Metabolic mayhem. The advantage of keeping your nose both in the books and in the nappy!

Author(s):  
Buthaina Buzakuk ◽  
Judith van der Voort

This case presentation takes you on a journey of diagnostic hurdles, covering a common neonatal presentation: abdominal distention with failure to pass meconium, followed by a presentation in infancy with metabolic, renal and electrolyte abnormalities. The article provides a systematic approach to the different clinical problems, allowing interpretation of results, making differential diagnoses and deciding on investigations and management.

2021 ◽  
Vol 8 (4) ◽  
pp. 494-501
Author(s):  
Gerardo Cazzato ◽  
Lucia Lospalluti ◽  
Anna Colagrande ◽  
Antonietta Cimmino ◽  
Paolo Romita ◽  
...  

Dedifferentiated melanoma is a particular form of malignant melanoma with a progressive worsening of the patient’s clinical outcome. It is well known that melanoma can assume different histo-morphological patterns, to which specific genetic signatures correspond, sometimes but not always. In this review we address the diagnostic difficulties in correctly recognizing this entity, discuss the major differential diagnoses of interest to the dermatopathologist, and conduct a review of the literature with particular attention and emphasis on the latest molecular discoveries regarding the dedifferentiation/undifferentiation mechanism and more advanced therapeutic approaches.


2020 ◽  
Vol 4 (2) ◽  
pp. 234-240
Author(s):  
Artur Schander ◽  
Andrew Glickman ◽  
Nancy Weber ◽  
Brian Rodgers ◽  
Michael Carney

Introduction: Emergency physicians are trained to treat a variety of ailments in the emergency department (ED), some of which are emergent, while others are not. A common complaint seen in the ED is a sore throat. While most sore throats are easily diagnosed and treated, less common causes are often not considered in the differential diagnoses. Therefore, the purpose of this case study was to present an atypical case of sore throat and discuss differential diagnoses. Case Presentation: The patient was a 45-year-old female who presented to the ED with a three-day history of sore throat that was exacerbated by eating and drinking. The patient was not on any prescription medications, but tried over-the-counter medications for the sore throat without any improvement in symptoms. Review of systems was positive for sore throat, fevers, and chills. Physical examination of her oropharynx revealed mildly dry mucous membranes with confluent plaques and white patchy ulcerative appearance involving the tongue, tonsils, hard palate, and soft palate. Rapid streptococcal antigen, mononucleosis spot test, and KOH test were performed and found to be negative. Discussion: After initial testing was negative, a follow-up complete blood count with differential and complete metabolic profile were ordered. The patient was found to have decreased lymphocytes and platelets. Based upon those results, a diagnosis was made in the ED, the patient was started on medication, and further laboratory workup was ordered to confirm the diagnosis. ED providers should consider non-infectious as well as infectious causes for a sore throat, as this might lead to a diagnosis of an underlying condition.


2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Riccardo Maglio ◽  
Scicchitano Francesco ◽  
Magistri Paolo ◽  
Valabrega Stefano ◽  
D'Angelo Francesco ◽  
...  

Introduction. Rhabdomyomas of the head and neck are exceptionally rare benign mesenchymal tumors. Rare cases have been reported to involve other sites of the body including the head and neck regions.Case Presentation. We report a case of voluminous extracardiac adult rhabdomyoma affecting adult patients and initially seen as slowly growing, indolent neoplasms. The patient is a seventy-year old male Italian patient.Conclusion. Adult extracardiac rhabdomyoma is a rare benign tumor that may present with symptoms that vary from aerodigestive tract obstruction to remaining asymptomatic for many years. Although histology is very characteristic, several differential diagnoses have to be considered. To our knowledge, this is the first case of voluminous adult-type symptomless rhabdomyoma.


2021 ◽  
pp. 039156032110104
Author(s):  
Furkan Umut Kilic ◽  
Uygar Micoogullari ◽  
Serkan Altinova

Introduction: Leiomyomas of the genitourinary tract are rare and their manifestation in the ureter is even rarer. To our knowledge, only 14 cases of leiomyoma of the ureter have been reported worldwide since 1955, therefore this case will be 15th. Case presentation: We present a rare case of primary leiomyoma of the right ureter. Ureteroscopy did not show any abnormal findings in the ureteral mucosa. The primary leiomyoma was resected with distal ureterectomy and partial cystectomy that was followed with ureteroneocystostomy due to extraluminal mass that caused hydronephrosis and back pain. Conclusion: Although rare, we believe that leiomyoma should be considered in the differential diagnoses of well-circumscribed ureteral masses and kidney-sparing surgery should be performed.


2021 ◽  
Vol 10 ◽  
pp. 14
Author(s):  
V Raveenthiran

Background: Congenital masses of the nasal tip are extremely rare. Differential diagnoses include nasal-tip teratoma, nasal chondromesenchymal hamartoma (NCMH), and heterotopic nasal glioma. Herein, the case of a newborn is reported that does not match with any of these differential diagnoses.  Case presentation: A newborn male presented with a congenital pedunculated mass arising from the nasal columella. The mass was symmetrically bilobed which is very unusual for any hamartomatous or neoplastic lesions. Histologically, it was composed of cartilage and ciliated epithelium. Conclusion: Based on the uniqueness of the case it is hypothesized that the lesion could be an embryological error of frontonasal process overshoot defying, hitherto unknown, controlling mechanism. More research is needed to know how the morphometric proportion of the human body is determined by Nature.


1991 ◽  
Vol 81 (4) ◽  
pp. 174-180 ◽  
Author(s):  
RA Christman

A methodic analysis of foot radiographs is valuable when evaluating for joint disease. The author presents a system that allows the interpreter to establish a list of expected differential diagnoses. This is especially useful when the arthritide does not present with its classic radiographic appearance.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Alessandro Rossi ◽  
Fabiola Di Dato ◽  
Raffaele Iorio ◽  
Gianfranco Vallone ◽  
Carmine Mollica ◽  
...  

Abstract Background Pseudo-ascites is a very rare condition in children and remains a challenging diagnosis. Targeted imaging may be helpful, but a high index of clinical suspicion is often necessary to guide the investigations, as pseudo-ascites may efficiently mimic true ascites. To date, still many cases of pseudo-ascites suffer diagnostic and therapeutic delay, and some are only diagnosed during surgical exploration. We report the case of a patient with a late laparoscopic diagnosis of pseudo-ascites. We retrospectively review our patient’s imaging findings and suggest new characteristic features which may help differentiate pseudo-ascites from true ascites. Case presentation A 7-month-old infant was referred for a progressive abdominal distention. Physical examination and initial ultra-sonographic findings evoked free ascites. An extensive diagnostic workup was then performed and was negative for hepatic, renal, cardiac, intestinal, pancreatic, inflammatory or infectious diseases, malignancy and congenital metabolic disorders. Pseudo-ascites was evoked and dedicated ultra-sonographic and magnetic resonance studies were repeated but could not confirm this diagnosis. Symptomatic diuretic treatment with spironolactone and furosemide was then started. A temporary and limited effect was noted but, with time, repeated paracenteses were necessary as the abdominal distention progressed causing discomfort and breathing difficulty. Last, because the patient’s quality of life deteriorated, a peritoneal-venous shunting was proposed; as the operation started with a diagnostic laparoscopy, a benign giant cystic mesenteric lymphangioma was identified and totally excised. The resolution of symptoms was immediate and the patient remained symptom-free throughout the subsequent observation period that lasted more than 1 year. Conclusions Increased awareness about pseudo-ascites is necessary, as the diagnosis is often overlooked, and treatment delayed. Targeted imaging may be helpful, as some specific, although not pathognomonic, features exist which may aid in the diagnosis.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiyu Pan ◽  
Ran Chu ◽  
Jinyu Meng ◽  
Qiannan Wang ◽  
Yue Zhang ◽  
...  

Abstract Background Hyperemesis gravidarum (HG) is a common complication during pregnancy, however, HG associated simultaneous onset of blood cell destruction due to electrolyte abnormalities is rare. In this case, a woman with refeeding syndrome (RFS) secondary to electrolyte abnormalities caused by severe HG was diagnosed and managed in our hospital. Case presentation A 29-year old woman was sent to the local hospitals because of severe HG with appetite loss, weight reduction, general fatigue, and she was identified to have severe electrolyte abnormalities. However, the electrolyte abnormalities were not corrected promptly, and then she had the symptoms of stillbirth, altered mental status, visual hallucination, hemolytic anemia and thrombocytopenia. After transferred to our hospital, we continued to correct the electrolyte abnormalities and the labor induction was performed as soon as possible. The symptoms of blood cell destruction were relieved obviously, and the patient discharged four days later. The electrolyte disturbances and physio-metabolic abnormalities caused by HG helped us diagnose this case as RFS. Conclusions This case emphasizes that patients with RFS should be diagnosed appropriately and intervened promptly in order to prevent electrolyte imbalance induced blood cell destruction.


2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Katongo Mutengo ◽  
Francis Mupeta ◽  
Owen Ngalamika

Pernicious anemia (PA) is a rarely considered cause of anemia in HIV-infected population and is seldom on the list of differential diagnoses. However, PA can have serious consequences if misdiagnosed or left untreated. We present the case of a 38-year-old HIV-positive man who was diagnosed with PA, which was preceded by a one-year history of vitiligo. Our case is a reminder for clinicians to have a high index of suspicion for an autoimmune process as a potential cause of anemia in HIV-infected individuals.


2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Mehmet Fatih Alpdemir ◽  
Medine Alpdemir ◽  
İlknur Toka

AbstractObjetivesIn this case report, the role of the laboratory in the diagnosis process of the patient was treated with methotrexate (Mtx) who was diagnosed with ectopic pregnancy by endometrial biopsy as a result of the exclusion of the possibility of phantom HCG following the patient with βHCG values was discussed.Case presentationOur 25-year-old female patient admitted to our hospital obstetrics and gynecology outpatient clinic with irregular menstruation was evaluated with a pre-diagnosis of pregnancy. The hCG level was examined and ultrasonographically evaluated by the clinician. In the initial evaluation of the 25-year-old patient, the HCG concentration of 47 mIU/mL was determined.ConclusionLaboratory specialists should be aware of potential problems in hCG measurement. Clinicians and laboratory specialists should always be on consultation to solve clinical problems.


Sign in / Sign up

Export Citation Format

Share Document