scholarly journals Segmental dilatation of ileum in a child with juvenile idiopathic arthritis, localized myopathy with focal stasis induced immunogenic injury as a possible etiology: a case report

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Santosh Kumar Mahalik ◽  
Susama Patra ◽  
Bikasha Bihary Tripathy ◽  
Akash Bihari Pati ◽  
Manoj Kumar Mohanty ◽  
...  

Abstract Background Segmental dilatation of the intestine (SDI) though uncommon is a well-known entity and more than 150 cases of SDI are reported in the literature. The presentation and association of SDI are well described; however, the association of SDI with juvenile idiopathic arthritis (JIA) has not been reported earlier. We described a case of SDI with JIA, who presented with malnutrition and chronic abdominal distension. Case presentation A 5-year-old female child was getting treated for JIA and referred to us for evaluation of chronic abdominal distension. On laparotomy, a huge SDI was found approximately 40 cm from the ileocecal junction and resection of the dilated part with approximately 2–3 cm of healthy ileum on each side and anastomosis was performed. The child recovered well and the features of arthritis also resolute 6 weeks later. From histologic analysis, we have suggested role of localized myopathy in development of segmental dilatation. We have further emphasized the link between the SDI with development of arthritis. Conclusion Etiology of SDI is multifactorial with architectural malformation of the smooth muscle due to localized myopathy is the key. Focal stasis in SDI affecting permeability and increased exposure to macromolecules, and antigens may give rise to immune-mediated arthritis. Surgical management can reduce and cure the symptoms of such patients.

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ting Ting Zhu ◽  
Jin Wu ◽  
Li Yuan Wang ◽  
Xiao Mei Sun

Abstract Background Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. Case presentation The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. Conclusions We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.


2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Vasileios I. Theofilou ◽  
Alexandra Sklavounou ◽  
Prokopios P. Argyris ◽  
Evanthia Chrysomali

Background. Verruciform xanthoma is an uncommon benign tumor, which exhibits a wide range of clinical patterns. The occurrence of the lesion in patients with immune-mediated mucocutaneous diseases may suggest a role of localized epithelial cell damage and chronic inflammation in its pathogenesis. Case Report. A case of verruciform xanthoma on the tongue of a 56-year-old female with oral lichen planus is reported. An asymptomatic pink-white lesion with a granular surface was observed in the left lateral lingual border, which was closely associated with a white plaque and striae. An incisional biopsy was performed, and histologically, epithelial projections in a verrucous pattern were observed. In the subepithelial connective tissue, aggregates of foamy cells that exhibited immunoreactivity for CD68 were noted. The final diagnosis was verruciform xanthoma. The mucosa adjacent to the lesion demonstrated histopathological features consistent with lichen planus. Conclusions. A total of twelve cases of oral verruciform xanthomas in patients with oral lichen planus including the present case have been reported in the literature. The clinician should be aware that verruciform xanthoma may mimic malignancy, and therefore, biopsy is required for definitive diagnosis to be established, especially when this tumor develops within conditions that show potential for malignant transformation.


2021 ◽  
Vol 10 ◽  
pp. 33
Author(s):  
Praveen Mathur ◽  
Sharanabasappa Gubbi ◽  
Aadil Farooq ◽  
Priyanka Mittal ◽  
Gunjan Sharma

Background: Congenital pouch colon (CPC) is a rare variant of high anorectal malformation. More and more varied associations of CPC with other entities are being added to the literature. Case presentation: A 1-day-old male baby presented to the emergency room with marked abdominal distension and absent anal opening. On exploration, the baby was found to have CPC (Type 2) with colonic atresia. This association has not been reported in English literature. Conclusion: This is a report of a case of type 2 CPC with colonic atresia. To the best of our knowledge, such an association has not been reported so far. The final embryological outcome is dictated both by the topography and timing of vascular insult.


2020 ◽  
pp. 1-7
Author(s):  
Aurora Alessandrini ◽  
Giancarlo Brattoli ◽  
Bianca Maria Piraccini ◽  
Ambra Di Altobrando ◽  
Michela Starace

<b><i>Introduction:</i></b> Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X-linked, hereditary disorder of keratinization, characterized by skin involvement and progressive scarring alopecia of scalp, eyebrows, and eyelashes. The diagnosis is helped by the particular clinical features, but pathology is mandatory. <b><i>Case Presentation:</i></b> We described a case of a female patient referred to the outpatient’s hair consultation of our department, in which we performed trichoscopy as a very useful tool for the diagnosis, followed by pathology that confirmed KFSD. <b><i>Conclusion:</i></b> In our article, we underlined the importance of trichoscopy for the diagnosis of this hair disease, with also a review of the literature on diagnosis and treatment.


Author(s):  
Koichi Sugihara ◽  
Risa Wakiya ◽  
Hiromi Shimada ◽  
Mikiya Kato ◽  
Tomohiro Kameda ◽  
...  

Abstract Background Tocilizumab has been shown to be effective for treatment of juvenile idiopathic arthritis (JIA). To our knowledge, this is the first reported case of interstitial lung disease occurring shortly after tocilizumab infusion in a patient with JIA. Case presentation A 14-year-old female patient with polyarticular JIA developed interstitial lung disease after intravenous and subcutaneous administration of tocilizumab. Her condition improved with glucocorticoid therapy. Conclusion Our results suggest that increased interleukin-6 levels in the blood following tocilizumab treatment may be linked to development of interstitial lung disease.


F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 400
Author(s):  
Paraskevas Filippidis ◽  
Francois van Ouwenaller ◽  
Alberto Cerutti ◽  
Anaïs Geiger-Jacquod ◽  
Christine Sempoux ◽  
...  

Background: Respiratory symptoms and pneumonia are the predominant features of Coronavirus disease 2019 (COVID-19) due to emerging SARS-CoV-2 virus, but extrapulmonary manifestations are also observed. For instance, some degree of liver injury has been described among patients requiring hospital admission for severe COVID-19. However, acute febrile hepatitis as an initial or predominant manifestation of COVID-19 has been rarely reported. Case presentation: A 34-year-old man without underlying medical conditions presented with fever of unknown origin for two weeks in the absence of respiratory symptoms or other complaints. Laboratory testing revealed isolated acute hepatitis, for which an extensive microbiological work-up did not reveal identification of the causal agent. PCR testing for SARS-CoV-2 on a nasopharyngeal swab was negative on two occasions and initial serology for SARS-CoV-2 (at 15 days from symptoms onset) was also negative. However, repeated SARS-CoV-2 serological testing at 30 days demonstrated seroconversion leading to the diagnosis of COVID-19-related hepatitis. The patient's condition progressively improved, while transaminases steadily declined and eventually returned back to normal within 30 days. Conclusions: We describe here a unique case of SARS-CoV-2 isolated febrile hepatitis in a young and previously healthy man, which was diagnosed by demonstration of seroconversion, while PCR screening was negative. This case report highlights the role of repeated serological testing for the diagnosis of extrapulmonary manifestations of COVID-19.


Author(s):  
Ibrahim Haruna Gele ◽  
Muhammad Baba Sule ◽  
Sadisu Mohammed Maaji ◽  
Abubakar Musa ◽  
Muhammad Abacha

Neonatal small left colon syndrome is a well-defined functional disease of the lower colon and it results in signs and symptoms of intestinal obstruction. It is an uncommon cause of neonatal intestinal obstruction characterised by an abrupt transition of intestinal caliber at or near the splenic flexure. More than 50% of affected patients are born to mothers with diabetes. We report a five-day-old neonate who presented with abdominal distension and vomiting diagnosed to have small left colon syndrome by contrast enema. He had surgical resection of the narrowed segment and anastomosis with subsequent resolution of symptoms.


F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 400
Author(s):  
Paraskevas Filippidis ◽  
Francois van Ouwenaller ◽  
Alberto Cerutti ◽  
Anaïs Geiger-Jacquod ◽  
Christine Sempoux ◽  
...  

Background: Respiratory symptoms and pneumonia are the predominant features of Coronavirus disease 2019 (COVID-19) due to emerging SARS-CoV-2 virus, but extrapulmonary manifestations are also observed. For instance, some degree of liver injury has been described among patients requiring hospital admission for severe COVID-19. However, acute febrile hepatitis as an initial or predominant manifestation of COVID-19 has been rarely reported. Case presentation: A 34-year-old man without underlying medical conditions presented with fever of unknown origin for two weeks in the absence of respiratory symptoms or other complaints. Laboratory testing revealed isolated acute hepatitis, for which an extensive microbiological work-up did not reveal identification of the causal agent. PCR testing for SARS-CoV-2 on a nasopharyngeal swab was negative on two occasions and initial serology for SARS-CoV-2 (at 15 days from symptoms onset) was also negative. However, repeated SARS-CoV-2 serological testing at 30 days demonstrated seroconversion leading to the diagnosis of COVID-19-related hepatitis. The patient's condition progressively improved, while transaminases steadily declined and eventually returned back to normal within 30 days. Conclusions: We describe here a unique case of SARS-CoV-2 isolated febrile hepatitis in a young and previously healthy man, which was diagnosed by demonstration of seroconversion, while PCR screening was negative. This case report highlights the role of repeated serological testing for the diagnosis of extrapulmonary manifestations of COVID-19.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Anka Sharma ◽  
Vikrant O. Kasat ◽  
Amit R. Parate ◽  
Anirudh Upmanyu ◽  
Jaishri S. Pagare

Abstract Background Parafunctional oral habits are known to cause deleterious effects on maxillofacial structures. One such effect is traumatic injuries secondary to chewing inanimate objects like pencils. Following trauma, the lead of the pencil has been reported to embed in the soft tissue of the oral cavity, appearing as a grayish pigmentation (graphite tattoo). However, such pigmentation has never been reported in the hard tissue (teeth). Case presentation We hereby report an interesting, first of its kind case in a four-year-old female child. She had been misdiagnosed and referred for the management of a carious tooth; which was, in reality, an exogenous deposit. Conclusions The authors highlight the impact of comprehensive history taking on arriving at the diagnosis. Counselling of the child and the parents goes a long way in flouting such deleterious habits.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mohamed Amine Zaara ◽  
Sarra Gharsallaoui ◽  
Nihed Abdessayed ◽  
Sarra Mestiri ◽  
Dorra Chiba ◽  
...  

Abstract Background Choroid plexus papillomas (CPPs) are histopathologically benign and rare central nervous system tumors. These tumors remain more frequent in children than adults. It is infrequent for these tumors to cause a sudden unexpected death. We aim in this case to discuss the unusual and fatal presentation of choroid plexus papilloma and the mechanism of death. Case presentation we report the case of a 61-year-old man with no medical history, diagnosed at autopsy with a previously unknown CPP. Initial complaints were chronic headache occurring in the last month and acute chest pain for two days. The forensic autopsy including the histopathologic examination showed a tumoral mass of the choroid plexus in the fourth ventricle diagnosed as a psammomatous CPP. The cause of death in this case was attributed to a massive cerebral edema caused by the tumoral mass. Conclusions Through this case report, we stress the importance of an early and a vigorous investigation of every headache and an early detection of this tumor and we highlight as well the role of the post mortem examination to detect such a fatal complication.


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