scholarly journals Phenylketonuria and juvenile idiopathic arthritis: a case report

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.

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Tomoyuki Ishida ◽  
Jun Kanamori ◽  
Hiroyuki Daiko

Abstract Background Management of postoperative chylothorax usually consists of nutritional regimens, pharmacological therapies such as octreotide, and surgical therapies such as ligation of thoracic duct, but a clear consensus is yet to be reached. Further, the variation of the thoracic duct makes chylothorax difficult to treat. This report describes a rare case of chylothorax with an aberrant thoracic duct that was successfully treated using focal pleurodesis through interventional radiology (IVR). Case presentation The patient was a 52-year-old man with chylothorax after a thoracoscopic oesophagectomy for oesophageal cancer. With conventional therapy, such as thoracostomy tube, octreotide or fibrogammin, a decrease in the amount of chyle was not achieved. Therefore, we performed lymphangiography and pleurodesis through IVR. The patient appeared to have an aberrant thoracic duct, as revealed by magnetic resonance imaging (MRI); however, after focal pleurodesis, the leak of chyle was diminished, and the patient was discharged 66 days after admission. Conclusions Chylothorax remains a difficult complication. Focal pleurodesis through IVR can be one of the options to treat chylothorax.


2018 ◽  
Vol 19 (4) ◽  
pp. 351-353
Author(s):  
E Forbat ◽  
MJ Rouhani ◽  
C Pavitt ◽  
S Patel ◽  
R Handslip ◽  
...  

Background Leptospirosis is a rare infectious illness caused by the Spirochaete Leptospira. It has a wide-varying spectrum of presentation. We present a rare case of severe cardiogenic shock secondary to leptospirosis, in the absence of its common clinical features. Case presentation A 36-year-old woman presented to our unit with severe cardiogenic shock and subsequent multi-organ failure. Her clinical course was characterised by ongoing pyrexia of unknown origin with concurrent cardiac failure. She was initially managed with broad-spectrum antibiotics and inotropes. Percutaneous cardiac biopsy excluded major causes of myocarditis. On day 21 after presentation, she was found to be IgM-positive for leptospirosis. Conclusions This is a rare case of severe cardiogenic shock secondary to leptospirosis infection. The case also highlights the importance of obtaining a thorough social history when assessing a patient with an unusual presentation, as clues can often be missed.


2016 ◽  
Vol 6 (1) ◽  
pp. 45-51
Author(s):  
Deepa Das Achath ◽  
Abhishek Sanjay Ghule ◽  
Preeti Kanchan-Talreja ◽  
Sunanda Bhatnagar

ABSTRACT Fibroosseous lesions of the jaws, including juvenile ossifying fibroma (JOF), pose diagnostic and therapeutic difficulties due to their clinical, radiological, and histological variability. There are two histological varieties of it, one as psammomatoid type and second as trebacular type; here, we present a trebacular type, which is a rare variety. After the clinical examination, radiological and histological analysis, it was diagnosed as juvenile trebacular ossifying fibroma. Although JOF is an uncommon clinical entity, its aggressive local behavior and high recurrence rate means that it is important to make an early diagnosis, apply the appropriate treatment, and, especially, follow-up the patient over the long term. How to cite this article Ghule AS, Achath DD, Kanchan- Talreja P, Bhatnagar S. Juvenile Aggressive Trabecular Ossifying Fibroma of Mandible: A Rare Case Report. J Contemp Dent 2016;6(1):45-51.


2020 ◽  
Vol 8 ◽  
pp. 232470962095328
Author(s):  
Toshihiko Matsuo ◽  
Masato Yashiro

Juvenile idiopathic arthritis–associated uveitis is rare in the Japanese population. In this article, we report a child whose macular edema was controlled for years after cataract surgery with adalimumab, and reviewed 26 Japanese patients in the literature. In this case report, a 4-year-old boy developed band keratopathy, posterior iris synechiae, and complicated cataract in both eyes. Oral prednisolone prescribed at another hospital was discontinued due to high intraocular pressure in both eyes as a steroid responder. At the age of 5 years, he started oral methotrexate 8 mg weekly for recurrent bilateral iridocyclitis and then underwent lensectomy with core vitrectomy in both eyes. Planned intraocular lens implantation was cancelled at surgery because the anterior vitreous had severe inflammatory opacity with diffuse retinal edema in both eyes. Due to persistent macular edema in both eyes 5 months postoperatively, at the age of 6 years, he began to use adalimumab injection 20 mg every 2 weeks. The macular structure depicted by optical coherence tomography became normal in 2 months. At final visit at the age of 11 years, he had the best-corrected visual acuity of 0.8 in the right eye and 0.4 in the left eye, with adalimumab 40 mg every 2 weeks and methotrexate 8 mg weekly. In conclusion, macular edema persistent despite oral methotrexate after cataract surgery could be controlled for long term by adalimumab in a child with juvenile idiopathic arthritis. In the Japanese literature, only 26 additional cases with juvenile idiopathic arthritis–associated uveitis have been reported so far.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Wen Wang ◽  
Xu Lu ◽  
Chengbo Li ◽  
Myong Jun Ri ◽  
Wei Cui

Abstract Background We report a rare case of chronic brucellosis accompanied with myelodysplastic syndrome and neutrophilic dermatosis, which to the best of our knowledge, has never been reported. Case presentation A young man was admitted to our hospital complaining of recurrent fever, arthritis, rashes and anemia. He had been diagnosed with brucellosis 6 years prior and treated with multiple courses of antibiotics. He was diagnosed with myelodysplastic syndrome and neutrophilic dermatosis following bone marrow puncture and skin biopsy. After anti-brucellosis treatment and glucocorticoid therapy, the symptoms improved. Conclusions Clinicians should consider noninfectious diseases when a patient who has been diagnosed with an infectious disease exhibits changing symptoms.


2020 ◽  
Vol 2020 (8) ◽  
Author(s):  
Amjad Soltany ◽  
Ghazal Asaad ◽  
Rami Daher ◽  
Mouhannad Dayoub ◽  
Ali Khalil ◽  
...  

Abstract Ameloblastic fibrosarcoma (AFS) is a rare, aggressive malignant odontogenic tumor. AFS is seen most frequently in second and third decades of life. We are reporting a case of a low grade AFS in a 21-year-old male complaining of a painless swelling in the right side of the maxilla. The patient was treated with surgical excision followed by radiotherapy, which is considered the most effective approach for most of soft tissue sarcomas. AFS has a high-reported recurrence rate (up to 37%); therefore, long-term surveillance for recurrence is crucial.


2017 ◽  
Vol 14 ◽  
pp. 36-39 ◽  
Author(s):  
Georgios K. Georgiou ◽  
Athina Tsili ◽  
Anna Batistatou ◽  
Alexandra Papoudou-Bai ◽  
Georgios Papadopoulos ◽  
...  

2017 ◽  
Vol 9 (3) ◽  
pp. 241-251
Author(s):  
Kamesh Gupta ◽  
Anurag  Rohatgi ◽  
Shivani Handa

Background: Stroke in a migraine with aura has been documented in several cases, even deserving the merit of a classification as complicated migraine. Herein, we present a rare case of migrainous infarct without aura. The diagnosis was challenging due to lack of risk factors. The patient was unique in not having any other comorbidities. Case Presentation: The case is of a 21-year-old female presenting with right-sided hemiplegia and facial drooping. She had had an index presentation of throbbing headaches for the past 2 years, typical of a migraine but not preceded by any aura symptoms. However, in the current episode, the pain became excessively severe and accompanied by right-sided hemiplegia and facial drooping. A full investigation workup using MRI revealed evidence of infarct in the left temporoparietal and basal ganglion region. Conclusion: Our case highlights the need to evaluate silent ischemic stroke in case of prolonged headache with a history of migraine as well as the need for precaution to avoid the use of triptans or opioids in such a case. It also highlights the conditions that need to be excluded before labeling it as a migrainous infarct.


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