Oxford Medical Case Reports最新文献

Despite its rarity, pilonidal sinus (PNS) in atypical locations poses significant diagnostic challenges, underscoring the need for early identification and appropriate treatment strategies. This case highlights a rare occurrence of a PNS in the axilla, emphasizing the importance of recognizing uncommon presentations of common ailments. A 27-year-old male presented with a 13-year history of painless axillary discharge, diagnosed with PNS based on clinical evaluation. Surgical excision under local anesthesia successfully treated the condition, showcasing the effectiveness of tailored management in addressing rare presentations of PNS. Surgical therapy for axillary pilonidal sinus enables complete resection and provides precise histopathological diagnoses, making it a suitable treatment option, particularly for cases involving atypical locations.

Oral angiokeratoma (OAK) is an uncommon vascular anomaly with various clinical manifestations. Typically associated with generalized angiokeratoma. It rarely manifests as a solitary lesion without any underlying systemic conditions. Globally, only around 40 oral cases have been documented to date. Here, we present the 41st solitary oral angiokeratoma in the tongue in a 30-year-old female patient, this case was effectively managed without any surgical intervention.

This paper details a rare case of primary hyperoxaluria type 1 (PH1) identified through a bone marrow biopsy in a 46-year-old female patient with a history of nephrolithiasis and chronic renal failure. Genetic analysis identified the p.Ile244Thr mutation in the AGXT gene, confirming the diagnosis of PH1. The paper aims to highlight this case, focusing on the genetic basis of the disorder, including the identified mutation. It underscores the importance of early diagnosis of infantile and childhood nephrolithiasis, particularly in cases with familial history, to prevent renal loss and systemic oxalosis.

This case report discusses the diagnostic challenges posed by transient ischaemic attacks (TIAs) and minor strokes presenting with atypical symptoms, focusing on a 62-year-old male presenting with isolated speech difficulties reminiscent of Broca's aphasia. Despite initial inconclusive imaging, subsequent evaluation revealed minor periventricular changes consistent with ischaemic small vessel disease and a pre-existing lacunar infarct. The resolution of symptoms within 10 days highlights the transient nature of the event. The case underscores the importance of recognising nuanced presentations of cerebrovascular events and the necessity for standardised diagnostic criteria and assessment tools for transient speech impairments resembling Broca's aphasia. Further research into the mechanisms underlying these transient events, utilising advanced imaging techniques, such as diffusion-weighted MRI (DWI), may be warranted to facilitate early recognition and appropriate management in clinical practice.

Spontaneous coronary artery dissection (SCAD) is an important cause of acute coronary syndrome among young women, especially in the postpartum period. Pregnancy-Associated SCAD (P-SCAD), an aggressive subtype, frequently involves multi-vessel dissection, decreased left ventricular function, and higher mortality. Here we present a rare case of postpartum pre-eclampsia complicated by multi-vessel SCAD in a 40-year-old multiparous Haitian black woman. Diagnosis was established with coronary angiography which revealed spontaneous dissection of the left anterior descendant, left circumflex, and right coronary arteries. Given the patient remained hemodynamically stable no percutaneous coronary intervention was indicated. She experienced recurrent anginal symptoms during her hospitalization that were managed with the addition of clopidogrel. The pathophysiology of P-SCAD is not well understood and thought to be related to an increased state of hemodynamic stress and hormonal fluctuation. The role of pre-eclampsia as a risk factor remains poorly defined and warrants further investigation.

Pathognomonic EEG patterns have been described in genetic conditions such as Angelman and Rett syndromes. EEG patterns along the ictal-interictal continuum have been increasingly recognized with the greater availability of continuous EEG monitoring; however, treatment decisions may be difficult with unpredictable clinical implications. Rhythmic High-Amplitude Delta Activity with Superimposed (Poly) Spikes (RHADS) has been described as a particular EEG pattern in POLG1 Alpers Syndrome. The balance between treating subclinical seizures and managing encephalopathy in these patients is challenging.

Malignant mesonephric tumor of the uterine cervix is an extremely uncommon subtype of cervical adenocarcinoma with rare, documented cases in the literature. In this report, we present a case of 58 yo, with abdominal pain and ascites that was found to have a synchronous presence of a mesonephric adenocarcinoma of the cervix and advanced serous ovarian carcinoma on the surgical specimen. The histological study identified a tumor showing a mix of tubular and ductal growth patterns. Immunohistochemical analyses were positive for cytokeratin, vimentin, calretinin and CD10. However, the tumor cells were negative for estrogen receptor and progesterone receptor. The patient received neoadjuvant chemotherapy with a combination of carboplatin and gemcitabine followed by optimal debulking surgery and was alive after 18 months of follow up. The management of this rare case remains unclear due to the absence of management guidelines.

Acromegalic cardiomyopathy is a significant cardiovascular complication associated with acromegaly, caused by excessive growth hormone production from a pituitary adenoma. Early diagnosis can be challenging due to its insidious nature. This case underscores the critical significance of timely medical intervention, illustrating favorable outcomes resulting from prompt therapeutic measures.

Crohn's disease (CD) is a granulomatous inflammatory bowel disease. Around 25% of CD patients exhibit extraintestinal manifestations, though pulmonary involvement is rare. This study presents a case of CD causing pleural effusion. A 43-year-old man visited the pulmonology clinic with a dry cough for one-month, right-side pleuritic chest pain, and exertional dyspnea. He was treated with antihistamines and antitussive syrup, with incomplete relief. A chest CT scan showed bilateral mild pleural effusion. Given his occasional black stools and high serum calprotectin, a colonoscopy confirmed CD. Pulmonary manifestations may involve airway, parenchymal, and interstitial pathologies, but no distinctive pathological findings differentiate CD's pulmonary manifestations from other causes. In conclusion, isolated bilateral pleural effusion and the underlying pleuritis as a pulmonary manifestation of CD-characterized by dry cough and pleuritic chest pain, particularly preceding the diagnosis of CD-is extremely rare but possible.