BMJ Case Reports

The incidence of sebaceous carcinoma (SC) in the outer one-third of the external auditory canal is considered extremely rare, and only eight case reports have been published. We present a case of a male patient in his late 70s known case of hypertension on indapamide. His medical history included a postspinal tumour that had been treated with surgery and radiation more than 40 years ago and current complaints of right ear pain and purulent discharge. A right ear soft granular tissue mass was found. Complete debulking of the right ear mass was done in conjunction with middle ear exploration, moderately differentiated SC diagnosis was made based on the histopathological analysis...

An ectopic pregnancy (EP) accounts for 1-2% of all pregnancies, of which 90% implant in the fallopian tube. An abdominal ectopic pregnancy (AEP) is defined as an ectopic pregnancy occurring when the gestational sac is implanted in the peritoneal cavity outside the uterine cavity or the fallopian tube. Implantation sites may include the omentum, peritoneum of the pelvic and abdominal cavity, the uterine surface and abdominal organs such as the spleen, intestine, liver and blood vessels. Primary abdominal pregnancy results from fertilisation of the ovum in the abdominal cavity and secondary occurs from an aborted or ruptured tubal pregnancy...

This report presents a case of childhood Gaucher disease type 1, a rare inherited metabolic disorder. Although the clinical symptoms were classical, the histological findings in this case were atypical and initially led to diagnostic uncertainty. The pathognomonic histological finding on bone marrow is Gaucher cells, which are lipid-engorged phagocytes secondary to the accumulation of glucosylceramide. These cells typically demonstrate diffuse and avid iron staining using a Prussian blue iron stain. In this case, although the histiocytes seen on bone marrow were abnormal, the absence of iron staining on bone marrow led to a large range of other diagnoses being considered...

No abstract text is available yet for this article.

Displacement of the globe of the eye into the maxillary sinus is very rare in cases of facial trauma. Herein, we report a case of complete dislocation of the left globe into the maxillary sinus following a road traffic collision. The patient had prompt surgery to replace the globe after CT imaging confirmed the diagnosis. Subsequently, ongoing follow-up has focused on cosmesis in the affected, non-seeing eye. A multidisciplinary approach has been key throughout the patient's journey.

We present a unique case of a fetus with dextrocardia, asplenia and a right bilobed lung in a primigravida woman in her 20s at 21 weeks' gestation. Prenatal ultrasound examination revealed dextrocardia and other anomalies such as atrioventricular septal defect and situs ambiguous with the gallbladder on the left, leading to termination of the pregnancy. Fetal autopsy confirmed the diagnosis, detected additional findings such as asplenia and right bilobed lung missed on ultrasound and highlighted the importance of autopsy in prenatal diagnosis...

No abstract text is available yet for this article.

In the same way that renal transcatheter arterial embolisation (TAE) has demonstrated its effectiveness and safety compared with nephrectomy of the polycystic kidney at the time of transplantation, we propose that TAE can be a minimally invasive option in the surgical preparation for incisional hernia repair in order to reduce the compressive effect of the polycystic kidney, creating space and ensuring safe hernia repair. The objective of this article is to describe the first case in which TAE is used in advance of incisional hernia secondary to renal transplantation in patients with autosomal dominant polycystic kidney disease...

A macro pituitary tumour or giant pituitary tumour is regarded as a rare causal factor in syndrome of inappropriate antidiuretic hormone (SIADH) cases. Previous reports have presented findings showing that blood flow insufficiency related to stress caused by an obstructive mass may lead to inappropriate secretion of arginine vasopressin. On the other hand, prolactin is known to influence water metabolism, and several cases of a macroprolactinoma or giant prolactinoma (PRLoma) in patients with SIADH have been reported...

A male in his 60s developed a pruritic, maculopapular rash on his torso and arms, sparing his palms and soles. He tested positive for ANA and an initial skin biopsy identified "bullous lupus," supporting the diagnosis of a connective tissue disease. Additional symptoms included headaches, facial nerve palsy and hearing loss, which partially responded to oral corticosteroids. He subsequently developed a steroid-dependent left eye scotoma, neuroretinitis and optic nerve papillitis. Mycophenolate mofetil was added but an attempted oral steroid taper led to a worsening rash, progressive retinitis and papillitis...

Congenital colonic stenosis (CCS) is an extremely rare cause of large bowel obstruction in early infancy. Only 35 cases of CCS have been reported in literature to date. CCS often causes a diagnostic quandary as it is difficult to distinguish it clinically from Hirschsprung's disease. We report a case of an infant with CCS who was managed with resection of the diseased colonic segment with critical stenosis at two sites and colo-colonic anastomosis. In our report, we discuss the challenges faced in the diagnosis and surgical management of this unusual case...

No abstract text is available yet for this article.

Investigations in a woman with prolonged symptoms of laxative-resistant constipation and recurrent rectal bleeding revealed a giant rectal vascular malformation. Colonoscopy and MRI were performed to rule out malignancy and determine differential diagnoses. Repeated tests were necessary due to inconclusive results. After a definite diagnosis, image-guided, transcutaneously administered sclerotherapy was used. The intervention and postoperative course were uneventful. A minimally invasive procedure relieved symptoms and improved quality of life...

We report a case of successful endoscopic stone management in a patient with ectopic ureteric insertion. The patient had a complete duplex collecting system, with the upper moiety ureter inserting ectopically into his prostatic urethra, and an obstructing ureteric stone in the distal portion of the ectopic ureter. This made both characterisation of the patient's anatomy and initial emergency stone management challenging.The case offers several learning points for clinicians who may encounter similar situations...

No abstract text is available yet for this article.

This report describes a case of a Caucasian man in his 60s with bilateral sequential orbital inflammatory disease associated with relapsing polychondritis (RPC).He first presented with a subclavian vein periphlebitis/thrombosis and swollen left knee. Two weeks later, he developed right orbital inflammation with restricted eye movements. He was treated initially for possible orbital cellulitis. His inflammation failed to respond to antibiotics but rapidly resolved with oral prednisolone. One year later, he presented with left auricular inflammation, a maculopapular rash on his arms and torso and left orbital inflammation...

We present a case of pulmonary tumour thrombotic microangiopathy (PTTM) in a patient on adjuvant immunotherapy for resected triple negative breast cancer. The patient presented with deranged liver function tests and subsequently developed severe hypoxia and thrombocytopaenia, with right heart failure. The primary differential diagnosis considered was immunotherapy-associated hepatitis and pneumonitis. Despite organ support, the patient deteriorated rapidly and died of respiratory failure. As is often the case with PTTM, the diagnosis was only found at postmortem...

The present case describes the successful healing of a periapical lesion associated with the left maxillary lateral incisor (# 22, Federation Dentaire Internationale) having a type 3b dens invaginatus tooth morphology. The treatment was complicated by the presence of blunderbuss root apex and large periapical lesion (>10 mm) with through and through bone defect (Bucco palatal cortical bone perforation, Von Arx Type 1b). An adolescent boy reported palatal swelling and pus discharge in relation to tooth #22...

Pigmented dermatofibrosarcoma protuberans (DFSP) also known as Bednar tumour is a very rare variant of DFSP which is considered to be of intermediate grade along with the presence of melanin-containing dendritic cells. Only a handful of cases have been described in the literature so far. It is centred around the dermis or subcutis and can pose a diagnostic challenge by being confused with other pigmented lesions of the skin. We hereby report one such unusual case of a man in his late 20s presenting with swelling over the forehead for the past 7 years...

A woman in late adolescence with a history of sickle cell disease, moyamoya disease, cerebrovascular accident, mild intellectual disability, post-traumatic stress disorder, functional seizures, generalised anxiety disorder and transient psychosis was referred for a psychiatry consultation. She presented with worsening episodes of dissociation characterised by compulsory hair-pulling. Limited research exists regarding patients engaging in activities of automated behaviour during episodes of dissociation. Thus, we aim to describe a case of a patient with episodes of hair-pulling during dissociative events to discuss the aetiology and treatment...