Uncommon Association Research Articles

Ectopic G-Csf Production by Malignant Plasma Cells in Patients with Diagnostic Criteria of Chronic Neutrophilic Leukemia

Chronic Neutrophilic Leukemia (CNL) is a relatively uncommon myeloproliferative neoplasia. Its diagnosis is based on the exclusion of the possible causes of neutrophilia altogether by the laboratory findings. The ectopic production of G-CSF by pathological plasma cells is well known in the medical literature. We present the case of a 77 year old woman fulfilling the diagnostic criteria of CNL. We verified G-CSF production by her pathological plasma cells using cellular separation techniques and PCR. The purpose of this paper is to communicate another case of the uncommon association between myeloma and neutrophilia, and reinforce the necessity of ruling out the existence of an underlying monoclonal gammopathy when a patient presents with CNL-like symptoms.

Morphea Associated with Celiac Disease and Hearing loss: more than one Localized Disease

Localized scleroderma, also known as morphea, comprises a group of conditions that involve essentially the skin and subcutaneous tissues. They have various features and range from very small plaques to extensive fibrotic lesions that may cause significant functional and cosmetic deformity. In this case discussion, we report the case of a young girl with an uncommon association of three autoimmune diseases, including well-documented generalized morphea with celiac disease and hearing loss emphasizing the spectrum of autoimmunity.

Elevated CA 19-9 Levels Observed in Association with a Pulmonary Neuroendocrine Tumour and Amyloid

Investigations completed in a 77-year-old ex-smoker presenting with weight loss showed raised CA 19-9 levels. The findings of chest radiograph, abdominal computed tomography (CT) and gastrointestinal endoscopic examinations were all normal. On follow-up, the patient developed left upper lobe collapse on chest radiograph with increasing CA 19-9 levels. Chest CT findings suggested the presence of a left upper lobe tumour. The results of a biopsy of the left upper lobe nodule seen on bronchoscopy suggested a diagnosis of amyloidosis; however, this was not the only diagnosis. The left upper lobe mass comprised a neuroendocrine tumour with amyloid deposition just beneath the bronchial epithelium and focally between the nests of the tumour cells. We report and discuss this uncommon association and presentation.

Modelling the pre‐assessment learning effects of assessment: evidence in the validity chain

OBJECTIVESWe previously developed a model of the pre-assessment learning effects of consequential assessment and started to validate it. The model comprises assessment factors, mechanism factors and learning effects. The purpose of this study was to continue the validation process. For stringency, we focused on a subset of assessment factor–learning effect associations that featured least commonly in a baseline qualitative study. Our aims were to determine whether these uncommon associations were operational in a broader but similar population to that in which the model was initially derived.METHODSA cross-sectional survey of 361 senior medical students at one medical school was undertaken using a purpose-made questionnaire based on a grounded theory and comprising pairs of written situational tests. In each pair, the manifestation of an assessment factor was varied. The frequencies at which learning effects were selected were compared for each item pair, using an adjusted alpha to assign significance. The frequencies at which mechanism factors were selected were calculated.RESULTSThere were significant differences in the learning effect selected between the two scenarios of an item pair for 13 of this subset of 21 uncommon associations, even when a p-value of < 0.00625 was considered to indicate significance. Three mechanism factors were operational in most scenarios: agency; response efficacy, and response value.CONCLUSIONSFor a subset of uncommon associations in the model, the role of most assessment factor–learning effect associations and the mechanism factors involved were supported in a broader but similar population to that in which the model was derived. Although model validation is an ongoing process, these results move the model one step closer to the stage of usefully informing interventions. Results illustrate how factors not typically included in studies of the learning effects of assessment could confound the results of interventions aimed at using assessment to influence learning.Discuss ideas arising from this article at ‘http://www.mededuc.com discuss’

Occult Cause of Paraneoplastic Acanthosis Nigricans in a Patient with Known Breast Dcis: Case and Review

Paraneoplastic acanthosis nigricans (pan) is an infrequently encountered cutaneous manifestation of internal malignancy. Here, we describe a case of pan in the setting of a known breast ductal carcinoma in situ, which, to our knowledge, had not been described in association with pan. As a result, thorough investigation was undertaken to search for another concurrent neoplasm that would better explain the development of pan. In so doing, we identified a coexisting metastatic cholangiocarcinoma. We thus conclude that when pan is observed in an uncommon association with a known malignancy, further investigation should be undertaken to explore whether a more likely occult culprit exists.

Whipple's disease and giardiasis: An uncommon association

Whipple's disease and giardiasis: An uncommon association

Unsuspected spondylolysis in patients with lumbar disc herniation on MRI: The usefulness of posterior epidural fat

Background and purposeLumbar disc herniation (LDH) at the level of non-displaced spondylolysis (isthmic spondylolisthesis) is an uncommon association rarely evaluated in the literature. In this study, authors examine whether the continuous posterior epidural fat between the dura mater and spinous process (continuous double-hump sign) at the level of LDH is a valuable tool to identify patients with non-displaced spondylolysis on MRI. MethodsEighteen patients (group 1) presented at our department (2000–2010) with a LDH associated with an undiagnosed non-displaced spondylolysis on MRI. Spondylolysis was confirmed by direct visualization of the defect on CT-scan, dynamic radiography, MRI or at surgery. To validate this method, we made the same evaluation in 20 surgically treated patients (group 2) with a one-level LDH without spondylolysis. ResultsIn all patients of group 1 spondylolysis was unsuspected on the MRI report. However, a positive “continuous double-hump sign” was seen in 16 patients. The spondylolysis was recognized on MRI in six cases, on CT-scan in nine cases and on dynamic radiography in one case. Two cases were diagnosed surgically. In group 2, only one patient had a positive “continuous double-hump sign”. This new sign had a specificity of 95%, sensitivity of 88.88%, and accuracy of 92.10% for diagnosis of non-displaced spondylolysis. ConclusionsNon-displaced spondylolysis may be associated with adjacent LDH. Although uncommon, it is important for neurosurgeons to be aware of this association because of its implication on the therapeutical management. MRI is not always sufficient to recognize a non-displaced spondylolysis with certainty; however “continuous double-hump sign” may be used as a simple valuable diagnosis tool.

Incidence and risk factors for breast cancer subtypes in three distinct South‐East Asian ethnic groups: Chinese, Malay and natives of Sarawak, Malaysia

We determined the incidences of the estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) subtypes among breast cancer cases in Sarawak, Malaysia and their correlation with various risk factors in the three ethnic groups: Chinese, Malay and native. Subtype status was ascertained for 1,034 cases of female breast cancer (93% of all cases diagnosed since 2003), and the age-standardized incidence rates (ASRs) of each subtype were inferred. Case-case comparisons across subtypes were performed for reproductive risk factors. We found 48% luminal A (ER+/PR+/HER2-), 29% triple-negative (ER-/PR-/HER2-), 12% triple-positive (ER+/PR+/HER2+) and 11% HER2-overexpressing (ER-/PR-/HER2+) subtypes, with ASRs of 10.6, 6.0, 2.8 and 2.8 per 100,000, respectively. The proportions of subtypes and ASRs differed significantly by ethnic groups: HER2-positive cases were more frequent in Malays (29%; 95% CI [23;35]) than Chinese (22%; [19;26] and natives (21%; [16;26]); triple-negative cases were less frequent among Chinese (23%; [20;27]) than Malays (33%; [27;39]) and natives (37%; [31;43]). The results of the case-case comparison were in accordance with those observed in western case series. Some uncommon associations, such as between triple-negative subtype and older age at menopause (OR, 1.59; p < 0.05), were found. The triple-negative and HER2+ subtypes predominate in our region, with significant differences among ethnic groups. Our results support the idea that the risk factors for different subtypes vary markedly. Westernized populations are more likely to have factors that increase the risk for the luminal A type, while risk factors for the triple-negative type are more frequent in local populations.

Disease flare of ankylosing spondylitis presenting as reactive arthritis with seropositivity: a case report

IntroductionConcurrent rheumatoid factor seropositivity is occasionally detected in ankylosing spondylitis and often causes confusion in clinical routine. Overlap between various seronegative arthritides is a known but uncommon association. Differentiation of spondyloarthropathy from rheumatoid arthritis is important, since the natural history, complications, treatments and prognosis of the two diseases differ significantly.Case presentationHere, we report the case of a 47-year-old Sri Lankan man who had a long history of intermittent joint pains worsening following a recent episode of self-resolving non-bloody diarrhea. Subsequently, he developed a skin rash suggestive of keratoderma blenorrhagica and circinate balanitis. He had classical radiological evidence of ankylosing spondylosis (previously undiagnosed) associated with human leukocyte antigen B27 antigen, but was positive for rheumatoid factor.ConclusionsA disease flare of ankylosing spondylitis prompted by a minor diarrheal illness showing well documented features of reactive arthritis is remarkable. The prognostic implications of seropositivity in spondyloarthritis are discussed.

Tuberculoma leading to precocious puberty in a child: A common lesion with an uncommon association

Tuberculous meningitis can lead to precocious puberty. Central nervous system (CNS) hamartomas are common etiological factors but association of tuberculomas with precocious puberty is very unusual. Here, we are reporting a 6-year-old male child who developed precocious puberty secondary to tuberculoma.

Clinicopathological spectrum of 19 adenosarcomas of female genital tract, including uncommon clinical associations and immunohistochemical profile, reviewed at a single institution

Adenosarcomas of the female genital tract have been rarely documented as case series from our continent. Over a seven-year period, 19 adenosarcomas were critically reviewed. Nineteen tumors occurred in the age range of 21-65 years (mean: 43), in the endometrium (8), endometrium and cervix (4), cervix (4), and ovary (3). Four cases displayed coexisting leiomyomas; two, adenomyosis; two on background endometriosis; and one in post-treated cervix carcinoma. Histopathologically, the tumors were low grade (10; 52.6%) and high grade (9; 47.3%), the latter with sarcomatous overgrowth (SO) (7/9 cases). Dedifferentiation (8, 42.1%) and conspicuous decidualization (2) were noted. Immunohistochemically, the tumors focally expressed CD10 (4/6), smooth muscle actin (SMA) (3/8), desmin (8/11); diffuse vimentin (7/7), and estrogen receptor/progesterone receptor (ER/PR) (2/4). Ki-67 (6 cases) varied 5-20%. Seventeen patients underwent surgery and four received adjuvant treatment (3/4 high-grade tumors). Five tumors recurred (4 high-grade tumors with SO) and one metastasized. Among 11 patients, five were alive with disease (AWD) (mean: 29.4 months) and six, free of disease (FOD) (mean: 15 months), the latter mostly with low-grade type tumors (83.3% cases). Diverse clinicopathological spectrum was noted within adenosarcomas. Low-grade tumors were less aggressive than high-grade ones, with SO. Immunohistochemically, lower CD10 and ER/PR positivity was noted in high-grade tumors. Surgery formed the mainstay of treatment. Adjuvant treatment was offered in high-grade subtypes, including in tumors with SO.

Leiomyoma of the greater omentum presenting with massive ascites

INTRODUCTION: Primary tumours of the omentum are quite uncommon, although it is a common site for for secondaries. PRESENTATION OF CASE: We report a case of leiomyoma of the greater omentum in a 31-year-old nulliparous woman who presented with a 2-year history of progressive abdominal distension with examination findings of massive ascites and a mobile ill-defined centrally located intra-abdominal mass. The preoperative diagnosis was equivocal. At surgery a pedunculated greater omental mass, which was histologically reported as a leiomyoma, was seen. She had an uneventful post-operative recovery. She has been followed up for twelve months with no evidence of recurrence or residual disease. DISCUSSION: Extra-uterine leiomyoma is rare. It is even rarer for it to originate from the omentum. Pre-operative diagnosis is challenging. To the best of our knowledge this is the first reported case of leiomyoma of the omentum in Nigeria. CONCLUSION: The uncommon association of ascites with this tumour deserves further scrutiny. The patient is still being followed-up.

Pycnodysostosis with craniosynostosis

Pycnodysostosis (OMIM 265800) is an uncommon hereditary disorder characterized by osteosclerosis of the skeleton, short stature, and bone fragility. The syndrome was first described by Maroteaux and Lamy (1962). Facial dysmorphology, hypoplasia of the mandible,dysplasia of the skull, bones with delayed closure of the cranial sutures, clavicular dysplasia, acroosteolysis or partial aplasia of the terminal phalanges, and abnormal tooth eruption have also been reported (Gelb et al., 1995). An autosomal recessive mode of inheritance has been also suggested and the locus of the disease was initially mapped to human chromosome 1q21 by genetic linkage (Bernard et al., 1980). Since then, several mutations on unrelated patients and consanguineous families have been identified in the cathepsin K gene (CTSK), affecting osteoclast function.Only two previous reports have demonstrated the presence of craniosynostosis in patients with pycnodysostosis(Fleming et al., 2007; Osimani et al., 2010). The purpose of this case report is to describe the craniofacial and dental features of a 12-year-old boy with pycnodysostosisand an uncommon association with craniosynosotosis.

Le syndrôme de Sjögren-Larsson : à propos de 2 cas

Sjögren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes. The main features of the disease are its association with congenital ichthyosis, mental retardation, and spastic tetraplegia. We report on the diagnostic and therapeutic management of 2 cases of SLS. The diagnosis of SLS was suspected in the first patient at 2 years of age before the clinical triad appeared and confirmed at 4 years of age by the culture of fibroblasts and the peak of lipids on 1.3 ppm spectroscopy. After 3 months of treatment with zileuton, an inhibitor of leukotriene synthesis, moderate clinical efficacy for pruritus and ichthyosis was observed. The second patient was diagnosed at 1 year of age with the association of psychomotor retardation and congenital ichthyosis, in accordance with acute Guillain-Barré syndrome. Diagnosis was confirmed with enzymology, and cerebral spectro-MRI featured an abnormal lipidic peak. Zileuton therapy was initiated at the time of diagnosis and was effective for pruritus after 6 months of treatment. We report 2 cases of SLS with delayed diagnosis, due to non neonatal symptoms. Treatment with zileuton shows partial efficacy especially in pruritus. The uncommon association of this rare dysmyelinating disease with Guillain-Barré syndrome in the second patient is discussed.

Unusual Combination of Holt-Oram Syndrome and Persistent Left Superior Vena Cava

Holt-Oram (HO) is a syndrome characterized by congenital cardiovascular malformations, specifically atrial and ventricular septal defects, and skeletal abnormalities of the upper limbs bones. Associations of HO cardiac disorders with other congenital cardiac malformations, specifically persistent left superior vena cava (PLSVC) are rarely reported and its real incidence is unknown. We present a case of this unusual combination in a patient undergoing cardiac resynchronization therapy (CRT) device implant. A 63-year-old male with HO and a history of repaired atrial septal defect was presented for implantable cardioverter defibrillator (ICD) upgrade to CRT. The old implant was located in the right prepectoral area. The old device pocket in the right was accessed and a venous access to the right subclavian vein was obtained. The coronary sinus (CS) was easily cannulated and a long sheath advanced into the CS. A contrast injection revealed an unusually big-sized CS, with a diameter 2.5 times the fully deployed balloon. A 0.035 wire was advanced retrograde reaching the confluence of the innominate and left subclavian veins. The outer sheath was advanced to this location and contrast venography through the sheath allowed visualization of the left jugular and subclavian veins and visualization of the PLSVC draining into the CS. No target veins for lead implant were identified. The patient was referred for surgical implant of an epicardial lead. Transesophageal echocardiogram showed a CS identified as an unusually big vascular structure located between the left atrium and the left atrial appendage. We report an uncommon association of HO and PLSVC. This association was only reported twice in the past and this is the first one that constitutes a casual finding during the attempt of CRT device implant. This is a combination that may complicate a device implant and recognition of it in advance may avoid performing potentially unsuccessful procedures.

Hydrocephalus and spinal cord tumors: a review

Hydrocephalus secondary to intraspinal tumors is a well-known but rare condition since about 1% of patients with spinal cord tumors have various degrees of hydrocephalus at initial presentation. The mechanism of development of intracranial hypertension and hydrocephalus in patients with spinal cord tumor is not exactly known. The problematic aspects of this condition, with regard to clinical presentation and pathophysiology, are discussed and the relevant literature is reviewed. This uncommon association should always be kept in mind in the differential diagnosis of hydrocephalus of unknown etiology for three main reasons: the possibility of neurological deterioration if the patient is shunted prior tumor removal, the possibility to treat the hydrocephalus without shunting by simply removing the tumor, and the possible role of hydrocephalus as an early sign of intracranial metastasis in patients previously operated upon for removal of intramedullary gliomas. Due to the very slow evolution of the disease, a careful and close clinical and neuroradiological follow-up are essential for many years afterward. The presence of intracranial hypertension in a patient previously operated for a spinal tumor should be considered and investigated as an early sign of neoplastic intracranial seeding.

Tetralogy of Fallot: Imaging of common and uncommon associations by multidetector CT

PurposeTo demonstrate the superior role of multidetector computed tomography (MDCT) in delineation of the extracardiac vascular abnormalities including the pulmonary arterial tree, major aortopulmonary collateral arteries (MAPCAs), patent ductus arteriosus (PDA), and also the detection of the common and uncommon findings in Fallot Tetralogy cases for proper pre-surgical evaluation. Material and methodsA retrospective study of all multidetector CT images acquired to evaluate suspected cases of Tetralogy of Fallot sent by their respective referring physicians between April 2009 and August 2010. A total of 23 cases were included in this study. MDCT protocol, image analysis and calculations used in the diagnosis are explained in detail. ResultsDetailed explanation of the MDCT imaging findings in the 23 cases with Tetralogy of Fallot, as well as the common and uncommon associations of the disease, namely pulmonary atresia, MAPCAs, PDAs, atrial septal defects (ASDs), right sided aortic arch, and a few less common associations. ConclusionA customized approach to MDCT imaging improves the diagnostic accuracy and reduces unneeded prolongation of the study and sedation times. A careful preoperative perceptive of the complex cardiovascular anatomy in patients with Tetralogy of Fallot aids in exposing the patient to a directed and prepared surgical approach.

PO.01 IDDM associated with cerebellar ataxia; drug resistant complex partial seizures and intrathecal synthesis of anti GAD-Ab

High levels of antibodies to glutamic acid decarboxylase (anti GAD-Ab) are an uncommon association in neurological conditions. We describe a patient who initially presented with cerebellar ataxia. Four years later...

Peters Anomaly: Review of the Literature

Peters anomaly is a rare dramatic finding at birth and can be associated with other systemic malformations. We performed a literature review of multiple case reports and case series to better define the common characteristics and unusual findings associated with Peters anomaly. A representative case is discussed followed by a literature review of multiple case reports and case series. The literature search was conducted for the years 1969 to 2009. Cases and case series were included in the review of published English ophthalmic literature. Cases were excluded if no information was reported on ocular and systemic malformations or if no information was reported on surgical interventions or outcomes. In addition, if cases did not report laterality of the lesion, they were excluded from the review. Fifty-eight cases were found that fit the above criteria, and the relevant cases were reviewed to better characterize the systemic malformations, interventions, and outcomes associated with Peters anomaly reported in the literature. Fifty-eight cases of Peters anomaly were reviewed. Of those cases reporting sex, 56% were men and 44% of cases were women. In terms of laterality, 67.2% of cases were bilateral versus 32.8% of cases that were unilateral. Moreover, bilateral cases of Peters anomaly were associated with a higher rate of systemic malformations (71.8%) versus unilateral Peters anomaly (36.8%). This difference was significant (P < 0.03 by Fischer exact test). In the 15 eyes where results of penetrating keratoplasty were reported, the overall success rate was 53%. However, the success rate was significantly higher in patients with Peters anomaly type I (87.5%), as opposed to those patients with Peters anomaly type II (14.2%) (P < 0.02 by Fischer exact test). The clinical features, epidemiology, genetics, complications, and treatments of Peters anomaly are presented. Cornea specialists who care for pediatric patients should be aware of the common and uncommon associations with Peters anomaly. Although bilateral Peters anomaly is much more commonly associated with systemic malformations, we believe that all patients with Peters anomaly should be screened for systemic malformations by both pediatricians and geneticists and undergo chromosomal analysis and molecular genetic testing.

Isolated &lt;emph type="ital"&gt;ZIC4&lt;/emph&gt; Antibodies in Paraneoplastic Cerebellar Syndrome With an Underlying Ovarian Tumor

To describe a patient with paraneoplastic cerebellar syndrome and the uncommon association of isolated ZIC4 antibodies and ovarian cancer. Case report and review of the literature. Hospitalized care, follow-up in private practice. A 60-year-old woman with severe paraneoplastic cerebellar syndrome and an underlying ovarian adenocarcinoma. Neurological examination, lumbar puncture, laboratory tests, radiological imaging, and histological examination. Clinical course and titer of anti- ZIC4 antibodies in serum. Laboratory and cerebrospinal fluid tests revealed the isolated presence of ZIC4 antibodies. Screening results for small cell lung carcinoma were negative, while abdominal computed tomographic scan was suggestive of ovarian adenocarcinoma, which was confirmed by histological examination. Glucocorticosteroid administration and chemotherapy led to complete remission of paraneoplastic cerebellar degeneration. To the best of our knowledge, this is the first case of paraneoplastic cerebellar degeneration in a patient with isolated ZIC4 antibodies associated with ovarian adenocarcinoma.