Sole Presenting Manifestation Research Articles

Proximal muscle weakness as the sole manifestation of Cushing’s disease, misdiagnosed as dermatomyositis: a case report

BackgroundCushing’s syndrome consists of signs and symptoms related to prolonged exposure to high levels of glucocorticoid, and should be considered in individuals with the discriminatory signs and symptoms. Proximal myopathy is an important discriminatory sign.Case presentationWe report the case of a 36-year-old Iranian man who presented with proximal muscle weakness. He visited a rheumatologist in an outpatient clinic, and according to proximal muscle weakness and heliotrope rash (based on the rheumatologist’s notes) with the impression of dermatomyositis, prednisolone and azathioprine were prescribed for him that did not improve his clinical status and he was gradually wheelchair dependent. He was admitted to the hospital for evaluation of paraneoplastic syndromes. Standard laboratory tests and imaging were unremarkable, other than a brain magnetic resonance imaging that demonstrated a 30 × 12 mm homogeneously enhancing mass in the sellar region with extension to the suprasellar area. He had serum cortisol of 295 ng/mL, and adrenocorticotropic hormone of 222 pg/mL (on 5 mg prednisolone twice daily), with a diagnosis of Cushing’s disease. He underwent two sessions of trans-sphenoidal surgery 4 months apart. After the first surgery, the proximal muscle weakness improved dramatically and he was walking with the aid of a walker, and after the second surgery he is walking without any aids.ConclusionThis case report emphasizes the high diagnostic importance of proximal muscle weakness as the sole presenting manifestation of Cushing’s syndrome/disease.

Cerebral Venous Thrombosis as The Sole Presenting Manifestation of Human Immunodeficiency Virus and Hepatitis B Virus Co-Infection.

Cerebral venous thrombosis (CVT) following either human immunodeficiency virus (HIV) infection or hepatitis B virus (HBV) infection is a very rare condition. Moreover, it has never been reported as the presenting manifestation of HIV and HBV co-infection, even more so when the patient had a normal CD4 count and no demonstrable opportunistic infections. We aimed to report the first case of an adult Indian male, an intravenous drug abuser who developed CVT as the presenting manifestation of HIV-HBV co-infection. Patient data were obtained from medical records from the Bangur Institute of Neurosciences, Institute of Post Graduate Medical Education and Research & SSKM Hospital, Kolkata, West Bengal, India. A 25-year-old male with a history of intravenous drug abuse and a normal CD4 count developed CVT as the presenting manifestation of HIV-HBV co-infection. His CD4 count was normal, and he had no demonstrable opportunistic infections. He had an uneventful recovery of the condition (CVT) following the institution of conventional anticoagulation therapy alongside anti-retroviral therapy. Whether illicit drug abuse or HIV/HBV infection itself or all in combination led to this thrombotic event cannot be precisely established. Notwithstanding, we recommend serologic testing for HIV and HBV in patients suffering from CVT with high-risk behavior.

1363 A Rare Case of Heterozygous Hemochromatosis Presenting as Recurrent Pancreatitis

INTRODUCTION: Hemochromatosis induced pancreatitis is a relatively rare cause of acute pancreatitis that may complicate further into chronic or recurrent pancreatitis. However, heterozygous hemochromatosis is an exceptionally rare cause of overt disease with only a few cases reported to date. Herein we describe a case of heterozygous hemochromatosis solely presenting as recurrent pancreatitis. CASE DESCRIPTION/METHODS: A 32-year-old female patient with a past medical history of hypertension presented to our emergency department with epigastric pain of one-day duration. Her only medications were labetalol 300 mg and lorazepam 0.5 mg with reported alcohol use of two glasses of wine up to two to three times a week. On arrival, blood pressure was 177/116 mmHg. All vital signs were otherwise within normal limits. Physical examination was significant for mild epigastric and left upper quadrant tenderness. Initial laboratory workup was remarkable for elevated AST at 197 U/L, ALT of 63 U/L, alkaline phosphatase 124 U/L, and total Bilirubin 1.5 µmol/L. Lipase was within normal limits at 69 U/L. Urine toxicology screen was negative. IgG-4 level was within normal limits as well as triglycerides at 67 mg/dL. Magnetic resonance imaging of the abdomen (Figure 1) showed mild hepatomegaly and hepatic steatosis. The pancreas and gallbladder showed no acute changes. Hepatobiliary iminodiacetic acid (HIDA) scan showed a decreased ejection fraction at 6% (Figure 2). Magnetic resonance cholangiopancreatography (Figure 3) showed signs of chronic pancreatitis and a dilated pancreatic duct proximally. Signal characteristics in the spleen and marrow compartment suggested iron deposition leading to a more thorough investigation for hemochromatosis and hence transferrin saturation level returned elevated at 86% and ferritin at 800. She tested heterozygous for the C282Y mutation. The patient was managed conservatively and discharged home with plans for initiation of phlebotomy. The patient's transferrin saturation and ferritin normalized and reported no recurrent episodes of pancreatitis on follow up at 7 months. DISCUSSION: Hemochromatosis is a condition of iron overload and deposition leading to various organ dysfunction. On that spectrum, pancreatitis is considered an extremely rare manifestation, never mention, the sole presenting manifestation of this disease. Clinicians should be cognizant of the variety of medical conditions that can cause pancreatitis and investigate them when clinically indicated.

Leprosy presenting as remitting seronegative symmetrical synovitis with pitting oedema syndrome \u2013 a case report

BackgroundLeprosy typically manifests with skin and peripheral nerve involvement. Musculoskeletal complaints are the third most common, and can be the sole presenting manifestation. They range from arthralgia/arthritis in reactional states to full mimics of systemic rheumatic diseases. Remitting Seronegative Symmetrical Synovitis with Pitting Oedema syndrome has only been described once in a patient with already diagnosed Leprosy.Case reportA 68-year-old male, from an endemic region of familial amyloid polyneuropathy, presented with an inaugural Remitting Seronegative Symmetrical Synovitis with Pitting Oedema like syndrome, more that 20 years after travelling to Leprosy endemic areas. Arthritis would resurface whenever oral prednisone was tapered, so methotrexate was started, controlling the complaints. Only one year later, after the appearance of peripheral neuropathy and skin lesions, it was possible to diagnose Leprosy, through the identification of Mycobacterium leprae bacilli in a peripheral nerve biopsy.ConclusionThis report is an example of the heterogeneity of manifestations of Leprosy, namely rheumatic, and the challenge of diagnosing it when typical complaints are absent. It is also a reminder that this disease should be considered whenever a patient with a combination of skin/neurologic/rheumatic complaints has travelled to endemic countries in the past.

Characteristics of airway hyperresponsiveness in children with chest tightness variant asthma

Objective To analyze the characteristics of airway hyperresponsiveness and fractional exhaled nitric oxide (FeNO) in children with chest tightness variant asthma (CTVA) in comparison with cough variant asthma (CVA) and the typical asthma. Methods From January 2012 to June 2015, 37 atypical asthma children with chest tightness as the sole presenting manifestation were selected as subjects (CTVA group). Meanwhile, 100 children who were newly diagnosed as CVA and 100 children who were newly diagnosed as typical asthma were selected as control group.All of the children in 3 groups had completed FeNO measurement, spirometry and with either positive result of bronchial provocation test or positive result of bronchial dilation test.The differences in FeNO and spirometry data among 3 groups were analyzed. Results FeNO was 11.0(6.0, 33.0) ppb in CTVA group, but 28.0(16.0, 52.0) ppb in typical asthma group, which indicated that FeNO was significantly lower in CTVA group than that in typical asthma group (P 0.05). Conclusion CTVA children have lower airway hyperresponsiveness and lower FeNO than typical asthma children.CTVA children may have similar airway hyperresponsiveness as CVA children. Key words: Chest tightness variant asthma; Hyperresponsiveness; Asthma; Child

Cardiac tamponade as the sole presenting manifestation of systemic lupus erythematosus in a 3-year-old girl

Cardiac tamponade as the sole presenting manifestation of systemic lupus erythematosus in a 3-year-old girl

Leprosy Masquerading as Systemic Rheumatic Diseases.

Rheumatologic manifestations not only are encountered in leprosy but also can be the first and even the sole presenting manifestation. The hallmark of leprosy is skin and peripheral nerve affection; however, it can affect a wide range of other organs, with the joints being the commonest. We have searched PubMed with the key words leprosy, arthritis, vasculitis, rheumatic diseases, and autoantibodies in a proper combination. Relevant studies were retrieved from scanning of their abstracts. The relevant references provided in these articles were also selected and reviewed. We summarize the clinical and laboratory manifestations that make leprosy masquerade as a systemic rheumatic disease. Moreover, we report 4 Egyptian patients who presented with rheumatologic manifestations, namely, arthritis and vasculitis that turned out to be leprosy related.

“Critical care without walls” - Impact of a “pediatric emergency team” on Picu admissions from the wards and overall mortality

A high index of suspicion is needed in pediatric patients with neurological symptoms being the sole presenting manifestation, to diagnose infection with the Human Immunodeficiency Vims (HIV). This is a write up of two such cases who were admitted to the pediatric intensive care unit with neurological manifestations.A 6 year old previously healthy child, who initially presented with intermittent drowsiness and fluctuation in blood pressure, later during hospital stay, developed progressive motor, cognitive, visual and language difficulties. Investigations revealed the child to be HIV positive and magnetic resonance imaging (MRI) findings were consistent with progressive multifocal leucoencephalopathy.A 12 yr old child had stroke initially (for which extensive work up had been done) and later, after 8 months presented with the same complaints along with severe pneumonia. He succumbed to severe opportunistic infections. That he was HIV positive, had not been detected during the first admission as left sided weakness was the only presenting manifestation.

A new phenotype of asthma: chest tightness as the sole presenting manifestation

A new phenotype of asthma: chest tightness as the sole presenting manifestation

Chronic Cough as the Sole Presenting Manifestation of Allergic Bronchopulmonary Aspergillosis

Chronic Cough as the Sole Presenting Manifestation of Allergic Bronchopulmonary Aspergillosis

Unilateral Macroglossia as Sole Presenting Manifestation of Internal Carotid Artery Dissection

A patient presented with acute-onset, painless, unilateral enlargement of the tongue. Steroid treatment for angioedema was ineffective, and a biopsy of an apparent mass of the tongue base showed normal tissue. Subsequent magnetic resonance imaging showed enlargement, enhancement, asymmetric T2 hyperintensity of the left half of the tongue, and dissection of the left cervical internal carotid artery (ICA) at the skull base. Unilateral enlargement of the tongue due to acute neurogenic denervation may be the sole clinical presentation of a spontaneous arterial dissection at the skull base. The hypoglossal neuropathy resulted from compression by the pseudoaneurysmal ICA dilatation or ischemia from interruption of the vasa nervorum.

Arthritis in leprosy

Leprosy, a chronic granulomatous infection caused by Mycobacterium leprae, classically presents with cutaneous and neurological manifestations. Musculoskeletal involvement though third most common is underdiagnosed and underreported. It may manifest in the form of Charcot's arthropathy, acute symmetrical polyarthritis or swollen hands and feet syndrome during lepra reactions, insidious-onset chronic symmetrical polyarthritis mimicking RA or as isolated tenosynovitis or tenosynovitis associated with arthritis or neuropathy. At times, articular involvement may be the sole presenting manifestation even without cutaneous lesions. Other rheumatological manifestations occasionally reported are enthesitis, sacroiliitis, cryoglobulinaemic vasculitis and DM. With increasing travel of population between tropical and temperate zones, it is likely that rheumatology clinics in countries free of leprosy may come across cases of leprosy with rheumatological manifestations. Delay in diagnosis and management may be detrimental and may result in deformities and loss of function. Not only this, but recent reports of leprosy being diagnosed in native white populations following anti-TNF-α therapy should alert rheumatologists across the globe to be more familiar with this disease. This review is aimed at presenting a comprehensive clinical scenario of various rheumatological manifestations of leprosy to sensitize rheumatologists and physicians across the continents.

Bullous Systemic Lupus Erythematosus as an Initial Manifestation of SLE

Bullous systemic lupus erythematosus (BSLE) is a rare subset of systemic lupus erythematosus that is often associated with autoimmunity to type VII collagen. We describe a 45-year-old woman with BSLE who presented with vesiculobullous lesions as an initial manifestation of SLE. The patient first noticed a widespread urticarial, erythematous eruption associated with tense blisters, erosions, and crusting. She was diagnosed with bullous pemphigoid and underwent a one-month course of treatment with betamethazone. Because of the appearance of marked proteinuria, a subsequent renal biopsy, and serological tests, the patient was diagnosed with rapidly progressive glomerulonephritis and systemic lupus erythematosus. The patient's IgG circulating antibodies labeled the dermal floor of salt-split skin and recognized type VII collagen in immunoblot studies. Although methylprednisolone pulse therapy for glomerulonephritis did not alleviate the vesicullobullous eruption, treatment with dapsone resulted in dramatic disappearance of the lesions. Cessation of dapsone therapy due to hemolysis with Heinz-body formation did not aggravate the bullous disease. Our case illustrates that a generalized vesiculobullous eruption can be the sole presenting manifestation of SLE. It also emphasizes the close temporal relationship between BSLE and lupus nephritis.

Otalgia as the sole presenting manifestation of subdural hematoma

A case is reported of a 57-year-old man with sudden development of nontraumatic left-sided otalgia without any localizing features on otolaryngologic or neurologic examinations. The condition persisted despite empirical antibiotic therapy and simple analgesics. A subsequent computed tomography of the head revealed a subacute left frontoparietal subdural hematoma that was confirmed on magnetic resonance imaging. Neurosurgical drainage was performed with complete symptom resolution. This case report illustrates a possible rare sole presenting manifestation of subdural hematoma. This condition should be considered early in cases of otalgia if no causes are deduced after extensive otolaryngologic evaluation. (Am J Otolaryngol 2002;23:177-180. Copyright 2002, Elsevier Science (USA). All rights reserved.)

Severe Upper Airway Obstruction From Cricoarytenoiditis as the Sole Presenting Manifestation of a Systemic Lupus Erythematosus Flare

Upper airway obstruction due to laryngeal involvement is a known complication of systemic lupus erythematosus (SLE). Laryngeal involvement typically accompanies inflammatory activity involving other sites and varies from mild mucosal inflammation to bilateral vocal cord immobility. Cricoarytenoid arthropathy is a rare cause of severe airway obstruction in patients with SLE and almost always occurs in the presence of other associated symptoms. Furthermore, in contrast to patients with rheumatoid arthritis, in whom chronic involvement of cricoarytenoid joints occurs more commonly and often requires surgical intervention, patients with SLE typically present with acute arthritis of cricoarytenoid joints and respond to corticosteroid therapy alone. We describe a patient with known SLE who presented with severe acute upper airway obstruction as the sole manifestation of active SLE after several years of quiescence. The laryngeal involvement progressed from mucosal inflammation to acute cricoarytenoiditis, despite the administration of high-dose corticosteroid therapy, necessitating emergent intubation and tracheostomy. This case illustrates the importance of considering SLE in the differential diagnosis of patients presenting with acute upper airway obstruction.

Chronic Cough Due to Gastroesophageal Reflux: Clinical, Diagnostic, and Pathogenetic Aspects

Gastroesophageal reflux (GER) is a common cause of chronic cough. Moreover, chronic cough can be the sole presenting manifestation of GER disease (GERD). It has been suggested recently that GER most often causes chronic cough by stimulating the distal esophagus. To gain further diagnostic and pathophysiologic knowledge, we prospectively evaluated a group of patients with chronic cough likely to be due to GER with extensive gastrointestinal and respiratory studies and then observed their response to antireflux therapy. We prospectively characterized 12 subjects whose chronic cough was likely to be due to GER by chest radiographs, barium esophagography, 24-h esophageal pH monitoring (EPM) with probes in the distal and proximal esophagus, esophagoscopy, and bronchoscopy. Then, prior to instituting antireflux therapy, we objectively counted coughs during the distal esophageal infusion of 0.1 N HCl or 0.9 percent saline solution administered in a randomized, double-blind, standardized fashion (ie, Bernstein acid-perfusion test). Gastroesophageal reflux was determined to cause cough in all subjects based on disappearance of cough with antireflux therapy. It was clinically "silent" in 75 percent. The EPM was the test most frequently abnormal (sensitivity, 92 percent). Distal esophageal data revealed that 10 of 12 subjects had GER-induced coughs (12 +/- 12) while only 7 of 12 had an abnormal esophageal pH conventional parameter (eg, percent time pH < 4). Compared with the distal esophagus, GER to the proximal esophagus occurred (p = 0.017) and induced cough (p = 0.004) less often. Compared with baseline (9.3 +/- 17.6), there were no differences in coughs induced by the infusion of saline solution (9.2 +/- 15.9) or acid (15.1 +/- 26.7); the number of coughs induced by acid was negatively correlated with distal esophageal acid-GER events during EPM (r = -0.64, p = 0.01). Neither bronchoscopy nor chest radiographs were consistent with aspiration. There is a clinical profile that prospectively predicts which patients have chronic cough due to GER. The cough was most likely due to stimulation of the distal esophagus, not aspiration. Intraesophageal acid is unlikely to be the sole mediator in gastric juice causing the cough. While EPM is the single most helpful diagnostic test, conventionally utilized diagnostic indices of GERD can be misleadingly normal; observing GER-induced coughs is more frequently helpful.

Protective Effect of Theophylline on Bronchial Hyperresponsiveness in Patients with Allergic Rhinitis

Disorders of the upper respiratory tract, particularly allergic rhinitis are commonly associated with bronchial hyperresponsiveness. The latter may be responsible for chronic cough, a common symptom in patients with allergic rhinitis, which, as previously shown, can be the sole presenting manifestation of bronchial hyperresponsiveness. Theophylline is widely used in patients with asthma for its bronchodilator effect, whereas its action on bronchial reactivity is controversial. The aim of this study was to determine the effect of theophylline administration on bronchial hyperresponsiveness in patients with allergic rhinitis complaining of chronic cough. Fourteen patients were studied. All of them were judged atopic on the basis of positive skin tests to common allergens. During control, spirometry, flow-volume curves and specific airway conductance (SGaw) were measured. Bronchial challenges were then performed with increasing concentrations of carbachol, and dose-response curves were constructed. The concentration of carbachol, which decreased SGaw by 35% from baseline (PD35) was determined by interpolating from the dose-response curve. After control measurements patients received in a randomized, double-blind crossover fashion either theophylline 10 mg/kg/day orally or placebo for 30 days. Measurements were then redone. After a washout period of 8 days the measurements were repeated, and patients received theophylline or placebo for a second period of 30 days. Measurements were again performed at the end of this last study period. During control all patients had normal baseline lung function data and showed marked bronchial hyperresponsiveness, PD35 amounting to 26 +/- 7 micrograms of carbachol (normal value greater than 160 micrograms). No significant changes in PD35 were noted after placebo and washout when compared with control values.(ABSTRACT TRUNCATED AT 250 WORDS)

Chronic Cough: The Spectrum and Frequency of Causes, Key Components of the Diagnostic Evaluation, and Outcome of Specific Therapy

A successful, systematic, anatomic, diagnostic protocol for evaluating patients with chronic cough was presented in 1981. To determine whether it was still valid, we prospectively evaluated, over a 22-month interval, 102 consecutive and unselected immunocompetent patients complaining of cough an average of 53 +/- 97 months (range, 3 wk to 50 yr). Utilizing the anatomic, diagnostic protocol modified to include prolonged esophageal pH monitoring (EPM), the causes of cough were determined in 101 of 102 (99%) patients, leading to specific therapy that was successful in 98%. Cough was due to one condition in 73%, two in 23%, and three in 3%. Postnasal drip syndrome was a cause 41% of the time, asthma 24%, gastroesophageal reflux (GER) 21%, chronic bronchitis 5%, bronchiectasis 4%, and miscellaneous conditions 5%. Cough was the sole presenting manifestation of asthma and GER 28 and 43% of the time, respectively. While history, physical examination, methacholine inhalational challenge (MIC), and EPM yielded the most frequent true positive results, MIC was falsely positive 22% of the time in predicting that asthma was the cause of cough. Laboratory testing was particularly useful in ruling out suspected possibilities. We conclude that the anatomic diagnostic protocol is still valid and that it has well-defined strengths and limitations.

Chronic cough as the sole presenting manifestation of gastroesophageal reflux.

Nine patients complaining only of chronic cough of unknown cause were prospectively studied with prolonged esophageal pH monitoring (EPM) before and after cough had disappeared as a complaint in order to determine if and why gastroesophageal reflux (GER) was causing their coughs. Coughs disappeared as a complaint an average of 161 +/- 75 days after medical therapy for GER. Comparisons of pretreatment and post-treatment EPM data revealed the following: numbers of coughs (p = 0.029), total refluxes (p = 0.001), refluxes greater than or equal to 5 min (p = 0.019), and reflux-induced coughs (p = 0.005) had significantly decreased in the distal esophagus, and total refluxes (p = 0.05) had significantly decreased in the proximal esophagus. During the entire study period, the number of coughs were significantly correlated with the number of total refluxes (p = 0.039), longest reflux (p = 0.019), number of refluxes greater than or equal to 5 min (p = 0.006), and percent of total time that pH was less than 4 (p = 0.017) in the distal esophagus. On the basis of these results, we conclude that (1) cough can be the sole presenting manifestation of GER, and it gradually responds to standard GER therapy; (2) prolonged EPM is safe, well-tolerated, and extremely useful in diagnosing clinically silent GER; (3) the mechanism by which GER causes cough is related to a critical number and/or duration of reflux episodes in the distal and/or proximal esophagus.

Otologic Manifestations of Langerhans' Cell Histiocytosis

Eighteen of 62 children diagnosed with Langerhans' cell histiocytosis at the Children's Hospital of Pittsburgh (Pa) between 1970 and 1986 demonstrated ear and temporal bone involvement. In six children, such otologic disease was their sole presenting manifestation. Common signs and symptoms included aural discharge, postauricular swelling, and conductive hearing loss. The otologic findings in these children, if not investigated properly, could easily be attributed to acute or chronic infectious ear disease. Computed tomography with contrast enhancement proved to be particularly valuable as a diagnostic study because of its clear delineation of both osseous and soft-tissue temporal bone involvement. Computed tomographic findings could also be used to enhance local treatment by guiding surgical biopsy and curettage procedures or defining low-dose radiation therapy portals. Eleven of these 18 children with otologic Langerhans' cell histiocytosis additionally required chemotherapy due to the systemic nature of their disease.