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Dravet syndrome ( DS ), previously known as severe myoclonic epilepsy of infancy ( SMEI ), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. [ 1] It is very difficult to treat with anticonvulsant medications.
Excess amounts of T3 circulate in the bloodstream. It is unclear if this is a consequence of compensatory hyperdeiodination or if it results from impaired uptake by certain cell types. Increased T3 levels in the blood may be toxic to some organs and contribute to the signs and symptoms of Allan–Herndon–Dudley syndrome. [citation needed]
Heat intolerance is a symptom characterized by feeling overheated in warm environments or when the surrounding environment's temperature rises. [1] Typically, the person feels uncomfortably hot and sweats excessively. Compared to heat illnesses like heatstroke, heat intolerance is usually a symptom of endocrine disorders, drugs, or other ...
Hashimoto's encephalopathy, also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis ( SREAT ), is a neurological condition characterized by encephalopathy, thyroid autoimmunity, and good clinical response to corticosteroids. It is associated with Hashimoto's thyroiditis, and was first described in 1966.
In the absence of Graves' ophthalmopathy, patients may demonstrate other ophthalmic symptoms and signs due to hyperthyroidism: Dry eyes (due to loss of corneal moisture). [24] A sense of irritation, discomfort, or pain in the eyes. A tingling sensation behind the eyes or the feeling of grit or sand in the eyes.
Cornelia de Lange syndrome. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
A myelodysplastic syndrome ( MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. [ 3] Early on, no symptoms typically are seen. [ 3] Later, symptoms may include fatigue, shortness of breath, bleeding disorders, anemia, or frequent infections ...
Mechanically induced Roemheld syndrome is characterized by pressure in the epigastric and left hypochondriac region. Often the pressure is in the fundus of the stomach, the esophagus or distention of the bowel. It is believed this leads to elevation of the diaphragm, and secondary displacement of the heart. This reduces the ability of the heart ...