Freibergs disease Freibergs disease is a rare medical condition. The target areas of the body affected are the Foot long bones called as the second and third of the metatarsals Who is at risk for Freibergs disease Adolescence age group are more affected, especially the second decade Any age are susceptible to this disease How common …
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Pediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS) PANDAS in short A subset of pediatric acute-onset neuropsychiatric syndromes, resembling tic disorders and OCD, has been implicated to associate with recent GAS infection in school-aged children. These are classified as PANDAS. Working diagnostic criteria include OCD or tic disorder of abrupt onset and episodic course between …
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What is the genetic defect in liddle syndrome, and how are such patients treated? Liddle syndrome is a rare (∼30 pedigrees described through 2008) autosomal-dominant disorder caused by a gain of function mutation of the epithelial sodium channel (ENaC) in the cortical collecting tubule. The mutation causes increased sodium reabsorption, volume expansion, and blood pressure. …
What is nephrogenic systemic fibrosis (NSF)? Nephrogenic systemic fibrosis previously known as nephrogenic fibrosing dermopathy, is characterized by progressive fibrosis and thickening of the skin (similar to scleroderma), which is particularly painful, and also fibrosis in other organs (e.g., pleura, diaphragm). A rare but debilitating or fatal fibrosing condition that most often affects the skin …
What is POEMS syndrome? The acronym POEMS refers to • P olyneuropathy • O rganomegaly • E ndocrinopathy • M onoclonal protein • S kin involvement POEMS syndrome stands for: • P olyneuropathy: a demyelinating sensorimotor peripheral neuropathy is seen in 100% of patients. At least 50% of patients develop severe muscle weakness. • O rganomegaly: hepatomegaly, splenomegaly, or lymphadenopathy develops in 50%. • E ndocrinopathy: 67% have or develop at least …
What is transverse myelitis? Transverse myelitis is an inflammatory process that is localized over several segments of the cord and functionally transects the cord. It may occur as an infectious or parainfectious illness or as a manifestation of multiple sclerosis, neuromyelitis optica, or other autoimmune process. Incidence of Transverse myelitis Transverse myelitis is extremely rare …
What is Reyes syndrome? Reyes syndrome is a rare, acute noninflammatory encephalopathy that primarily affects children and adolescents. A correlation between the disease and a preceding viral infection (especially influenza and varicella) treated with salicylates has been reported, although other toxic, metabolic, or hypoxic insults may play roles in the pathogenesis. The clinical manifestations of …