Kartagener Syndrome.


 

A 43-year-old man presented with cough and expectoration for 7 days. Since birth he had had recurrent episodes of respiratory tract infections, for which he used to take drugs from his family doctor. He was married for 15 years but had borne no children. On examination, apex beat was in the sixth right intercostal space with heart sounds being heard on the right side of the chest. Electrocardiogram showed evidence of dextrocardia . Cardiac apex, along with aortic arch and gastric bubble on chest radiograph were seen on the right side . High-resolution CT of chest and upper abdomen showed bronchiectasis with situs inversus totalis . Radiograph and CT of sinuses showed mucosal thickening in maxillary sinuses and hypoplastic frontal sinuses. Fibreoptic bronchoscopy showed transposition of right and left bronchus. Semen analysis (done thrice) showed decreased sperm viability with no motility. Saccharin test for mucociliary clearance gave a time of 48 min (normal <15 min).

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A diagnosis of Kartagener’s syndrome was made. Kartagener’s syndrome is characterised by the triad of chronic sinusitis, bronchiectasis, and situs inversus. It is classified under the group of disorders called primary ciliary dyskinesias. Patients generally present with recurrent upper and lower respiratory tract infection because of ineffective mucociliary clearance. As sperm mortility is dependent on ciliary function, males are generally sterile.

Source: Lancet

Sturge-Weber angiomatosis.


A 20-year-old woman presented with a 1-month history of swollen gums.

Her medical history included seizures for the past 19 years and a macular patch on the right side of her face since birth. She was taking phenytoin for her seizures. Intraoral examination showed extension of the macular patch on the right side of the oral cavity and generalised gingival enlargement.

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On the basis of her history and clinical presentation she was diagnosed with Sturge-Weber angiomatosis and drug-induced gingival enlargement. Extraoral skull radiographs showed tramline calcification because of angiomas affecting the leptomeninges. The patient was given meticulous oral treatment and her antiepileptic medication was changed. The angiomas present in our patient are malformations of blood vessels in the pia mater causing the calcification and loss of nerve cells in the cerebral cortex. These sequelae of the malformations give rise to the clinical symptom of seizures and radiological sign of tramline calcification.

Source: Lancet

 

Chilaiditi’s sign.


A 79-year-old man presented with symptoms and signs of upper respiratory tract infection; he had a history of permanent pacemaker implantation. An upright postero-anterior chest radiograph showed a raised right hemidiaphragm delineated by subdiaphragmatic air. Unlike free air, which forms an uninterrupted crescent-shaped subdiaphragmatic radiolucency, this radiograph showed a haustral pattern of subdiaphragmatic lucency, overlapping the upper border of the liver shadow. On examination, clinical findings suggesting acute abdomen from rupture of a hollow viscus were absent and there was no recent history of abdominal surgery to account for the presence of subdiaphragmatic air.

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The visualisation of a gas filled transverse colon lumen interpositioned between the right hemidiaphragm and the liver on a chest film is called Chilaiditi’s sign. A CT scan may confirm these anatomical relations. In our patient’s radiograph, the haustral pattern of air was indicative of colonic origin, and the continuity of the subdiaphragmatic air was broken up by the shadow of the vertical plicae semilunares of the colon. Chilaiditi’s sign was first described in 1910 by Demetrious Chilaiditi and it is an incidental radiographic finding. This sign can be mistaken for pneumoperitoneum and can lead to needless surgical intervention. Our patient was treated only for his upper respiratory tract infection.

Source: Lancet

Striking cysts: recurrent haematuria in a kickboxer.


A 42-year-old man presented with recurrence of haematuria after extensive body-building exercises.

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He had a history of renal failure due to polycystic kidney disease, complicated by recurrent bleeding, particularly after kickboxing or body-building exercises. Ultrasonography  and abdominal CT scan without contrast  showed widespread polycystic kidney and liver disease. However, the source of bleeding could not be identified. MRI (T2-weighted, half-Fourier acquired single-shot turbo spin echo) showed multiple cysts with decreased signal density , suggestive of recent bleeding; this was further confirmed by distinct fluid levels in some of the cysts. Cyst bleeding is a common complication of polycystic kidney disease, occurring in 30—50% of cases. Our case shows that trauma can be a causative factor. MRI can elegantly reveal the exact location of cysts in which recent bleeding has occurred.

Source: Lancet

The calcified abdominal cocoon.


A 45-year-old man with end-stage renal failure secondary to Alport syndrome, who had received maintenance peritoneal dialysis for 19 years, presented with abdominal pain and haemodynamic instability.

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His abdomen was tender and 500 mL of fresh blood was drained from the peritoneal dialysis catheter. Following resuscitation, an abdominal CT scan showed thickened bowel wall and extraordinary calcification of abdominal viscera .At laparotomy, exploration of the abdomen was precluded by severe calcification of the abdominal wall and bowel loops . Blood was arising from the pelvis, which was subsequently packed with gauze, arresting the haemorrhage. The packs were removed after 72 h and the patient was transferred to haemodialysis. He was discharged home on day 36. The radiographic and intraoperative appearances were typical of advanced, sclerosing, encapsulating peritonitis,1 or so-called abdominal cocoon, a well recognised complication of long-term peritoneal dialysis, with ectopic calcification secondary to tertiary hyperparathyroidism. Sclerosing encapsulating peritonitis is one of the most serious complications of peritoneal dialysis and is associated with a high mortality rate, even if peritoneal dialysis is discontinued. Patients usually present with symptoms of bowel obstruction. Unfortunately, there is no reliable therapy, although tamoxifen and surgery are used.

Source: Lancet

Epiploic appendagitis.


A 46-year-old man presented with left lower quadrant pain, tenderness, and rebound tenderness on examination. He was afebrile and did not have leucocytosis. The abdominal CT showed a hypodense pericolonic oval mass of 2·5 cm with adjacent fat stranding: a classic picture of epiploic appendagitis

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Epiploic appendages are roughly 50—100 pedunculated adipose structures protruding from the serosal surface of the colon from the caecum to the rectosigmoid junction. Torsion of the pedicle or central venous thrombosis could cause epiploic appendagitis, which can simulate diverticulitis, appendicitis, and cholecystitis. Fever, chills, and leucocytosis are usually absent. In addition to the CT indicating this diagnosis, a non-compressible hyperechoic mass connected to the adjacent colon at the point of maximum tenderness on ultrasonography is indicative of epiploic appendages. Epiploic appendagitis needs only conservative management and pain control; however, failure to recognise this diagnosis could lead to unnecessary intervention.

Source: Lancet

Emphysematous cystitis.


A 55-year-old man with a history of aortic valve replacement was admitted because of pelvic pain. He had been treated with antibiotics over the past 4 weeks for a presumed lower urinary tract infection with fever. Treatment had been unsuccessful. Both urine and blood cultures grew Enterobacter cloacae. Abdominal radiography showed a thin line of air within the bladder wall, outlining its perimeter .A bacteraemic emphysematous cystitis complicated by prosthetic valve endocarditis was diagnosed, and effective antibiotic treatment was initiated.

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Emphysematous cystitis is a potentially life-threatening condition caused by gas-producing pathogens. This rare form of urinary tract infection typically occurs in middle-aged diabetic women. Contrary to radiological findings, clinical features are non-specific (irritative bladder symptoms, pyuria, haematuria, and, rarely, pneumaturia). Plain abdominal radiography, as well as ultrasonography, may lead to the diagnosis but CT scan is regarded as the procedure of choice, particularly to rule out a vesicocolic fistula. Early diagnosis and management consists of antibiotic therapy, bladder drainage, and sometimes surgery.

Source: Lancet

El corazón espinado.


A 48-year-old man was referred to our institution because of shortness of breath and symptoms related to right ventricular dysfunction.

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His medical history included tuberculosis as a child. Chest radiography showed a calcific ring located at the heart base. Transthoracic echocardiography showed signs of cardiac tamponade. High resolution CT scan showed the calcific ring at the cardiac base reproducing “el corazón espinado” (the sacred heart wrapped in thorns), with incomplete compression at the level of the inferior vena cava. The patient underwent successful pericardectomy (removal of the pericardium). Despite repeated attempts, the diaphragmatic layer of the calcified pericardium was not removed, because of deep penetration of the calcification inside the myocardium of the inferior right and left ventricles. Histology confirmed the tuberculous cause. Chronic calcific pericarditis is an uncommon form of pericardial inflammation. The cause is idiopathic in most cases; tuberculosis is the second most common cause of this syndrome. Pericardial calcifications occur in nearly half the people affected by chronic pericarditis and are often indicative of infective origin. Early pericardiectomy is strongly encouraged in patients suspected of having tuberculous pericarditis with massive calcification, before signs of cardiac tamponade occur.

 

Source: Lancet

Gastrobronchial fistula.


A 67-year-old man presented with left anterior chest pain of sudden onset. On admission, chest radiography showed left lower lobe infiltrates.

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8 days later, chest radiography showed a cavitating lesion, consistent with a pulmonary abscess. CT of the chest revealed a pulmonary abscess in the left lower lobe. Suspecting an oesophagobronchial fistula, we did a barium contrast study, which showed a passage from the gastric fundus to the pulmonary abscess (figure). Oesophagogastroduodenoscopy confirmed the presence of a fistula in the gastric fundus; gastric contents were seen to enter the fistula. The fistula, and the left lower lobe to which it was adherent, were surgically resected, and the diaphragm was repaired. The patient’s recovery was uneventful.

Source: Lancet

Hydatid pericardial tamponade: a grape soup.


A 35-year-old Libyan woman was referred to us from another institution with the diagnosis of massive pericardial effusion and pericardial tamponade.

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On admission to us, she was hypotensive, tachycardic and tachypnoeic. Electrocardiography showed unspecific low QRS voltage and ST-T segment flattening. Chest x-ray showed cardiomegaly. We did an emergency pericardial aspiration which yielded 1500 ml of yellow coloured fluid. A transthoracic echocardiogrm showed multiple cystic formations approximately 1·5—2 cm within the pericardial cavity), and confirmed the need for surgery. We did a standard median sternotomy and thoroughly irrigated the pericardium with hypertonic saline; multiple cysts were removed from the pericardium (figures B and C). Our patient was diagnosed with a ruptured intrapericardial hydatid cyst and pericardial tamponade. We established the diagnosis based on the gross appearance of the removed cysts, the echocardiogram results, and a high ESR. Hydatid disease is endemic in Libya, a southern Mediterranean country. Serological tests were not available. After surgery she was treated with oral albendazole for 12 days. She recovered well and was discharged 12 days after surgery. Pericardial tamponade due to hydatid disease is a rare condition that has been seldom reported in the literature.

Source: Lancet