Uncommon Presentation of a Common Disease Singhal, Ayushi; Sahoo, Ratnakar; Kaur, Jaspreet ...
Journal of the Association of Physicians of India
68, Issue:
1
Journal Article
Autism spectrum conditions comprise a set of early-onset neurodevelopmental syndromes with a prevalence of 1% across all ages. First diagnosis in adulthood has finally become recognised as an ...important clinical issue due to the increasing awareness of autism, broadening of diagnostic criteria, and the introduction of the spectrum concept. Thus, the idea of a lost generation of people who were previously excluded from a diagnosis of classic autism has arisen. Making a first diagnosis of autism spectrum conditions in adults can be challenging for practical reasons (eg, no person to provide a developmental history), developmental reasons (eg, the acquisition of learnt or camouflaging strategies), and clinical reasons (eg, high frequency of co-occurring disorders). The diagnostic process includes referral, screening, interviews with informants and patients, and functional assessments. In delineating differential diagnoses, true comorbidities, and overlapping behaviour with other psychiatric diagnoses, particular attention should be paid to anxiety, depression, obsessive-compulsive disorder, psychosis, personality disorders, and other neurodevelopmental disorders. Possible misdiagnosis, especially in women, should be explored. The creation of supportive, accepting, and autism-friendly social and physical environments is important and requires a coordinated effort across agencies and needs support from government policies.
Immune thrombocytopenia is a relatively common bleeding disorder characterized by isolated destruction of platelets by autoantibodies, with a typically acute onset, benign course and self-limiting in ...most cases. The aim of this report is to present a rare case of Primary Immune Thrombocytopenia (ITP) with palpable purpura, an uncommon manifestation in this disease and little described in the literature. This is a 12-year-old female adolescent who presented with palpable purpura, ecchymosis and oral cavity bleeding associated with thrombocytopenia and anemia. Initial investigation excluded autoimmune diseases, vasculitis, lymphoproliferative diseases and coagulation disorders, in addition to the myelogram showing typical findings of ITP: hypercellular bone marrow with megakaryocytic hyperplasia and decreased thrombocytogenesis. Due to the diversity of clinical presentation and the possibility of atypical manifestations, the diagnosis is often challenging, as in the case of this patient in which the main finding on physical examination was the presence of palpable purpura.
A 15-month-old infant presented with yellowish papules and nodules scattered on his trunk, back, scalp, and eyelids (Figure 1). The asymptomatic lesions first appeared at three months of age. Since ...then, they have enlarged and changed from dark red to yellowish-orange. Histological examination of a punch biopsy specimen from the center of a plaque revealed aggregates of histiocytes, Touton giant cells, and lymphocytes in the dermis.
In December 2019, an outbreak of severe acute respiratory syndrome coronavirus 2 infection occurred in Wuhan, Hubei Province, China, and spread across China and beyond. On February 12, 2020, the ...World Health Organization officially named the disease caused by the novel coronavirus as coronavirus disease 2019 (COVID-19). Because most patients infected with COVID-19 had pneumonia and characteristic CT imaging patterns, radiologic examinations have become vital in early diagnosis and the assessment of disease course. To date, CT findings have been recommended as major evidence for clinical diagnosis of COVID-19 in Hubei, China. This review focuses on the etiology, epidemiology, and clinical symptoms of COVID-19 while highlighting the role of chest CT in prevention and disease control.
Polycystic ovary syndrome (PCOS) is a heterogeneous and complex disorder that has both adverse reproductive and metabolic implications for affected women. However, there is generally poor ...understanding of its etiology. Varying expert-based diagnostic criteria utilize some combination of oligo-ovulation, hyperandrogenism, and the presence of polycystic ovaries. Criteria that require hyperandrogenism tend to identify a more severe reproductive and metabolic phenotype. The phenotype can vary by race and ethnicity, is difficult to define in the perimenarchal and perimenopausal period, and is exacerbated by obesity. The pathophysiology involves abnormal gonadotropin secretion from a reduced hypothalamic feedback response to circulating sex steroids, altered ovarian morphology and functional changes, and disordered insulin action in a variety of target tissues. PCOS clusters in families and both female and male relatives can show stigmata of the syndrome, including metabolic abnormalities. Genome-wide association studies have identified a number of candidate regions, although their role in contributing to PCOS is still largely unknown.
Human herpesvirus-8 (HHV-8)–negative, idiopathic multicentric Castleman disease (iMCD) is a rare and life-threatening disorder involving systemic inflammatory symptoms, polyclonal ...lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. iMCD accounts for one third to one half of all cases of MCD and can occur in individuals of any age. Accurate diagnosis is challenging, because no standard diagnostic criteria or diagnostic biomarkers currently exist, and there is significant overlap with malignant, autoimmune, and infectious disorders. An international working group comprising 34 pediatric and adult pathology and clinical experts in iMCD and related disorders from 8 countries, including 2 physicians that are also iMCD patients, was convened to establish iMCD diagnostic criteria. The working group reviewed data from 244 cases, met twice, and refined criteria over 15 months (June 2015 to September 2016). The proposed consensus criteria require both Major Criteria (characteristic lymph node histopathology and multicentric lymphadenopathy), at least 2 of 11 Minor Criteria with at least 1 laboratory abnormality, and exclusion of infectious, malignant, and autoimmune disorders that can mimic iMCD. Characteristic histopathologic features may include a constellation of regressed or hyperplastic germinal centers, follicular dendritic cell prominence, hypervascularization, and polytypic plasmacytosis. Laboratory and clinical Minor Criteria include elevated C-reactive protein or erythrocyte sedimentation rate, anemia, thrombocytopenia or thrombocytosis, hypoalbuminemia, renal dysfunction or proteinuria, polyclonal hypergammaglobulinemia, constitutional symptoms, hepatosplenomegaly, effusions or edema, eruptive cherry hemangiomatosis or violaceous papules, and lymphocytic interstitial pneumonitis. iMCD consensus diagnostic criteria will facilitate consistent diagnosis, appropriate treatment, and collaborative research.
•An international panel established the first ever diagnostic criteria for iMCD based on review of 244 clinical cases and 88 tissue samples.•The criteria require multicentric lymphadenopathy with defined histopathology, ≥2 clinical/laboratory changes, and exclusion of iMCD mimics.
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