BMJ Case Reports最新文献

We present the case of a toddler displaying neuroregression post-acute gastroenteritis, initially suggesting neurodegenerative disorders. Further investigations showed atypical results-neuroimaging was inconsistent with suspected disorders, while fundus evaluation, evoked potentials and nerve conduction velocity were normal. Specialised tests using gas chromatography mass spectrometry and tandem mass spectrometry identified methylmalonic acidaemia (MMA), implicating abnormal neurometabolism. Early diagnosis and comprehensive treatment are essential. A low-protein diet suitable for MMA along with a syrup containing vitamin B12 and levocarnitine were prescribed. Notable developmental improvements were seen after 18 days of hospitalisation and up to 36 months of age, with no further regression. To date, only one case of MMA mimicking Rett syndrome, an atypical neurodegenerative variant, has been reported. This case highlights the diagnostic complexity of MMA, particularly when it mimics neurodegenerative disorders.

Oncocytoma is a rare benign neoplasm of the glandular tissue, most commonly found in the caruncle of the eye. These lesions have an excellent prognosis and have not been reported to recur after resection from the caruncle. Given the wide range of differentials and potential for malignancy, excision and histopathological examination are recommended to establish the diagnosis and guide proper treatment.

Malignant peripheral nerve sheath tumours (MPNSTs) are aggressive sarcomas that occur rarely in the cervix. Considering the varied clinical features and the absence of a pathognomonic immunohistochemical marker, it is always challenging to diagnose these tumours. Treatment has not been standardised as yet, but a combination of surgery, radiotherapy and chemotherapy is used to treat MPNSTs of the cervix. Here, we report a case of a woman in her 40s with a 10×7 cm polypoidal lesion in the cervix, diagnosed as an MPNST. She was treated with surgery, ifosfamide-based chemotherapy and external beam radiotherapy before developing pulmonary metastases. She was treated with stereotactic body radiotherapy for the pulmonary metastases, and the patient has been on follow-up since then. We are also summarising the clinicopathological findings, surgical treatment and follow-up of all reported cases of cervical MPNSTs to date.

Cervical fracture dislocation often leads to neurological deficits, manifesting with sensory and motor symptoms, which may persist even after surgical intervention. We presented two cases with mild neurological deficits following such injuries. In Case 1, the patient presented with left-hand numbness 1 month after a car accident. Despite this, he exhibited full muscle power in all four limbs. Cervical spine MRI revealed a posterior column tear, facet fracture dislocation and spinal cord indentation at the C5/C6 level. The patient underwent open reduction with anterior and posterior fixation. After surgery, the patient was discharged without neurological deficits. In Case 2, the patient complained of mild right wrist extensor weakness and right shoulder muscle atrophy 2 months after a fall at work. Imaging studies revealed a locked facet at the right C6/C7 level. The patient underwent both anterior and posterior surgical interventions, followed by rehabilitation. By the time of discharge, the patient had regained almost full muscle power in all four limbs.

Nephrotic syndrome is characterised by heavy proteinuria secondary to glomerular injury. It is an uncommon but serious complication of allogeneic haematopoietic stem cell transplant (HSCT), but rarely reported after autologous HSCT. Here, we report the case of a man in his mid-20s who presented with significant peripheral oedema 2 months after autologous HSCT for Hodgkin lymphoma. Investigations demonstrated nephrotic range proteinuria and hypoalbuminaemia. Renal biopsy demonstrated minimal change disease. Initial treatment with glucocorticoids was complicated by toxicity without remission. However, the clinical and biochemical resolution of his nephrotic syndrome promptly followed administration of rituximab. This case highlights nephrotic syndrome as a complication after autologous HSCT and suggests potential effectiveness of rituximab in minimal change disease in the presence of steroid toxicity or other contraindications.

A woman in her 50s presented with redness, eye pain, watering and photophobia of the left eye starting 1 week after she tested positive for COVID-19. She was diagnosed with left eye episcleritis and started on topical steroids. As the steroids were being gradually tapered, she developed a recurrence. The cycle of treatment-tapering-recurrence repeated itself such that nine episodes were noted within a span of 3 years. An exhaustive diagnostic work-up including infective and autoimmune blood tests, rheumatology assessment and COVID-19 conjunctival swabs and tear samples were done, and no underlying conditions or triggers could be identified, attributing 'long COVID' as the likely causative. Long COVID is the continuation or development of new symptoms after the initial COVID-19 infection, with no other explanation. It is estimated to affect nearly 65 million people worldwide, with >200 symptoms, involving different organ systems. The ocular manifestations of long COVID are less well-known.

Myoepithelial carcinoma (MC) is a rare salivary gland malignancy that usually affects people over the age of 50. The incidence is similar in both men and women. MC might develop de novo or within a pre-existing benign myoepithelioma or pleomorphic adenoma. Reports on MC clinical behaviour differ. Here, we present the case of a female patient in her 60s who had surgery for parotid gland MC. Seven years after parotidectomy, a distant metastasis was found in the sixth left rib, and she underwent a metastasectomy. Nine years after the initial surgery, another distant metastasis was detected in the fifth right rib, and a second metastasectomy was performed. Throughout this period, there was no locoregional recurrence of the disease. This case highlights the need for continued research on the clinical behaviour of salivary glands MC and the importance of regular and long follow-up and monitoring for distant metastases.

This case revolves around a mid-childhood boy diagnosed with a chemoresistant chondroblastic osteosarcoma, a rare and aggressive form of bone tumour affecting his left proximal humerus. Histopathological confirmation of chondroblastic osteosarcoma was obtained through core-needle biopsy. Despite initiating cytoreductive neoadjuvant chemotherapy using a vincristine and cyclophosphamide regimen, the tumour exhibited resistance, prompting the decision to proceed with a forequarter amputation. The patient underwent a planned forequarter amputation by an anterior approach that involved careful dissection of soft tissues, especially around vascular and neural structures. The procedure aimed at achieving complete resection of the chemoresistant tumour. Notably, the case underscores the challenges posed by chemoresistance and the need for radical interventions in such complex clinical scenarios.The discussion touches on the rationale behind the treatment decision, the surgical approach and potential implications on the patient's functional status and quality of life post-amputation.

BCR::ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like BCR::ABL1 positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such as CRLF2, ABL1, ABL2, JAK2, PDGFRB and EPOR Cases with CRLF2 rearrangements account for approximately 50% of cases of Philadelphia-like acute lymphoblastic leukaemia (Ph-like ALL), and the frequency of specific genomic lesions varies with ethnicity such that IGH::CRLF2 translocations are more common in Hispanics and Native Americans.We report two cases of BCR::ABL1-like ALL, with significant eosinophilia. A Hispanic man in his early 20s and a Hispanic woman in her 50s presented with leukocytosis and eosinophilia. Bone marrow flow cytometry revealed lymphoblasts expressing CD19, CD10, partial CD20, CD22, CD79a, CD38, CD34, TdT and HLA-DR. Examination of the bone marrow biopsy and aspirate exhibited a hypercellular bone marrow with increased blasts and elevated eosinophils. Fluorescence in situ hybridisation (FISH) demonstrated a cryptic chromosomal rearrangement between the X chromosome and chromosome 14 at breakpoints involving IGH at 14q32 and CRLF2 at Xp22.33, t(X;14)(p22.33; q32).These findings confirmed the diagnosis of BCR::ABL1-like B-ALL with IGH::CRLF2 rearrangement. One patient (man) attained complete remission with induction therapy using the paediatric CALGB 10403 protocol, while the other patient (woman) had a poor outcome after receiving a hyper-fractionated cyclophosphamide, vincristine, doxorubicin and dexamethasone regimen. These two cases demonstrate an unusual presentation of BCR::ABL1-like B-ALL and emphasise the importance of appropriate cytogenetic studies for correct diagnosis. When treated with conventional chemotherapy, these cases carry a poor prognosis and might require allogeneic transplantation.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder marked by the congenital absence of the uterus and vagina. Patients with this condition often present with primary amenorrhoea and normal secondary sexual characteristics. The diagnosis of MRKH syndrome has profound implications for a patient's fertility and psychological well-being, necessitating a multidisciplinary approach that includes psychosocial support. We present a case of a young woman with MRKH syndrome who underwent robot-assisted Davydov's vaginoplasty for neovaginal creation. The procedure used the enhanced precision and visualisation of robotic technology, resulting in the successful formation of a 7 cm neovagina with minimal postoperative complications. The robotic approach to Davydov vaginoplasty, though relatively unexplored in MRKH syndrome, presents several advantages over conventional methods, including greater surgical precision, reduced operative time and quicker recovery. This case highlights the potential benefits of robotic-assisted surgery in MRKH syndrome, offering improved outcomes and contributing to the limited literature on this advanced surgical approach.