelli W. Williams ◽  
Katherine E. Twombley
Keyword(s):  
Vitamin D ◽  
Calcium Carbonate ◽  
Case Reports ◽  
Pediatric Population ◽  
Case Series ◽  
Hormone Analog ◽  
Serum Ionized Calcium ◽  
Present Case Study

Teriparatide is a human parathyroid hormone analog approved for the treatment of osteoporosis in adult patients. Its use for hypocalcemia and hypoparathyroidism in the pediatric population is described through case reports and small case series; however, larger studies that demonstrate long-term efficacy and safety are limited. At our institution, a 4-month-old premature (gestational age: 32 weeks) infant with multiple congenital anomalies, functional athymia, and severe hypoparathyroidism and receiving calcitriol, vitamin D, and calcium carbonate supplementation was initiated on subcutaneous injection of teriparatide. During the course of treatment, her calcium carbonate, vitamin D, and calcitriol supplementation requirements substantially decreased. Teriparatide effectively increased serum ionized calcium concentrations and decreased serum phosphorus concentrations in the present case-study over a 6-month period. Teriparatide was well tolerated, and no evidence of hypercalcemia was observed throughout treatment.

scholarly journals Pure Orbital Trapdoor Fractures in Adults: Tight Entrapment of Perimuscular Tissue Mimicking True Muscle Incarceration with Successful Results from Early Intervention

2019 ◽  
Vol 12 (1) ◽  
pp. 54-61 ◽  
Author(s):  
Ioannis Papadiochos ◽  
Vasilis Petsinis ◽  
Jason Tasoulas ◽  
Lampros Goutzanis
Keyword(s):  
Soft Tissues ◽  
Case Reports ◽  
Full Range ◽  
Case Series ◽  
Rectus Muscle ◽  
Ocular Motility ◽  
Inferior Rectus ◽  
Retrospective Case ◽  
Orbital Trauma ◽  
Specific Subset

Orbital trapdoor fractures (OTFs) entail entrapment of intraorbital soft tissues with minimal or no displacement of the affected bones and are almost exclusively seen in children. This article aimed to report the diagnosis and treatment of an OTF of the floor in an adult patient and to critically review the literature regarding the management aspects of this specific subset of orbital blowout fractures in adults. A 29-year-old man presented with limitations of vertical right eye movements owing to blunt orbital trauma. The patient mainly complained of double vision in upper gazes and some episodes of nausea. Neither floor defect nor significant bone displacement found on orbital computed tomography, while edema of inferior rectus muscle was apparent. The patient underwent surgical repair 5 days later; a linear minimally displaced fracture of the floor was recognized and complete release of the entrapped perimuscular tissues was followed. Within the first week postoperatively, full range of ocular motility was restored, without residual diplopia. This case was the only identified pure OTF over a 6-year period in our department (0.6% of 159 orbital fractures in patients >18 years). By reviewing the literature indexed in PubMed, a very limited number of either of isolated case reports or retrospective case series of pure OTFs has been reported in adults. Contrary to the typical white-eyed blowout fractures, the literature indicates that OTFs in adults seem to not always constitute absolute emergency conditions. Although such fractures need to be emergently/ immediately treated in children, in the absence of true muscle incarceration, adults may undergo successful treatment within a wider but either early or urgent frame of time. Adults frequently exhibit vagal manifestations and marked signs of local soft tissues injury.

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