Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.

OBJECTIVES: Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies such as limb girdle muscular dystrophy type R12 (LGMD 2 l, anoctaminopathy) mimic the presentation. Here we describe learning points identified from review of four patients with LGMD 2 l who were initially incorrectly diagnosed with IIM. Our aim is to provide clinicians working in adult rheumatology services with a toolkit to help identify non-inflammatory presentations of myopathy. METHODS: We performed retrospective review of medical notes, laboratory results, muscle imaging and histological findings of four patients with LGMD 2 l who were previously misdiagnosed with IIM. We focussed on clinical presentation and progression, therapeutic agents used and events leading to revision of the diagnosis. RESULTS: Three male patients and one female patient with a mean age of 51 years at presentation were reviewed. In each case, treatment with immunosuppressants, in one case for >15 years, was observed without a clear therapeutic response. All patients were negative for anti-nuclear antibodies and available myositis-associated/specific autoantibodies and associated connective tissue disease features were absent. Prominent fatty infiltration and selective muscle involvement on thigh MRI was found in common. CONCLUSIONS: Adult-onset genetic myopathies, particularly LGMD R12, can mimic IIM. Accurate diagnosis is crucial to avoid the use of potentially harmful immunosuppressive therapies, to allow appropriate genetic counselling and to facilitate involvement in research studies.

A probability score to aid the diagnosis of suspected giant cell arteritis.

OBJECTIVES: We propose a GCA probability score intended to help to risk-stratify patients referred by general practitioners with suspected GCA into those with high probability of GCA versus low probability of GCA. In this pilot study we evaluated the diagnostic accuracy of this proposed scoring system. METHODS: A scoring system was proposed based on clinical experience. Retrospective analysis was conducted from clinical notes of consecutive patients presenting to a Fast Track Pathway clinic between August 2016 and August 2017. The GCA Probability Score was calculated for each patient and receiver operating characteristic (ROC) curve plotted. RESULTS: Of 122 consecutive patients, full data were available for calculation of GCA probability score in all patients except one (excluded from this analysis). The area under the ROC curve was 0.953 (95% confidence interval: 0.911, 0.994). The ROC curve showed an optimal cut point of 9.5 out of a possible score of 32. At this cut-point there was a sensitivity of 95.7% and specificity 86.7%, and 88.4% of cases were correctly classified. CONCLUSIONS: The GCA Probability Score is a promising and feasible tool for risk stratification of patients referred by general practitioners with suspected GCA. In a fast track clinic setting this aids exclusion of GCA in low probability cases and confirmation of disease in high probability disease. Refinement and subsequent external validation of this score is required.

Adult cystic fibrosis--a rare diagnosis from India.

Cystic fibrosis (CF) is a multisystem disease characterized by chronic pulmonary infection, bronchiectasis, exocrine pancreatic insufficiency and elevated sweat chloride level. It is commonly considered as a pediatric disease. But it is now being diagnosed in increasing number of adults due to increased survival from availability of potent antibiotics, nutritional facility and diagnosis of mild cases which were unrecognized previously. CF is rarely reported from India and its adult presentation is rarer. Our case, a Hindu female from West Bengal, India was diagnosed to have CF at the age of 29 years. She had chronic cough and wheezing since childhood being treated as asthmatic patient. She had poor nutrional status, short stature and sexual infantilism. She had premature cataract. Because of chronic cough and expectoration we performed HRCT scan of thorax which revealed bilateral bronchiectasis. She had bilateral maxillary sinusitis and hypoplastic frontal sinus. Repeated sweat chloride tests revealed high values suggestive of CF. CF should be considered in differential diagnosis of adults with bronchiectasis and chronic sinusitis or child with bronchial asthma. High level of awareness is needed to diagnose CF in India, because of its rarity.

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE); a rare association with phyllodes tumour of breast.

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare entity mainly found in elderly males. It is characterized by pitting edema mainly of dorsum of both hands giving a "boxing glove hand" appearance; rarely involving feet also, acute in onset, negative rheumatoid factor and a good response to low dose corticosteroid therapy. Clinically it almost resembles a case of polymyalgia rheumatica, late onset rheumatoid arthritis or other seronegative spondyloarthropathy.Though there are multiple underlying factors causing this rare entity but it has very close associations with many malignancies.So far its association with solid tumours and hematological malignancies has been reported. Phyllodes tumour of breast shows wide spectrum of activity from a benign condition to a locally aggressive and sometimes metastatic tumour.One fourth of the cases recur after definitive treatment.Our case represent an unusual association with recurrent phyllodes tumour of breast with RS3PE.

Retroperitoneal fibrosis; a single-centre case experience with literature review.

OBJECTIVE: We present 13 patients with retroperitoneal fibrosis, focusing on clinical features, radiological characteristics, treatments and their outcomes. METHODS: Retrospective review of the medical records was performed of all retroperitoneal fibrosis patients diagnosed and treated in our department between 2012 and 2017. RESULTS: Twelve patients were male, with a median age of 64 years. Eleven patients presented with abdominal pain or back pain or both. Aetiologies varied from idiopathic to malignancy and vasculitis. Twelve patients had PET scans. These showed 18F-fluorodeoxyglucose-avid retroperitoneal soft tissue around the abdominal aorta in the vast majority, with five scans also demonstrating localized or generalized uptake by the aorta. In all cases except one, glucocorticoids were applied as the first-line therapy. Further immunosuppressive therapy was required in 10 cases. CONCLUSION: Our patients were male and older in age compared with the existing literature. PET scans were very helpful in diagnosis of retroperitoneal fibrosis. Rituximab was found to be an effective treatment in six of our patients.

Spread of human immunodeficiency virus 1 among men who have sex with men is emerging as a genuine social concern and affecting the general populace - case reports from Eastern India.

Human immunodeficiency virus (HIV) infection among men who have sex with men (MSM) has increased to a drastic proportion throughout India in the last couple of years due to a lack of productive identification and management framework. In apprehension of social disgrace these men attempt to live a normal hetero conjugal life and, in the process, act as a bridge in spreading the virus to their women partners. In this case report we have highlighted two cases which clearly distinguished the adequacy of HIV treatment among MSM when they are diagnosed during early or late phases of infection. An intensive and ample counseling to comprehend the psychology and sexual behavior of these men was found to be critically important in both the cases. Our study, which is actually the first of its kind, recorded and documented evidence of HIV infected MSM from Eastern India and renders a ray of hope among this marginally isolated group to comprehend the challenges and health risks faced by the MSM population. It also provides a format for the medical practitioners here in managing and treating related cases.

Distribution and determinants of cytomegalovirus induced end organ disease/s among people living with HIV/AIDS in a poor resource setting: observation from India.

BACKGROUND: In India, despite well-established anti-retroviral treatment programs, Cytomegalovirus (CMV) infection-related end-organ diseases (EODs) still remain a major concern resulting in exacerbation of morbidity and mortality among HIV/AIDS patients. A prospective study was designed to understand the distribution and prognosis of CMV associated EODs and to determine a standardized cut-off value for serum CMV viral load associated with the development of EODs amongst HIV/AIDS subjects. METHODS: In a cohort of 400 late-diagnosed HAART naïve HIV/AIDS subjects attending anti-retroviral centers of Kolkata during 2008-2014, the median duration of follow-up was 560 days, and at least 3 visits subsequent to the baseline were mandatory for eligibility. HIV-1 and CMV viral load were estimated by performing Real-Time Polymerase Chain Reactions (PCR). RESULTS: Among subjects, 40.5% (162/400) had CMV EODs which were more common at lower CD4 counts. Poor prognosis and higher death rate were associated with a low CD4 count and increased HIV-1 and CMV viral loads. Subjects having higher CD4 count responded better to therapy [for CD4 = 60-100: Risk Ratio:RR = 1.48 (95% Confidence Interval: 95%CI = 1.18-1.82) and for CD4 = 30-59: RR = 1.64 (95%CI = 1.18-2.27)]. The cut off value of the serum CMV viral load (expressed as log10DNA/ml serum) associated with the development of EODs and disseminated CMV EODs was determined as 5.4 (p<0.0001) and 6.4 (p<0.0001) respectively. These cut offs were found to have satisfactorily high sensitivity, specificity, positive and negative predictive values. CONCLUSION: Prognosis of CMV EOD was poor as indicated by higher death rates among subjects with lower CD4 count, and specific cut-off values were found to have useful potential for identification and treatment of CMV infected HIV/AIDS patients in due time to avoid CMV EODs among HIV/AIDS subjects. Targeted intervention programs seemed to be required urgently to make these cut-offs operational in order to minimize the burden of CMV EOD in this vulnerable population.

Unravelling the Gordian knot: diagnostic dilemma in an HIV-positive patient with neurological involvement.

We report a case of a 40-year-old seropositive-HIV patient with a CD4 count of 120 who presented with fever, severe headache and neck stiffness. Suspecting a case of tubercular meningitis (TBM; as tuberculosis is the commonest opportunistic infection in HIV/AIDS patients in India), a lumbar puncture was performed and a cerebrospinal fluid study revealed TBM. The patient was started on combination antitubercular drug therapy from directly observed treatment, short course (DOTS) (Cat 1 regimen) along with pyridoxine 40 mg/day and adjunctive corticosteroid therapy. However, despite adequate antitubercular therapy for 4 weeks, the patient did not show any improvement in his clinical condition. On the contrary, in the process he developed cytomegalovirus (CMV) retinitis. So we question our learned readers if the coinfection of Mycobacterium tuberculosis and CMV should be implicated for the failure to respond to isolated antitubercular therapy contrary to our expectation.