scholarly journals Melkersson–Rosenthal syndrome in the context of sarcoidosis: a case report 

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
J. Casper ◽  
S. Mohammad-Khani ◽  
J. J. Schmidt ◽  
J. T. Kielstein ◽  
T. Lenarz ◽  
...  

Abstract Background Melkersson–Rosenthal syndrome is a rare disease characterized by the triad of recurrent orofacial swelling with facial paralysis and fissured dorsal tongue. Histologically, noncaseating granulomatous inflammation occurs that confirms the diagnosis. Overlaps between granulomatous diseases such as sarcoidosis and Crohn’s disease are described. Systemic corticosteroid therapy is the treatment of choice for acute attacks. Case presentation We here present a case of a 59-year-old White woman suffering from Melkersson–Rosenthal syndrome with a past history of sarcoidosis on therapy with leflunomide in combination with low-dose tacrolimus successfully treated with the anti-leprosy drug clofazimine after failure of systemic steroid therapy. Conclusions We propose clofazimine as an alternative treatment in steroid-refractory cases.

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Monia Ghammam ◽  
Lobna Chouchane ◽  
Jihene Houas ◽  
Mouna Bellakhdher ◽  
Heyfa Bel Hadj Miled ◽  
...  

Abstract Background Pediatric neck masses are a common complaint in children. The most common etiologies include congenital lesions, lymphadenopathy, vascular malformations, inflammatory, and malignant lesions. Spontaneous sternocleidomastoid hematoma is exceptional in infant. Case presentation We describe a case of spontaneous cervical hematoma diagnosed in a 4-month-old child. Past history did not reveal a neck trauma, a history of difficult labor, a bleeding disorder or a pertinent family history. The diagnosis was suspected based on the imaging features and confirmed after surgical removal. Conclusions Sternocleidomastoid swelling is commonly encountered in infancy. Ultrasound still remains the initial modality of choice. The management modalities are controversial.


2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Arti Khatri ◽  
Nidhi Mahajan ◽  
Niyaz Ahmed Khan ◽  
Natasha Gupta

Abstract Background Mixed cortico-medullary adrenal carcinoma (MCMAC) is an extremely rare entity with scarce literature on its cytomorphology. Case presentation A 2-year-old girl presented with abdominal pain for 3 days and a past history of fever with significant weight loss. On examination, a non-tender left hypochondrial firm mass and an enlarged left supraclavicular node were found. Twenty-four-hour urinary levels of VMA were marginally high. Contrast-enhanced computed tomography of the abdomen showed a suprarenal heterogeneous mass encasing major vessels. Aspiration cytology of both mass and node showed similar features comprising a predominant population of singly scattered large cells with moderate cytoplasm, eccentric nucleus and prominent nucleolus in a necrotic background. Tumour cells expressed Synaptophysin and Melan-A. In view of increasing respiratory distress, debulking surgery was performed, and histopathology of the specimen revealed the presence of both malignant medullary and cortical components supported by immunohistochemistry making a final diagnosis of MCMAC. The patient succumbed to death in the postoperative period. The cytology slides were reviewed and were seen to show a dual cell population. Conclusion Coexistent malignant cortical and medullary tumour of the adrenal gland is the first case reported in the paediatric age group in the literature with only three previous case reports in adults.


Author(s):  
Anushri Kale ◽  
Aditi Badwaik ◽  
Pallavi Dhulse ◽  
Archana Maurya ◽  
Bibin Kurian

Introduction: Hirschsprung's disease is the most common cause of large intestinal obstructing in neonates. Hirschsprung's disease is a congenital anomaly caused by migratory failure of neural crest cells leading to abnormal innervations of the bowel .The defect begins in the internal and sphincter and extends proximally for a variable length of gut. Hirschprung's disease is a disorder of the gut caused due to congenital absence of ganglion cells in the sub-mucosal and myenteric plexus of intestine. This disease is also known as megacolon or congenital Aganglionic megacolon. Case presentation: A 2 years old male child, known case of Hirschprung’s disease, was brought to AVBRH for further management. As narrated by the mother, the child was not passing stool since birth. There was no history of abdominal distention, vomiting or fever. The child pass the stool with the help of enema which was given to the child in the morning and evening. Mast. Devansh has past history of NICU stay. In View of not passing stools, USG of abdomen and pelvis done. Endorectal pull through surgery was done on 4/02/2021 under general anesthesia. No any past surgical history. There is a past history of rectal biopsy done in 1 1/2 month of age. Conclusion:The patient was admitted in AVBRH for further management. Then the report mainly focused on surgical management and quality nursing care due to which patient was discharged without any further complication and satisfaction.


2010 ◽  
Vol 124 (11) ◽  
pp. 1212-1215 ◽  
Author(s):  
C M Philpott ◽  
A R Javer

AbstractObjective:A 65-year-old man presented with a nine-month history of swelling in the midline of the forehead. After surgical intervention, this lesion was found to be a tumefactive fibroinflammatory lesion of the frontal sinus. This case report and review aims to report this new location for tumefactive fibroinflammatory lesion, and to discuss whether, in retrospect, there would have been alternative options to surgery.Methods:Case report and literature review.Results:Tumefactive fibroinflammatory lesions are rare. Although cases in the sinonasal tract have been described, none involving the frontal sinus have previously been reported. A review of the literature suggests that these lesions have an association with other fibroinflammatory lesions, and may be amenable to systemic steroid therapy.Conclusion:Each case should be managed on its merits, and a biopsy taken followed by subsequent screening for associated fibroinflammatory lesions. In the case of an isolated lesion, a surgical approach is probably favoured in a patient suitable for general anaesthesia.


2020 ◽  
Vol 20 (2) ◽  
pp. 753-757
Author(s):  
Osita U Ezenwosu ◽  
Barth F Chukwu ◽  
Ndubuisi A Uwaezuoke ◽  
Ifeyinwa L Ezenwosu ◽  
Anthony N Ikefuna ◽  
...  

Introduction: Glanzmann’s Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder due to defective platelet membrane glycoprotein GP IIb/IIIa (integrin αIIbβ3). The prevalence is estimated at 1:1,000,000 and it is commonly seen in areas where consanguinity is high. Case Presentation: The authors report a 12 year old Nigerian girl of Igbo ethnic group, born of non-consanguineous parents, who presented with prolonged heavy menstrual bleeding which started at menarche 3 months earlier, weakness and dizziness. She had a past history of recurrent episodes of prolonged epistaxis, gastrointestinal bleeding and gum bleeding during early childhood. On examination, she was severely pale with a haemic murmur and vaginal bleeding. The initial diag- nosis was menorrhagia secondary to bleeding diathesis possibly von Willebrand’s Disease. She was on supportive treatment with fresh whole blood, fresh frozen plasma and platelets until diagnosis of GT was made in the USA. Currently, she is on 3 monthly intramuscular Depo-provera with remarkable improvement. Conclusion: To the best of our knowledge, this is the first documented report of GT in our environment where consan- guinity is rarely practised. Our health facilities require adequate diagnostic and treatment facilities for rare diseases like GT. Keywords: Glanzmann’s thrombasthenia; Menorrhagia; Nigerian girl.


1987 ◽  
Vol 32 (9) ◽  
pp. 785-787 ◽  
Author(s):  
M.L. Thurling

This is a case presentation of a 52 year old woman with a past history of schizophrenia who develops an acute psychosis. The point is emphasized that a deterioration in mental state in a patient with schizophrenia should not too readily be attributed to the functional’ psychosis. Psychiatric patients may present with organic mental disorders requiring medical or surgical intervention. Thus the psychiatrist must always be alert to the possibility of new pathology and examine carefully for signs of organic disturbances. This case turned out to be one of acute hyperparathyroidism cured by surgical removal of an adenoma of the parathyroid gland.


2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S245-S246
Author(s):  
Brandon Smith ◽  
Erin K McCreary ◽  
J Alex Viehman

Abstract Background Bartonella henselae neuroretinitis (BHNR) is a rare complication of cat scratch disease (CSD) occurring in 1–2% of cases. BHNR requires prompt diagnosis and treatment to prevent potential vision loss. Doxycycline, in combination with rifampin, is consider the treatment of choice. Empiric therapy is often started based on clinical suspicion prior to serologic confirmation. We present a case of BHNR requiring doxycycline graded challenge. Methods We report a case of a 45-year-old female with a past history of multiple sclerosis treated with natalizumab presenting with acute right-sided vision loss. She reported suffering a cat scratch 6 weeks prior and had noteworthy tick exposure. She was admitted to our hospital for progressively worsening vision loss. MRI brain demonstrated right-sided enhancement consistent with retinitis. Ophthalmology exam suggestive of infectious papillitis, neuroretinitis, and granulomatous inflammation. Results Infectious diseases (ID) was consulted with concern for BHNR and a history of a severe tetracycline allergy, throat swelling age 17. Given declining vision and a differential including both Lyme disease and BHNR, the decision was made to empirically treat with doxycycline while awaiting serologic studies. She successfully underwent doxycycline graded challenge (10mg administered IV followed by 100mg administered IV one hour later) and ultimately completed a 6-week course of doxycycline in combination with 2 weeks of rifampin followed by 4 weeks of azithromycin. Bartonella serologies returned positive 1:256 and her Lyme screen was negative. At her 6-week follow up, her vision had significantly improved but not yet returned to baseline. Retina images Visual field testing Conclusion Doxycycline serves as a treatment of choice for BHNR; however, our patient reported a severe, likely IgE-mediated reaction to tetracycline 28 years prior. She subsequently tolerated the first doxycycline graded challenge at our institution. Unlike B-lactam allergies, there is a paucity of literature exploring the cross-reaction potentials of various tetracyclines. Limited evidence has suggested that cross-reactions are not absolute. Tetracycline allergies present an opportunity for antimicrobial stewardship. Disclosures All Authors: No reported disclosures


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Michael Greiner ◽  
Alexia Anagnostopoulos ◽  
Daniel Pohl ◽  
Reinhard Zbinden ◽  
Andrea Zbinden

Abstract Background Aeromonas hydrophila is a gram-negative facultative anaerobic coccobacillus, which is an environmental opportunistic pathogen. A. hydrophila are involved in several infectious diseases such as gastroenteritis, septicemia and wound infections. However, gastroenteritis caused by Aeromonas spp. are rare and the clinical relevance of Aeromonas species in stool specimens is still under debate. Case presentation Our case concerns a 32-year-old woman who presented at hospital with a worsening watery diarrhea and fever requiring intensive care. A cholera-like illness was diagnosed. The patient had a past history of an anti-Hu syndrome with a myenteric ganglionitis. A molecular multiplex RT-PCR (QIAstat-Dx Gastrointestinal Panel, QIAGEN) covering a broad spectrum of diverse gastrointestinal pathogens performed directly from the stool was negative but the stool culture revealed growth of A. hydrophila. Further investigations of the A. hydrophila strain in cell cultures revealed the presence of a cytotoxic enterotoxin. Conclusions Although A. hydrophila rarely causes gastroenteritis, Aeromonas spp. should be considered as a causative agent of severe gastroenteritis with a cholera-like presentation. This case highlights the need to perform culture methods from stool samples when PCR-based methods are negative and gastrointestinal infection is suspected.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Linfu Zheng ◽  
Dazhou Li ◽  
Wen Wang

Abstract Background Ectopic spleen is extremely rare. Most cases are congenital, acquired ectopic spleen may be a consequence of surgery or trauma to the spleen. The ectopic spleen in the gastric wall we reported is even rarer. Case presentation We report a 41-year-old female patient, with a past history of splenectomy, who presented with heartburn. Gastroscopy revealed a swelling in the fundus in the stomach. Ultrasonography and computed tomographic examination suggested the possibility of gastrointestinal stromal tumor. We performed endoscopic resection of the mass. Pathological examination of the resected mass showed ectopic spleen. Conclusion When a patient with a history of splenectomy presents with a gastric submucosal tumor, ectopic spleen should also be considered in the differential diagnoses. And minimally invasive endoscopic treatment can achieve the purpose of diagnosis and treatment for unobvious submucosal tumors.


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