Oxford Medical Case Reports

We present a case of a 29-year-old immunocompetent female without any known comorbidities with intermittent headache and vomiting who was ultimately diagnosed with cryptococcal meningitis (CM). Though her neuroimaging findings were atypical to those commonly found in CM, she was diagnosed with CM with a cryptococcal antigen test. However, in contrast to the good prognosis as stated in the literature, she died during her course stay at the hospital. Therefore, cryptococcosis should be taken as differentials, even in an immunocompetent individual presenting with features suggestive of meningitis, to prevent the worst clinical outcome...

We describe in detail a case of the anaplastic large cell lymphoma (ALCL) type of primary bone lymphoma, which initially was diagnosed and treated as osteomyelitis. The diagnosis was delayed because of unspecific clinical symptoms and uncertain radiographs and histology. Only relapse of the lymphoma from the same area with involvement of the soft tissue and local lymph nodes allowed to establish a correct diagnosis and start treatment. Also, in this case, we observed the development of the second cancer (melanoma), which has the same cytogenetic abnormality as ALCL (t[2;5])...

[This corrects the article DOI: 10.1093/omcr/omac111.].

Hidradenitis Suppurativa (HS) is a major public health challenge affecting people globally, which is painful and the hard lumps under the skin are prone to infection. We aimed to investigate whether tofacitinib can help people with HS in a safe and effective way. In this study, we report two cases diagnosed with HS. Tofacitinib was used as a part of the treatment plan. The first patient received 5 mg of tofacitinib twice daily, 36 weeks, and the second one for 24 weeks. Clinical outcomes are described...

[This corrects the article DOI: 10.1093/omcr/omac156.].

Paganini-Miozzo syndrome (MRXSPM) is a rare neurogenetic disorder that is transmitted by X-linked recessive inheritance. This is the third case reported of this disease in the world with a novel variant. A boy was referred due to the absence of neck holding and hand tremors. The examinations found facial anomalies. The brain magnetic resonance imaging (MRI) showed cerebral atrophy and diffused white matter, and irregularities were seen in his electroencephalogram (EEG). The echocardiography revealed a mid-muscular ventricular septal defect...

Purple urine bag syndrome (PUBS) is a visually striking and a rare side effect in a patient with urinary tract infection where urine in the catheter bags and tubing turn purple. The urine in PUBS gets its color from the combination of two pigments, indirubin and indigo, which are breakdown products of tryptophan. The most important risk factors include long-term catheterization, female gender, chronic constipation, old age and being bed bound. Here, we present a case of PUBS in an elderly female with a history of bladder cancer that needed catheterization along with constipation...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Eosinophilic pancreatitis (EP) is very rare and characterised by infiltration of eosinophils into the pancreatic parenchyma. A 40-year-old man was diagnosed with total-colitis-type ulcerative colitis at the age of 15 years. He was then diagnosed with steroid-dependent ulcerative colitis. He was given golimumab, which resulted in remission. Ten months after beginning golimumab, he was urgently hospitalised with a diagnosis of acute pancreatitis. Hence, endoscopic ultrasound-guided fine needle biopsy was performed to obtain a definitive diagnosis...

Hyper-IgM syndrome (HIGM) is a rare immunodeficiency phenotype that is usually accompanied by serious infections. We present a curious case of the incidental detection of HIGM in a 45-year-old male with complement C1q deficiency. He had relatively mild sinopulmonary infections, recurrent skin infections and lipomas in his adulthood. Investigations revealed normal enumeration of total peripheral blood B cells and reduced expression of CD40L on his CD4+ T cells. C1q was noted to be absent, due to a peripheral inhibitor such as an autoantibody...

Hermansky-Pudlak syndrome (HPS) is a rare multisystem disorder inherited in an autosomal recessive manner. Its prevalence is 1 in 500 000 to 1 000 000 people worldwide. The cause of this disorder is genetic mutations that lead to defective organelles of lysosomes. In this report, a 49-year-old man is introduced who was referred to the medical center with ocular albinism and recently exacerbated shortness of breath. Imaging showed peripheral reticular opacities, ground-glass opacities of the lungs with subpleural sparing in some regions, and thickening of bronchovascular bundles, which were all in favor of non-specific interstitial pneumonia...

Chylous ascites is a rare condition found in 1 in 20 000 patients admitted to hospital with abdominal distention. It is caused by a limited number of pathologies but can, in rare situations, be idiopathic. Its management is difficult and usually involves correcting the primary pathology, making idiopathic chylous ascites particularly difficult to manage. We present a case of idiopathic chylous ascites extensively investigated over a period of several years. An incidental finding of B cell lymphoma was initially suspected to have been the primary cause of the ascites; however, after successful treatment of this condition, the patient's ascites did not resolve...

Congenital absence of inferior vena cava (IVC) and iliac veins is a rare anomaly that can predispose young patients to develop deep vein thrombosis (DVT). This case report highlights the importance of considering this anatomical abnormality in young patients with unprovoked DVT. We present the case of a 17-year-old girl who visited the emergency department (ED) complaining of right leg pain and swelling for 8 days. An ED ultrasound revealed extensive DVT in the right leg veins, and further investigation with abdominal computed tomography revealed that the patient's IVC and iliac veins were absent and showed the presence of thrombosis...

Scurvy is a rare nutritional deficiency, particularly in developed nations. Sporadic cases are still reported, particularly among alcoholics and malnourished. Herein we present an unusual case of a previously healthy 15-year-old Caucasian girl, who was recently hospitalized for low velocity spine fractures, back pain and stiffness over several months and rash for 2 years. She was later diagnosed with scurvy and osteoporosis. Dietary modifications were instituted together with supplementary vitamin C, supportive treatment with regular dietician review and physiotherapy...

No abstract text is available yet for this article.

Hemichorea is a unilateral movement disorder caused by acute ischemic or hemorrhagic stroke of contralateral cerebral lesions. It is followed by hyperglycemia, and other systemic diseases. Several cases of recurrent hemichorea associated with the same etiology have been reported, but cases with different etiologies have rarely been reported. We report a case in which the patient experienced both strokes and post-stroke-related hyperglycemic hemichorea. Magnetic resonance imaging of the brain appeared different in these two episodes...

Pheochromocytoma presents various clinical manifestations and imprecise signs and symptoms. Along with other diseases, it is considered to be 'the great mimic'. This is the case of a 61-year-old man who on arrival presented with extreme chest pain accompanied by palpitations, and with a blood pressure of 91/65 mmHg. An echocardiogram showed an ST-segment elevation in the anterior leads. The cardiac troponin was 1.62 ng/ml, 50 times the upper limit of normal. Bedside, echocardiography revealed global hypokinesia of the left ventricle, with an ejection fraction of 37%...

Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by a varying degree of skin hyperextensibility and joint hypermobility. EDS is classified into 13 subtypes according to the most recent classification. These subtypes are clinically and genetically heterogenous. The spondylodysplastic subvariety of EDS (spEDS) is caused by homozygous mutations in B4GALT7, B3GALT6 and SLC39A13. To date, 13 individuals with molecularly diagnosed SLC39A13-related spEDS have been reported. The spEDS caused by biallelic pathogenic SLC39A13 variants are characterized by short stature, protuberant eyes with bluish sclera, finely wrinkled palms, hypermobile joints, hyperextensible skin and characteristic radiological findings...

Human monkeypox virus became a burgeoning global health issue when outbreaks were identified in over 100 countries beginning in early 2022. We describe the case of a 38-year-old male with acquired immunodeficiency syndrome who presented one month after the development of painful anal lesions, subsequently confirmed to be monkeypox. The patient was unsuccessfully treated outpatient with multiple courses of oral tecovirimat before presenting to the emergency department for continual lesion progression. Given his AIDS, the patient was at-risk for poor response to oral treatment due to the potential for malabsorption from disruptions in his gut microbiome as well as inability to consume the recommended 25 grams of fat per dose needed for absorption...