BMJ Case Reports最新文献

Patients with oral cancer are more susceptible to emotional and psychological consequences immediately after diagnosis and treatment phase, which may cause depressive disorders. The WHO defines depression as a disorder that lasts at least 2 weeks and is characterised by a person's protracted unhappiness and loss of interest in activities. Patients psychological responses vary widely according to fears of recurrence, coping mechanisms, health beliefs and available financial support. Individual planning of the treatment and different ways of approach are necessary to beat the psychological fear in patients. Here, we present a case study of a male patient who developed psychological distress following his diagnosis of oral squamous cell carcinoma arising from areca nut-induced oral fibrosis. This case highlights the significance of early identification, focused therapies and psychological screening as a means of successfully resolving their psychological issues and ultimately enhancing the quality of oncology intervention.

A man in his late 20s presented with a 7 day history of painless right scrotal swelling. Scrotal ultrasound revealed complete tumour infiltration of the right testis and two-thirds infiltration of the left testis. A right radical orchidectomy and left testicular biopsy confirmed B-lymphoblastic leukaemia/lymphoma. Subsequent bone marrow and peripheral blood tests showed no systemic involvement. Persistent left testicular disease was found following induction chemotherapy, and orchidectomy of the contralateral testis was subsequently conducted. This case highlights the unique nature of bilateral testicular involvement of B-lymphoblastic lymphoma in an adult and provides further data on the management of this rare disease.

Adrenal incidentalomas, mostly adrenal adenomas, affect 3%-10% of the global population. Adrenocortical carcinoma (ACC) is rare, with an incidence of 0.7-2 cases per million. Adrenocortical oncocytic neoplasms (ACONs) account for about 10% of ACC cases, often discovered incidentally, with 17-34% being functionally active.We report a case of a woman in her 60s with treatment-resistant hypertension, diabetes and psychotic delirium. Imaging revealed a 6 cm left adrenal mass with marginally elevated metanephrines. Laparoscopic adrenalectomy was performed. Histology confirmed ACON. Positive margins necessitated adjuvant chemotherapy and radiotherapy. Postoperatively, psychiatric symptoms and hypertension resolved, indicating the tumour's secretory nature.This case highlights the diverse ACONs hormonal secretions, leading to complex clinical presentations, including metabolic and psychiatric symptoms. ACONs secretory nature may not be reflected in standard hormonal panels.ACONs challenging diagnosis and management emphasise the need for a multidisciplinary approach and further research.

Acquired fat replacement of the pancreatic body and tail is a rare condition that differs from congenital agenesis. A female patient in her 50s presented with a multilocular serous cystic neoplasm located in the pancreatic head extending into the body, accompanied by fat replacement in the pancreatic body and tail. The patient underwent pancreaticoduodenectomy (PD) without remnant pancreatic reconstruction, as the pancreatic duct could not be identified. Postoperatively, no complications occurred, including pancreatic fistula, and endocrine function remained intact, with no diabetes treatment required at the 1-year follow-up. Histopathology confirmed the diagnosis of serous cystadenoma with preserved Langerhans islets within the fat-replaced pancreatic tissue. This case emphasises the potential of preserving endocrine function and preventing complications through PD without reconstruction in cases involving extensive fat replacement.

Congenital erythropoietic porphyria (CEP) also known as Gunther's disease is a subtype of porphyria. It is an autosomal recessive disorder caused by a mutation in the uroporphyrinogen III gene (URO III) coding for the enzyme UROS synthase, an essential enzyme in the heme synthesis pathway. The condition may present as non-immune hydrops in foetuses, dark-red urine-stained diapers in neonates and skin blistering and mutilation in sun-exposed areas in older children. Enzyme assays and genetic studies are costly and not easily available in low-resource settings; therefore, awareness of the typical phenotype of this rare porphyria is crucial. However, due to the scarcity of reported cases, clinicians remain oblivious to the disease, leading to delays in diagnosis and initiation of treatment, thus contributing to long-term disabilities. We report a case of a male child in early adolescence presenting with classical cutaneous, skeletal and haematological features of CEP.

We report the case of a teenage male who had a slip and fall from a motorcycle and sustained injury to his left knee. A clinicoradiological evaluation revealed a closed displaced osteochondral fragment of the posterolateral tibial plateau. The patient underwent open reduction and internal fixation with two cannulated headless screws. The patient recovered uneventfully on follow-up. The Hoffa-like displaced posterolateral tibial plateau fracture with no associated ligament damage is a rare injury. Further, there are very few reported cases on the surgical approach and fixation techniques in this pattern of injury.

Although Graves' disease is a prevalent endocrine disorder, it is rare in prepubertal patients. Here, we describe the case of a middle childhood boy diagnosed with Graves' disease. The patient experienced exophthalmos, hyperactivity and overgrowth. Endocrinological tests revealed positivity for hyperthyroidism and thyrotropin receptor antibodies. Ultrasonography revealed an enlarged thyroid gland with increased blood flow. The onset of symptoms was estimated to have occurred around the age of 4 years based on the growth chart and past facial photographs. We speculate that it took more than 2 years from onset to diagnosis in this patient. The symptoms of Graves' disease in childhood, such as hyperactivity or overgrowth, may be overlooked as problems with developmental characteristics or growth effects. Although Graves' disease is rare in this age group, it should be considered in the differential diagnosis.

In this report, we discuss two children with progressive cutaneous ossification and review its aetiology and associations. Osteoma cutis (OC) is a cutaneous disease associated with ossification in the dermis or subcutaneous tissue, classified as either primary or secondary. Primary OC is rare. Although it can occur de novo, it has significant genetic and metabolic associations that must be excluded and warrants a thorough clinical workup. Secondary OC arises in response to inflammation, neoplasia or trauma and may have aesthetic concerns.