Characteristic Radiological Signs Research Articles

Wilson’s disease: A case report with review of literature

Wilson’s disease is a rare inborn error of metabolism characterized by abnormal deposition of copper in various tissues caused by the inability to excrete copper into the bile. Wilson’s disease is also known as hepatolenticular degeneration because liver and lentiform nuclei in the brain are the most commonly involved areas. Cerebral involvement in Wilson’s disease results in typical characteristic radiological signs on magnetic resonance imaging (MRI). Here, we report the case of a 27-year-old female who presented with neurologic manifestations and diagnosed as Wilson’s disease with typical MRI findings.

A Rare Cause of Acute Abdomen: Mesenteric Cyst Torsion

Mesenteric cysts are seen rarely and most of them are seen in the childhood period. The lack of characteristic clinical features and radiological signs may present great diagnostic difficulties. The cyst may present with diffuse abdominal swelling, abdominal pain or abdominal mass. Malignant cysts occur in less than 2% cases. Surgery is the treatment of choice.

Sole metastatic pulmonary nodules from breast cancer simulating primary lung adenocarcinoma: Two case reports

The characteristic radiological signs of primary lung adenocarcinoma include notching, lobulation, spicular formation, pleural indentation and a bronchus leading to the nodule (bronchus sign). However, metastatic tumors rarely display such characteristics. We herein present two cases of breast cancer with sole metastatic pulmonary tumors recurring ~20 years after surgery for breast cancer. These patients exhibited radiographic signs specific to primary lung adenocarcinoma. Pulmonary metastatic nodular lesions occur through hematogenous spread; therefore, obtaining pathological specimens by transbronchial biopsy may be challenging. In our patients, however, obtaining pathological specimens by transbronchial biopsy was feasible and it ultimately confirmed the diagnosis of lung metastasis from previously treated breast cancer. To the best of our knowledge, no similar cases are reported in the English medical literature. Therefore, metastatic breast cancer may exhibit the characteristic radiological signs of pulmonary lung adenocarcinoma and, although rare, pulmonary metastasis from breast cancer should be considered even in the presence of irregularly shaped pulmonary nodule(s) following long-term disease-free survival.

Magnetic resonance imaging of hypertrophic olivary degeneration

ObjectiveTo review the pathophysiologic mechanisms involved in hypertrophic olivary degeneration, with attention to epidemiological and clinical aspects and especially to imaging findings. Material and methodsWe reviewed 5 patients diagnosed with hypertrophic olivary degeneration at our center from 2010 through 2013, analyzing relevant clinical, epidemiological, and radiological findings. ResultsIn all cases, a hyperintensity was seen in the inferior olivary nuclei in FLAIR and T2-weighted sequences. No signal alterations were seen on T1-weighted sequences, and no enhancement was seen after intravenous injection of contrast material. In the cases studied by diffusion-weighted imaging, no significant alterations were seen in these sequences. Olivary hypertrophy was seen in all patients except in one, in whom presumably not enough time had elapsed for hypertrophy to occur. The alterations were bilateral in two of the five cases. Only one case exhibited the typical clinical manifestations. ConclusionGiven that patients may not present clinical manifestations that can be attributed to hypertrophic olivary degeneration, it is important to recognize the characteristic radiologic signs of this entity.

Milk of calcium stones: radiological signs and management outcome.

Milk of calcium (MOC) is a rare type of stone that was first described in 1940 by Ludin and Howald who reported MOC in renal cysts. Milk of calcium is a viscous colloidal suspension of calcium salts. Stasis, obstruction and infection are important predisposing factors. Due to a layering effect, characteristic radiological signs especially in CT can help in diagnosis to avoid unsuccessful shock wave lithotripsy. This is the largest reported case series, in which radiological signs by CT scan to predict renal MOC stones, clinical picture and management outcome are described in detail. Cases with suspected renal milk of calcium stones were studied over 7 years (2008-2015). All cases were diagnosed preoperatively by non-contrast CT. Urine cultures were performed in all patients preoperatively. Intra-operative and postoperative findings were reported. Stones retrieved were sent for chemical analysis using an infrared method. Seven cases of milk of calcium renal stones were included in this study. These stones were faint radio-opaque in two cases and radiolucent in five cases. All cases were diagnosed preoperatively with non-contrast CT. Their Hounsfield units (HU) ranged from 114 to 612. All stones were located in a dependent position (gravitational effect) in the posterior aspect of dilated calyces. Five cases exhibited the typical fluid level and two cases demonstrated semilunar (half moon) pattern in the anterior surface of the stones. All cases underwent PCNL with suction and retrieval of soft stones without the need for disintegration. When stones demonstrate a low Hounsfield unit, are arranged in dependent positions within dilated calyces and exhibit fluid level or semilunar pattern on non-contrast CT, milk of calcium stones should be considered. PCNL is an effective modality for management of renal milk of calcium stones.

Imagen por resonancia magnética en la degeneración olivar hipertrófica

ObjectiveTo review the pathophysiologic mechanisms involved in hypertrophic olivary degeneration, with attention to epidemiologic and clinical aspects and especially to imaging findings. Material and methodsWe reviewed 5 patients diagnosed with hypertrophic olivary degeneration at our center from 2010 through 2013, analyzing relevant clinical, epidemiologic, and radiologic findings. ResultsIn all cases, a hyperintensity was seen in the inferior olivary nuclei in FLAIR and T2-weighted sequences. No signal alterations were seen on T1-weighted sequences, and no enhancement was seen after intravenous injection of contrast material. In the cases studied by diffusion-weighted imaging, no significant alterations were seen in these sequences. Olivary hypertrophy was seen in all patients except in one, in whom presumably not enough time had elapsed for hypertrophy to occur. The alterations were bilateral in two of the five cases. Only one case exhibited the typical clinical manifestations. ConclusionGiven that patients may not present clinical manifestations that can be attributed to hypertrophic olivary degeneration, it is important to recognize the characteristic radiologic signs of this entity.

Silent Sinus Syndrome: A Retrospective Review of 11 Cases

Objective: The purpose of this study is to describe the clinical and radiological features of SSS, and to review therapeutic possibilities and their outcomes. Patients and Methods: Retrospective observational case series in the department of Arthur Vernes Institute between Mars 2007 and Novembre 2012. Clinical records, including ophthalmology and otolaryngology evaluations as well as computed tomography scans and operative reports, were carefully examined. A literature review for relevant studies was performed to examine similar cases. Results: Eleven cases of SSS were identified. Nine men and two women (sex ratio 4.5), aged between 23 and 54 years (mean, 30 years). there was 3 to 4 mm enophthalmos in 10 cases (90.9%), and hypoglobus in all cases, with no effect on visual function. In all 11 cases, the maxillary roof (orbital floor) was drawn downwards, and the one or more walls of the maxilla were concave. In 4 cases septal deviation was present. 8 patients (72.7%) underwent endoscopic sinus surgery, while 3 refused it. Septoplasty was performed in 4 cases (36.3%). Conclusion: The silent sinus syndrome is a rare entity. It mainly presents as unilateral enophthalmos in younger people and has very characteristic clinical and radiologic signs. This case series reports our diagnostic and therapeutic experience with this syndrome

The most characteristic lesions and radiologic signs of Crohn disease of the small bowel: air enteroclysis, MDCT, endoscopy, and pathology

This pictorial essay describes the most characteristic lesions and radiologic signs of Crohn disease of the small bowel: nodular lymphoid hyperplasia, abnormal mucosal folds, villous pattern, aphthous ulcerations, linear ulcerations, cobblestone pattern, string sign, target sign, comb sign, creeping fat, sinus tracts, fistulas, and abscesses. Each description includes the definition, a correlation with the pathologic findings, an explanation of the possible physiopathologic mechanism, sample radiologic images with air enteroclysis or MDCT, the correspondence with the endoscopic findings when possible, and a list of differential diagnoses.

Necrotizing Enterocolitis After Open Cardiac Surgery for Congenital Heart Defects – A Serious Threat

Neonates with congenital heart disease are at risk to develop necrotizing enterocolitis (NEC). Especially in the postoperative period after correction of a congenital heart defect this intestinal inflammatory disease can be a potentially life-threatening complication. The purpose of this case series is to define the specific features of NEC in the postoperative situation, with emphasis on diagnostic difficulties.Medical records of neonates developing severe NEC in the postoperative period after surgical correction of a congenital heart defect from 2008 to 2011 were reviewed and compared.7 neonates with NEC after surgical correction of a congenital heart defect were identified. In all 7 patients typical radiologic findings of NEC were missing. Diagnosis was late in all 7 cases; 5 patients already had intestinal perforation. In 3 patients NEC successfully managed before surgical correction of the congenital heart defect dramatically relapsed in the postoperative period. 2 patients showed intestinal mucormycosis, an entity not clearly differentiated from NEC. Due to progressed disease at diagnosis all patients required extensive surgical procedures; 2 of them subsequently died.In the postoperative situation after surgical correction of a congenital heart defect diagnosis of NEC might be challenging. The general condition of these children complicates clinical examination and characteristic radiologic signs are absent. Late diagnosis and exclusive pathogens cause high morbidity and mortality.

Mucopyocele of the Concha Bullosa Presenting as a Large Nasal Mass

Concha bullosa that is a pneumatization of the middle turbinate is a common anatomic variant; the obstruction of its ostium may lead to mucocele and even pyocele after infection of retained secretion. Although the condition is rare, mucopyocele of concha bullosa may be presented as a large nasal mass. However, the diagnosis could be suspected from its characteristic radiologic signs. We present an adolescent boy with mucopyocele of the concha bullosa.

La tuberculose intestinale : à propos de 11 observations

IntroductionIn recent years, the incidence of intestinal tuberculosis has been increasing. This is, in part, due to the pandemic of HIV. Intestinal tuberculosis can be difficult to diagnose and needs a high index of suspicion. The aim of our study is to describe epidemiological, clinical and therapeutic aspects of intestinal tuberculosis in Tunisian adults.Material and methodsRetrospective study of all intestinal tuberculosis recorded from January 1996 to December 2007 in gastroenterology B department of Rabta Hospital in Tunis.ResultsEleven patients were included: five males and six females. Mean age was 35. Clinical manifestations were dominated by abdominal pain. Biologic signs of inflammation were constant. The intradermal tuberculin reaction was positive in 27% of the cases. Mycobacterium tuberculosiswas identified in sputum or urine in two patients. HIV serology was negative in all cases. Lesions were more frequently localized in the ileo-caecal area (36%). Ulcerations were present in 72% of the cases. In histology reports, a granuloma with caseating necrosis was present in three cases (27%). M. tuberculosis was isolated on ileo-colonic biopsies in three patients (27%). Morphologic studies showed ileo-caecal valve or ileal stenosis in six patients (54.5%). Extraintestinal tuberculosis was associated in 45% of the cases. Antituberculous therapy was given in seven patients for a mean duration of nine months (four patients were lost). Clinical and endoscopic outcome was favourable in 86% of the cases.ConclusionAlthough Tunisia is a high endemic country for tuberculosis, intestinal tuberculosis is rare. However, it should be suspected mainly in patient having history of tuberculosis or in case of characteristic clinical or radiological signs.

Methadone Overdose, Auto-Activation Deficit, and Catatonia

Methadone Overdose, Auto-Activation Deficit, and Catatonia

Anterior femoro-acetabular impingement. Radiological signs in young patients diagnosed with hip osteoarthritis

To determine the incidence of the characteristic radiological signs of anterior femoro-acetabular impingement (AFAI) in young patients diagnosed with idiopathic hip osteoarthritis. Retrospective review of the clinical records of patients under 50 years of age diagnosed with idiopathic hip osteoarthritis between 1995 and 2000. The functional assessment of the hip was made by means of the Merle D’Aubigne scale. The radiological study that revealed the presence of the figure-of-8 sign and the head/neck bump sign. The hip joint was evaluated by means of Tönnis’ scale. Fifty-one (43%) of the 121 patients under 50 were diagnosed with idiopathic hip osteoarthritis. We reviewed 45 hips. The mean age in this group was 44.5 years (range: 30-50). The mean value obtained on the Merle d’Aubinge scale was 16 (range: 12-17). In 10 hips (22%) the figure-of- 8 sign was observed, in 26 (58%) the head/neck bump sign was observed. Both signs were observed in 6 cases (13%). Thirty hips (66%) presented with at least one of these radiological signs. In 18 hips (60%) lytic images were seen in the proximal femur. Seventy percent of patients that had at least one of the characteristic signs of FAI were grade I on the Tonnis classification; the remaining 30% were grade II. In our series, 66% of patients diagnosed with idiopathic hip osteoarthritis presented, at the time when the diagnosis was made, radiological signs characteristic of AFAI. Also, AFAI could be construed as the cause for the primary hip osteoarthritis in some of the patients. Determinar la incidencia de los signos radiológicos característicos del atrapamiento fémoro-acetabular anterior (AFA) en pacientes jóvenes diagnosticados de coxartrosis idiopática. Revisión retrospectiva de historias clínicas de los pacientes menores de 50 años diagnosticados de coxartrosis idiopática entre los años 1995 y 2000. Evaluación funcional de la cadera con la escala de Merle D’Aubigne. Estudio radiológico, donde se observa la presencia del signo del lazo y el signo de la giba, así como la valoración de la articulación coxofemoral con la escala de Tönnis. Cincuenta y uno (43%) de los 121 pacientes menores de 50 años fueron diagnosticados de coxartrosis idiopática. Revisamos 45 caderas, con una edad media del grupo de 44,5 años (30-50). El promedio de los valores obtenidos en la escala de Merle d’Aubinge fue de 16 (12-17). En 10 caderas (22%) se observó el signo del lazo, en 26 (58%) se evidenció el signo de la giba, y en seis casos ambos signos (13%). En 30 caderas (66%) se observaron algunos de estos signos radiológicos. En 18 (60%) caderas se apreciaron imágenes líticas en el fémur proximal. El 70% de los pacientes en los que se observó alguno de los signos característicos del AFA presentaba un grado I en la clasificación de Tönnis, el 30% restante presentó un grado II. En nuestra serie un 66% de los pacientes diagnosticados de coxartrosis idiopática presentaban, en el momento del diagnóstico, signos radiológicos característicos de AFA. Algunos de los pacientes diagnosticados de coxartrosis primaria podrían corresponder a un AFA como causa inicial de su coxartrosis.

Complicaciones graves de tipo mecánico asociadas al catéter de arteria pulmonar en cirugía cardiovascular y torácica

Although the use of pulmonary artery catheters (PACs) in managing critical patients is a subject of debate, they continue to be inserted in many cases and possible complications should be taken into account. Our objective was to review the serious or potentially serious complications associated with PACs in our hospital in the past 15 years. This was a retrospective study of seious mechanical complications of PAC use in patients who underwent vascular, cardiac, and thoracic surgery. The study included the records 7540 patients; 9 cases of serious complications were detected. These complications included 5 cases of pulmonary artery rupture (3 of which resulted in death), 1 perforated internal mammary vein, 1 knotted catheter, 1 bent one, and 1 case of a PAC becoming trapped in the surgical suture. The 0.12% incidence of complications is lower than rates found in the literature. Although these complications are rare, it is necessary to take precautions against their unexcepted appearance by carefully selecting the patients in whom PACs are placed and by paying special attention to the characteristic clinical and radiological signs of complications.

Surgical treatment of chronic pancreatic cholangiopathy.

In a consecutive surgical series of 70 patients with chronic calcifying pancreatitis, 18 presented with fixed stenosis of the terminal common bile duct. Nine patients presented with jaundice and two had a palpable gallbladder. The most relevant laboratory datum in the series was a persistently high serum alkaline phosphatase level. Long tapering of the terminal common bile duct was the characteristic radiological sign in 45 of our patients. In five of the 18 cases compression of the terminal bile duct was due to cephalic pseudocysts. Hepaticojejunostomy-en-Y was the type of drainage chosen in 16 cases, and an end-to-side technique was used in 15 patients. Side-to-side choledochoduodenostomy was performed in two cases. In 14 patients, biliary drainage was associated with other surgical procedures on the pancreatic parenchyma. No postoperative complications due to the biliary drainage occurred in this series.

Neuromuscular quadriceps dysfunction prior to osteoarthritis of the knee

Decreased maximal quadriceps strength and voluntary activation has been observed in patients with osteoarthritis in previous studies, but those results do not allow any conclusions to be drawn as to whether quadriceps dysfunction precedes or follows osteoarthritis. Thirty-two patients (group a) who underwent partial meniscectomy 48 ± 9 month prior to the study were matched according to their weight and body mass index with a control group (group b). The twitch interpolation technique was used to determine maximal voluntary contraction (MVC) and voluntary activation (VA) of the quadriceps muscle of both legs. Subjective assessment of the knee was performed using the Lysholm-Score. AP and lateral X-rays of the operated knee were obtained. None of the participants showed any evidence of characteristic radiological or clinical signs for osteoarthritis. A significantly lower MVC was noticed in both the affected and the contralateral knee of group a in comparison to group b ( p<0.01). The VA in group a yielded 80.9 ± 15.4% for the injured side and 83.1 ± 11.5% for the contralateral side, with no statistical difference ( p=0.18). The VA in group b was 89.4 ± 5.8% for the right side and 88 ± 6.8% for the left side both being significantly higher in comparison to group a. This study has shown, that patients following meniscus resection present with bilateral quadriceps weakness as already described in patients with manifest osteoarthritis. The authors hypothesise that muscle dysfunction may be an etiologic factor underlying the pathologic changes of osteoarthritis. Whether muscle dysfunction occurs also at other sites, e.g. in the upper extremity, remains unclear but would be of interest in order to detect a generalized neuromuscular dysfunction.

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.

SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some individuals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis. Around 80% of SHOX mutations are complete gene deletions, whereas diverse point mutations account for the rest. The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children. We recruited 140 children (61 girls), in our clinic, with idiopathic short stature, which was defined by the presence of normal IGF-I and free T(4); a normal karyotype in females; the absence of endomysium antibodies, of chronic organic, psychological, or syndromatic disease; and by the lack of clear signs of any osteodysplasia. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Two highly polymorphic microsatellite markers located around the SHOX coding region (CA-SHOX repeat and DXYS233) were PCR-amplified with fluorescent primers and separated in an automatic sequencing machine. Analysis of parental DNA was performed in the probands who had only one fragment size of each of both markers. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in three probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxological data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height, when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the three SHOX haploinsufficient probands, in comparison with the whole group. This observation was confirmed with the auxological data of five additional patients (four females) previously diagnosed with SHOX haploinsufficiency; all but the youngest girl had height-adjusted extremities-trunk ratios more than 1 SD below the mean. All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Our observations suggest that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 + 1/2 height (m) and to add a critical judgment of the hand radiography.

Clinical and radiologic characteristics of the imploding antrum, or “silent sinus,” syndrome

Objectives To present the clinical and radiologic details of a series of patients with the imploding antrum, or silent sinus, syndrome, together with examples of the surgical findings and management. Design Retrospective, noncomparative case series. Participants Fourteen patients assessed in the Orbital Service at Moorfields Eye Hospital. Main outcome measures Changes of clinical signs, symptoms, and radiologic signs. Results Seven men and seven women, between the ages of 25 and 78 years (mean, 41.3 years), had unilateral enophthalmos, their having noted the anomaly for an average of 8 months (range, 1–36 months). All patients were nonsmokers. There was no evidence of progression of the condition in eight cases followed up for up to 63 months. On the affected side, there was 1 to 4 mm enophthalmos and up to 4 mm hypoglobus, with secondary narrowing of the vertical palpebral aperture in some cases, but no effect on visual function, and there was significant disturbance of ocular motility in only one case. The condition is characterized radiologically by a smooth inward bowing of the walls of the maxillary antrum on the affected side, with secondary enophthalmos and hypoglobus. In all 14 cases, the maxillary roof (orbital floor) was drawn downwards, and the medial and posterolateral walls of the maxilla were concave in 13 cases where it could be assessed. In one patient, there was associated inward collapse of the ipsilateral ethmoid complex. There was a patchy loss of mineral from the maxillary roof in 9 of 13 cases and, where the posterolateral maxillary wall was affected, there was a concomitant increase in the radiolucency (fat) of the pterygopalatine fossa. Some soft-tissue changes were present in the affected antrum in all 14 patients, and there was an air–fluid level in three patients. In 12 patients where septal deviation was present, this was to the affected side in 10 (83%), and an abnormally directed middle turbinate was also frequently observed (10 of 14 cases). Conclusions The silent sinus syndrome mainly presents as unilateral enophthalmos in younger people and has very characteristic clinical and radiologic signs with, in many cases, abnormal intranasal anatomic characteristics on the affected side. The condition may be exclusive to nonsmokers. The acute onset and long-term stability of the condition suggests that, although chronic and largely asymptomatic sinus disease may be the underlying cause, an acute event precipitates collapse of the orbital floor or (in fact) a widespread “implosion” of all antral walls resulting from maxillary atelectasis. Therefore, we prefer the term imploding antrum syndrome—describing the relatively acute, symptomatic, event—rather than the name silent sinus syndrome, which relates to a putative underlying mechanism.

The role of imaging in the management of primary pleural malignancies

Malignant pleural mesothelioma is a rare tumour, but its incidence is increasing. Imaging is invariably involved in its diagnosis, staging, and follow-up. Although there are some characteristic radiological signs, none are pathognomonic. Computed tomography (CT) and magnetic resonance (MR) have similar local staging accuracies, but have distinct limitations; MR has marginal superiority in specific areas and should probably be offered to surgical candidates. The capabilities of multidector CT await evaluation. The role of positron emission tomography (PET), and PET-CT is undefined, but will likely have a major contribution. The challenges in imaging are matched by controversies in staging and treatment, which require future close multidisciplinary and multicentre collaboration.

Sífilis congênita simulando a síndrome da criança espancada: relato de caso

As autoras descrevem os achados radiológicos dos ossos longos de um recém-nascido com diagnóstico confirmado de sífilis congênita, enfatizando o diagnóstico diferencial com a síndrome da criança espancada. É apresentada a evolução radiológica das lesões nos ossos longos, do nascimento até o quarto mês de vida. Os dados clínicos e laboratoriais do recém-nascido, as radiografias anteriores e os achados radiológicos característicos da doença de base foram essenciais para o diagnóstico desta doença.