How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus

Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of “red flags” in cases of MFS suspicion. The study population included 306 patients (199 children and 107 adults) who were referred to the Department of Pediatric Cardiology due to suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 109 patients and marfanoid habitus in 168 patients. The study excluded 29 patients with other hereditary thoracic aneurysm syndromes. Comparative analysis between patients with Marfan syndrome and marfanoid habitus was performed. Symptoms with high prevalence and high positive likelihood ratio were identified (pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, lens subluxation, myopia ≥ 3 dioptres remarkably high stature). The differentiation between patients with MFS and marfanoid body habitus is not possible by only assessing external body features; however, “red flags” could be helpful in the screening phase.

Assessment of clinical and etiological factors in nail dyschromias

Healthy nails appear smooth and have consistent coloring. Nail dyschromias have a wide variety of presentation. There are numerous causes of discoloration of the nail affecting the nail plate, nail attachments, or the substance of the nail. Different pattern of nail dyschromias can point out certain dermatological or systemic diseases. To evaluate the causes of nail dyschromias in our clinical setting. Cross sectional observational study. 200 patients presenting with nail dyschromias were included in the study from April 2015 to July 2015. Detailed history was taken and cause for nail dyschromias was evaluated. 115 (57.5%) were males and 85 (42.05%) were females. The most seen nail dyschromia in this study was melanonychia (86.5%) followed by leukonychia (5%), blue chromonychia (5%), brown chromonychia (2%) yellow chromonychia (1.5%). The cause of nail dyschromias were:60 cases(%) were due to antiretroviral drugs, 25(12.5%) due to HIV, 30(15%) physiological melanonychia, 7(3.5% of onychomycosis, 8(4%) of lichen planus, 7(3.5%) of eczema, 15(7.5%) vitamin B12 deficiency, 10(5%) chemotherapy induced blue chromonychia, 3(1.5%) haematoma, 10(5%) leukonychia, 3(1.5%) jaundice 2(1%) Addison’s disease induced, 3(1.5%) cosmetic induced and 17(7.5%) due to other dermatological and systemic conditions. Examination of nail should always be a part of routine cutaneous examination and presentation with nail dyschromias should be worked up with the help of a good history and examination. Careful examination of the nail may help in identifying the root cause and many a times unravels some underlying systemic disorder

Celiac Disease Presenting as Hemolytic Anemia Mimic: A Case Report

Celiac disease, an immune-mediated enteropathy, results from gluten ingestion in the form of wheat, rye, and barley in genetically susceptible individuals. It is a systemic disorder characterized by a variable combination of gluten-related signs and symptoms, and disease-specific antibodies in addition to enteropathy. The clinical presentation of celiac disease is extremely variable: a small proportion of patients presenting with severe gastrointestinal symptoms and malabsorption, and extraintestinal symptoms, and a large proportion having no symptoms at all. Owing to the varied clinical presentation, diagnosing celiac disease remains a challenge. We present a case of celiac disease presenting with severe anemia and clinical features suggestive of hemolytic anemia, making diagnosis even more difficult.

The Corneal Changes in Diabetic Patients

Diabetes mellitus (DM) represents a systemic disorder which afects different organs. Ocular complications of the DM are the worldwide leading cause of blindness. The most common complications are diabetic retinopathy, diabetic cataract, neovascular glaucoma. Recently many investigations point out that DM can cause comlications at ocular surface as well. Condition such as decreased corneal sensitivity, dry eye or neurotrophic corneal ulceraction are the main clinical manifestations of the diabetic keratopathy (DK). Untreated, these conditions can lead to serious visual acuity decrease. Pathological processes, based on chronic inflammation, due to chronic hyperglycemia, are the main step in the process of DK development. Adequate treatment of the main disease - DM is an imperative in maintaining the healthy cornea without subjective sensations of diabetic patients.

Immunoglobulin (IgG4) Sclerosing Cholecystitis- Camouflaging Gall Bladder Cancer- A Case Report and Review of Literature

Background: IgG4 related disease is a rare systemic disorder having an underlying autoimmune cause. These disorders mainly affects pancreatico biliary tree i.e. pancreas, gall bladder and biliary tree (extrahepatic as well intrahepatic),but can also affect other part of body.Majority of disorders involving biliary tree are associated with autoimmune pancreatitis component.These disorders are difficult to diagnose clinically as they can mimic inflammatory as well malignancy and poses a real diagnostic challenge to manage and treat.Case presentation: 64 years old female known diabetic evaluated for pain in right hypochondrium. Gall bladder cancer was suspected clinically as well on radiologically basis. Patient underwent extended cholecystectomy as it was a resectable disease.Final histopathology revealed immunoglobulin G4 (IgG4) related cholecystitis which was confirmed after immunohistochemistry for CD 138 and IgG4.This disease could be managed conservatively by giving oral steroids ,if it has been picked up preoperatively and major surgical intervention have been avoided. No defined blood test or tumour markers are currently available to diagnose this entity except serum immunoglobulin G4 which is costly and not feasible to get done in all patients especially in developing nations like India.Conclusion: IgG4 cholecystitis is an immune mediated disease whose pathophysiology is still not completely understood. Every clinician should keep possibility of IgG4 cholecystitis in mind whenever any patient with abnormal gall bladder thickening or gall bladder mass is encountered in their clinical practice, as both these entities have completely different options of treatment. We should not rely solely upon clinical and radiological picture.

Cardiac Pathology in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well as neurologic, endocrine and other systems. This review is on the cardiac pathology associated with DM1. The heart is one of the primary organs affected in DM1. Cardiac conduction defects are seen in up to 75% of adult DM1 cases and sudden death due to cardiac arrhythmias is one of the most common causes of death in DM1. Unfortunately, the pathogenesis of cardiac manifestations in DM1 is ill defined. In this review, we provide an overview of the history of cardiac studies in DM1, clinical manifestations, and pathology of the heart in DM1. This is followed by a discussion of emerging data about the utility of cardiac magnetic resonance imaging (CMR) as a biomarker for cardiac disease in DM1, and ends with a discussion on models of cardiac RNA toxicity in DM1 and recent clinical guidelines for cardiologic management of individuals with DM1.

Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations

Objective: Recessive WFS1 mutations are known to cause Wolfram syndrome, a very rare systemic disorder. However, they were also found in non-syndromic diabetes in Han Chinese misdiagnosed with type 1 diabetes, a molecular cause that appears to be considerably more common than the fully expressed syndrome. We aimed to better define the incidence and clinical features of non-syndromic diabetes due to recessive WFS1 mutation. Design: We analyzed the genotype and phenotype of 320 consecutive incident Chinese pediatric diabetic patients diagnosed from 2016 to 2019 to search for non-syndromic diabetic cases due to recessive WFS1 mutation. Methods: A cohort of 105 pancreatic autoantibody-negative patients were recruited for exome sequencing. All patients tested positive for pathogenic diallelic WFS1 mutations were examined for phenotypic features (fundoscopy, audiogram, urine density). Results: We found three cases of non-syndromic diabetes due to recessive WFS1 mutations (incidence = 0.94% (95CI 0.25%-2.7%)). All three cases only had mild diabetes when diagnosed. All patients had well conserved fasting C-peptide when diagnosed but one of them progressed to T1D-like insulin deficiency. In addition, we found a fourth case with previously undetected features of Wolfram syndrome. Conclusions: Non-syndromic diabetes due to WFS1 mutation may be common among Chinese pediatric patients with diabetes. It is important to differentiate it from other MODY subtypes with similar phenotype by molecular diagnosis because of different prognosis and, potentially, therapy.

Anaesthetic challenges in the spine surgery of a young Asian man with lumbar amyloidosis

Primary amyloidosis is a rare systemic disorder often associated with multiple organ dysfunction. The most common form, light chain amyloidosis, has an estimated age-adjusted incidence of 5.1–12.8 cases per million person-years. Spine involvement is extremely uncommon. We present the case of a young Asian man with newly diagnosed amyloidosis involving the lumbar spine among multiple organs with a pathological vertebral fracture that required urgent spine surgery. We believe this is the first reported case to discuss the perianaesthetic challenges in the management of lumbar spine amyloidosis.

Case Report: Lenalidomide as a Second-Line Treatment for Bortezomib-Ineffective Nephrotic Syndrome Caused by LCDD: 2 Case Reports and a Literature Review

Background: Light-chain deposition disease (LCDD) is a rare systemic disorder characterized by the deposition of monoclonal light chains in organs. The kidney is a prominent target of light-chain deposition, with a median time to end-stage renal disease (ESRD) of 2.7 years and 5-year ESRD-free survival of 37%. The therapeutic management of LCDD remains ill-defined. In addition to bortezomib-based therapy as first-line therapy, the effect of lenalidomide on LCDD is rarely reported.Case Presentation: This study describes two male LCDD patients in their 60s with nephrotic syndrome and moderately impaired renal function. One patient had monoclonal IgGλ with underlying MGRS, and another had monoclonal IgGκ with underlying monoclonal gammopathy that developed into symptomatic MM during follow-up. The hallmarks of this disease were consistent with previous reports. Both patients initially received BCD therapy, but no hematological response was observed. Consequently, the nephrotic syndrome was refractory. Sequential Rd therapy was initiated, and partial hematological response and nephrotic remission were observed in the IgGλ patient but absent in the IgGκ patient.Conclusion: Limited reports have demonstrated the effect of lenalidomide in LCDD. We report the outcome of lenalidomide in two cases of bortezomib-resistant LCDD. This treatment might be a beneficial supplement for those unresponsive or intolerant to bortezomib in LCDD, but the effect should be prospectively investigated.