scholarly journals Melkersson–Rosenthal Syndrome in Childhood: Report of Three Paediatric Cases and a Review of the Literature

Author(s):  
Savasta ◽  
Rossi ◽  
Foiadelli ◽  
Licari ◽  
Elena Perini ◽  
...  

Melkersson–Rosenthal syndrome (MRS) in children is a rare condition, clinically characterised by a triad of synchronous or metachronous symptoms: recurrent peripheral facial palsy, relapsing orofacial oedema, and a fissured tongue; the most recent review published on the topic has reported 30 published patients. The aetiology of this disease is still unclear. However, genetic factors, as well as alterations in immune functions, infections, and allergic reactions have been postulated. We report three children suffering from MRS and perform a literature review of paediatric cases. Taking into account that clinical and laboratoristical criteria for the diagnosis of MRS are lacking, this syndrome is probably underestimated, and we suggest increasing awareness of such a rare syndrome. Close multidisciplinary follow-up of these children with a team composed by paediatricians, neurologists, neuro-ophthalmologists, dermatologists, and otolaryngologists is crucial to guarantee exhaustive management and treatment success, while minimising relapses.

Author(s):  
Adam Lee ◽  
Adam Bajinting ◽  
Abby Lunneen ◽  
Colleen M. Fitzpatrick ◽  
Gustavo A. Villalona

AbstractReports of incidental pneumomediastinum in infants secondary to inflicted trauma are limited. A retrospective review of infants with pneumomediastinum and history of inflicted trauma was performed. A comprehensive literature review was performed. Three infants presented with pneumomediastinum associated with inflicted trauma. Mean age was 4.6 weeks. All patients underwent diagnostic studies, as well as a standardized evaluation for nonaccidental trauma. All patients with pneumomediastinum were resolved at follow-up. Review of the literature identified other cases with similar presentations with related oropharyngeal injuries. Spontaneous pneumomediastinum in previously healthy infants may be associated with inflicted injuries. Clinicians should be aware of the possibility of an oropharyngeal perforation related to this presentation.


2017 ◽  
Vol 4 (4) ◽  
pp. 255-262
Author(s):  
Ryan Rhome ◽  
Isabelle M Germano ◽  
Ren-Dih Sheu ◽  
Sheryl Green

Abstract Background Growth hormone (GH)-secreting pituitary adenomas represent an uncommon subset of pituitary neoplasms. Stereotactic radiosurgery (SRS) and fractionated stereotactic radiotherapy (FSRT) have been used as primary or adjuvant treatment. The purpose of this study is to report the long-term tumor control and toxicity from our institution and to perform a systematic literature review of acromegaly patients treated with FSRT. Methods We retrospectively reviewed all patients treated with FSRT (median dose 50.4 Gray [Gy], range 50.4–54 Gy) between 2005 and 2012 who had: 1) GH-secreting adenoma with persistently elevated insulin growth factor-1 (IGF-1) despite medical therapy and 2) clinical follow up >3 years after FSRT. Patients were treated with modern FSRT planning techniques. Biochemical control was defined as IGF-1 normalization. Systematic review of the literature was performed for FSRT in acromegaly. Results With a median follow-up of 80 months, radiographic control was achieved in all 11 patients and overall survival was 100%. Long-term biochemical control was achieved in 10 patients (90.9%) with either FSRT alone (36.4%) or FSRT with continued medical management (45.5%). No patient experienced new hypopituitarism, cranial nerve dysfunctions, or visual deficits. Our systematic review found published rates of biochemical control and hypopituitarism vary, with uniformly good radiographic control and low incidence of visual changes. Conclusions Adjuvant FSRT offered effective long-term biochemical control and radiographic control, and there was a lower rate of complications in this current series. Review of the literature shows variations in published rates of biochemical control after FSRT for acromegaly, but low incidence of serious toxicities.


Folia Medica ◽  
2021 ◽  
Vol 63 (2) ◽  
pp. 282-286
Author(s):  
Athena Myrou ◽  
Theodoros Aslanidis ◽  
Andreas Protopapas ◽  
Elisavet Psoma ◽  
Andreas Kontosis ◽  
...  

Though being usually a cutaneous tumor, melanomas can occur in several extracutaneous sites. Primary mucosal melanomas are rare, and primary gastric mucosal melanomas are considered extremely rare. Compared with cutaneous and ocular melanoma, mucosal melanomas have the lowest five-year survival. High level of suspicion of such rare condition may be the only way for early detection, diagnosis and chance for successful management of similar cases. In the present report, a case of a primary gastric melanoma in a 73-year-old man is described, along with a short review of the literature


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Serenella Serinelli ◽  
Lorenzo Gitto ◽  
Daniel J. Zaccarini

Abstract Background Synovial sarcomas are infrequent malignant tumors occurring mostly in adolescents and young adults. The occurrence of synovial sarcoma in the hand-wrist area is rare (4 to 8.5% of all synovial sarcomas in different studies). Case presentation This report documents an uncommon case of synovial sarcoma occurring in the hand-wrist of a 69-year-old Caucasian woman. She was subsequently treated with surgical excision and radiotherapy without recurrence after follow up. Conclusions This paper aims to characterize the demographic, pathologic, and clinical features with a literature review. The present literature review confirms that hand-wrist synovial sarcomas are more frequent among males and subjects 10 to 40 years old. Most cases in this location are usually not larger than 5 cm in size. The five-year survival rate is higher than that reported in a previous review on hand synovial sarcomas, and this suggests an improved survival in recent decades.


2018 ◽  
Vol 6 (1) ◽  
Author(s):  
Michael McGee ◽  
Stephen Brienesse ◽  
Brian Chong ◽  
Alexander Levendel ◽  
Katy Lai

Abstract Whipple’s disease is a rare infective condition, classically presenting with gastrointestinal manifestations. It is increasingly recognized as an important cause of culture-negative endocarditis. We present a case of Whipple’s endocarditis presenting with heart failure. A literature review identified 44 publications documenting 169 patients with Whipple’s endocarditis. The average age was 57.1 years. There is a clear sex predominance, with 85% of cases being male. Presenting symptoms were primarily articular involvement (52%) and heart failure (41%). In the majority of cases, the diagnosis was made on examination of valvular tissue. Preexisting valvular abnormalities were reported in 21%. The aortic valve was most commonly involved, and multiple valves were involved in 64% and 23% of cases, respectively. Antibiotic therapy was widely varied and included a ceftriaxone, trimethoprim, and sulfamethoxazole combination. The average follow-up was 20 months, and mortality was approximately 24%. Physician awareness is paramount in the diagnosis and management of this rare condition.


2007 ◽  
Vol 14 (4) ◽  
pp. 225-227 ◽  
Author(s):  
R Lai ◽  
YK Lau

Superior dislocation of the patella is a rare condition. We report a 70-year-old gentleman with his patella lower pole osteophyte interlocked with the anterior femoral condyles after hyperextension. The patella was reduced successfully with proper reduction technique under sedation. The active range of movement ranged from full extension to 120-degree flexion a few minutes after reduction. He walked unaided afterwards. There was no knee problem in two years of follow-up. On reviewing the literature, only 20 cases were reported till year 2007 worldwide and 19 cases could be treated by closed reduction with or without sedation.


2019 ◽  
Vol 57 (6) ◽  
pp. 778-781
Author(s):  
Yoshimichi Imai ◽  
Masahiro Tachi

Lateral palatal synechiae are rare congenital adhesions running from the free borders of the cleft palate to the lateral parts of the tongue or the oral cavity floor, typically found in cleft palate lateral synechiae syndrome. We present a case of congenital lateral palatal synechia associated with a cleft palate that we treated and followed up for 10 years. We present the long-term prognosis. We also discuss variations in intraoral synechiae associated with cleft palate and the etiology of lateral palatal synechiae through a literature review.


2013 ◽  
Vol 5 (2) ◽  
pp. 23
Author(s):  
Nathan A. Hoag ◽  
Kiara Hennessey ◽  
Alan So

Penile fracture is a rare injury most commonly sustained duringsexual intercourse. We report the case of a 35-year-old man whopresented with bilateral rupture of the corpora cavernosa andcomplete disruption of the urethra. A review of the literature onpenile fracture is also presented. Urgent surgical exploration wasperformed and the injuries repaired primarily. In follow-up, thepatient reported satisfactory erectile function. This case highlightsthe importance of early surgical repair and evaluation for concomitanturethral injuries in cases of penile fracture.


1998 ◽  
Vol 39 (5) ◽  
pp. 583-586 ◽  
Author(s):  
A. Berger ◽  
K. Brabrand

Testicular microlithiasis (TM) is a rare condition characterized by the presence of multiple small intratesticular calcifications. the etiology is unknown but the condition has been observed in a variety of different urological conditions. We report on 5 cases diagnosed by ultrasonography at our departments from 1992 to 1994 A review of the literature plus our present 5 cases gives a total of 124 reported cases of TM. TM was associated with testicular malignancy in 44 patients (35%) of whom 24 (19%) had a seminoma and 20 (16%) a non-seminoma. There were 4 reports of testicular malignancy developing in patients with a prior diagnosis of TM. the condition should be considered premalignant and a careful follow-up of TM patients is advocated


2021 ◽  
Vol 8 (10) ◽  
pp. 3160
Author(s):  
Ji Chen ◽  
Anik Sarkar ◽  
Mouhannad Jaber

Median arcuate ligament syndrome (MALS) is a rare condition where chronic recurrent abdominal pain is related to the compressive effects of the median arcuate ligament on the coeliac artery. The mechanism behind this phenomenon is incompletely understood but thought to be both ischemic and neuropathic in nature. As a result, the management of this condition remains controversial. Furthermore, while there have been a variety of options both radiological and interventional described for the investigation of MALS, there has yet to be a consensus in how patients exhibiting symptoms should be assessed and worked up. In this article, we described a laparoscopic coeliac trunk first approach in a young female patient and following review of the literature, propose an algorithm that can be used in the assessment and management of suspected MALS.


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