Primary amenorrhoea and clitoromegaly in a nulliparous woman: successful medical and surgical management

Clitoromegaly is an important sign of virilisation and poses difficulty in sex determination, when present since birth. The diagnosis and treatment in an adult is a major challenge to the treating gynaecologist. The primary reason for its development is androgen excess due to congenital adrenal hyperplasia, polycystic ovarian syndrome, ovarian virilising tumours, neurofibromas, adrenal neoplasm and prolonged intake of anabolic steroids. A case of young nulliparous married woman who presented with primary amenorrhoea and clitoromegaly and was managed successfully has been reported.

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Giant left breast hamartoma in a 45-year-old woman

This is a case of a woman in her fifth decade of life who presented with a lump in her left breast. The patient underwent extensive breast investigations which did not confirm one particular diagnosis. The lesion was excised, and histological findings confirmed the diagnosis of a giant breast hamartoma. This case is interesting due to the largeness. As well as this, giant breast hamartomas are uncommon, and this case highlights the difficulty in their diagnosis and frequent misdiagnoses, potentially contributing to their reported low incidence rates. Diagnosis is difficult due to the complex appearance of the mass on imaging, raising the possibility of malignancy. Core biopsy is unremarkable, with the final diagnosis only possible on histological examination of the resected mass.

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Hypoxic hepatitis and furosemide

Hypoxic hepatitis is a rather common complication of heart, circulatory or respiratory failure. We present the case of a patient with hypoxic hepatitis in the setting of heart failure and dehydration from furosemide as a reminder of an important clinical lesson. The pathogenesis of hypoxia (especially in the case of heart failure) is explained by a two-hit mechanism in which the liver at risk of hypoxic injury by passive hepatic congestion (right heart failure) is subsequently exposed to systemic hypoperfusion, which leads to a marked and transient elevation of aminotransferases. In the case presented, the use of furosemide (at least partially) promoted the second hit because it helped to generate hypotension and splanchnic hypovolaemia and favoured hepatic hypoxia.

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Red colour venous flow in the suprasternal view: a red flag sign

Description 

A 3-day-old full-term neonate, born by normal vaginal delivery, was presented with respiratory distress and mild cyanosis. His room air saturation in all four limbs was 84%. The clinical examination was unremarkable. Chest X-ray showed cardiomegaly and increased pulmonary vascular markings. Transthoracic echocardiography revealed 8 mm ostium secundum atrial septal defect (ASD) with bidirectional shunt and dilated right atrium and right ventricle with absence of individual pulmonary veins (PV) draining into left atrium (LA). Suprasternal view showed vertical vein (VV) which was recognised as a vessel lateral to LA with red-coloured continuous flow on Doppler (figure 1). The PVs were draining into the venous confluence behind the LA which was draining into the VV. VV connects into the left innominate vein which finally forms the right superior vena cava (figure 1, video 1).

Figure 1

Suprasternal view demonstrating vertical vein....

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Use of long saphenous vein graft in acute on chronic mesenteric ischaemia

Acute mesenteric ischaemia is a relatively rare surgical emergency, but despite advances in diagnostic tests, the mortality of this condition remains stubbornly high (50%–80%). This is principally because of the non-specific nature of the presenting symptoms and subsequent delay in diagnosis. We report an unusual case of acute mesenteric ischaemia treated by emergency laparotomy, small bowel resection and revascularisation using reversed long saphenous vein graft.

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Primary undifferentiated pleomorphic cardiac sarcoma with MDM2 amplification presenting as acute left-sided heart failure

Primary cardiac tumours are a rare clinical entity that can present with myriad of non-specific cardiopulmonary symptoms. We describe a case of a 61-year-old previously healthy woman who presented with progressive dyspnoea and lower extremity swelling, suggestive of acute left-sided heart failure. Transthoracic echocardiogram revealed a large, 3.7x3.2 cm intracardiac mass resulting in severe mitral valvular dysfunction. The patient underwent surgical resection of the mass, however, negative margins were not obtained, and the tumour quickly returned. Histological and molecular analysis was consistent with the diagnosis of undifferentiated pleomorphic sarcoma with murine double minute 2 (MDM2) amplification. Given the overall grim prognosis, the patient chose to pursue comfort-based care. She died at home 9 months after the initial diagnosis. Here, we provide an updated review of the literature for the classification of undifferentiated pleomorphic cardiac sarcoma and potential treatment modalities.

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A delayed diagnosis: recurrent fever and beta thalassaemia

Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.

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Imaging features of toxic megacolon

Description 

A 27-year-old woman presents with vomiting and abdominal pain for 2 days. She had been diagnosed with ulcerative colitis (UC) 2 weeks prior and was started on oral sulfasalazine and prednisolone. Currently, she is afebrile and not tachycardic. On examination, the abdomen was distended and tender centrally. Serial abdominal radiographs showed persistently dilated transverse colon with loss of haustra (figure 1). CT abdomen revealed diffuse bowel thickening involving the ascending colon, caecum and terminal ileum with multiple pseudopolyps at the ascending colon (figure 2). The transverse colon is dilated up to 6.8 cm (figure 3). There are also multiple enlarged right-sided mesenteric nodes. A diagnosis of toxic megacolon (TM) was made. She deteriorated during admission due to acute pulmonary embolism. Blood investigations showed marked leucocytosis (32x10⁹/L) and raised C-reactive proteins (98.7 mg/L). Subtotal colectomy involving the caecum until splenic flexure was performed followed by ileostomy and mucous...

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Modified laparoscopic Janeway gastrostomy: a novel adjunct for the management of choledocholithiasis in Roux-en-Y patients

A 76-year-old woman with surgical history of Roux-en-Y gastric bypass presented with recurrent choledocholithiasis. Double balloon enteroscopy was unsuccessful in cannulating the biliary tree, thus, requiring surgically assisted endoscopic retrograde cholangiopancreaticogram (ERCP) access. Due to her stable clinical status, the non-urgent indication and multiple anticipated ERCPs for definitive biliary clearance, a more durable port of access to the ampulla was desired. A modified laparoscopic Janeway gastrostomy of the gastric remnant was performed and served as access for multiple subsequent endoscopic procedures with successful clearance of the biliary tree.

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DRESS syndrome due to vemurafenib treatment: switching BRAF inhibitor to solve a big problem

We present a case report of an early-onset drug reaction with eosinophilia and systemic symptoms (DRESS syndrome) induced by vemurafenib (BRAF inhibitor) in a middle-age man affected by a metastatic, BRAF mutant melanoma who was started on first-line metastatic treatment with vemurafenib and cobimetinib.

After initiating the treatment, the patient presented an extensive cutaneous rash with eosinophilia and renal impairment. Due the constellation of signs and symptoms, a diagnosis of DRESS syndrome was made which strongly contraindicated the reintroduction of vemurafenib due to its hypersensibility reaction. Thus, vemurafenib was stopped immediately, and we started corticoid treatment with clinical improvement.

Due to the contraindication to start vemurafenib again, after multidisciplinary view of the case and having balanced the risks and benefits, we successfully performed a switch to another BRAF inhibitor in a progressively ascending pattern, without any skin toxicity and with a good response of the metastatic melanoma.

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Duplicated middle cerebral artery associated with aneurysm at M1/M2 bifurcation: a case report

A duplicated middle cerebral artery arises from the internal carotid artery and supplies blood to the middle cerebral artery territory. A duplicated middle cerebral artery is sometimes associated with an intra...

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