The Medical clinics of North America
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Acquired demyelinating syndromes (ADS) are a heterogenous group of inflammatory demyelinating conditions that include presentations of optic neuritis, transverse myelitis, and acute demyelinating encephalomyelitis. They can be monophasic or can develop into relapsing episodes of the initial demyelinating event or evolve to include other types of demyelination. ⋯ Differentiating between these subtypes is important for the optimal management of these patients. Clinical features, labs (especially autoantibodies), and MRI findings can help to differentiate between the different ADS.
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Chronic recurrent multifocal osteomyelitis (CRMO) is an underrecognized autoinflammatory disease affecting the skeletal system. Its vague symptoms are often first attributed to growing pains, infection, or malignancy, which can lead to a delay in diagnosis for days to years. ⋯ Treatment consists of various antiinflammatory medications and may also include bisphosphonates if vulnerable skeletal sites are involved. Even when treated, the disease may have a relapsing course lasting years.
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Med. Clin. North Am. · Jan 2024
Review Case ReportsUnusual Presentations of Systemic Lupus Erythematosus.
Systemic lupus erythematosus (SLE) often develops during adolescence, may affect any organ system, and may present with a wide variety of signs and symptoms. It is critical to recognize the unusual manifestations of SLE in order to make a prompt diagnosis. Earlier diagnosis allows for appropriate treatment and ultimately decreases morbidity and mortality.
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Congenital central hypoventilation syndrome (CCHS) is a rare disorder of the autonomic nervous system involving multiple organ systems, with the hallmark symptom of respiratory failure due to aberrant central control of breathing resulting in hypoxemia and hypercapnia. Later onset CCHS (LOCCHS) is defined as the diagnosis of CCHS in children older than 1 month. Molecular genetic testing for PHOX2B variants has led not only to increased diagnosis of neonates with CCHS but also the increased identification of older children, adolescents, and adults with LOCCHS who may have a milder clinical presentation of this multisystem disease.