Diffuse degeneration of gray matter with cirrhosis: A progressive disease of the nervous system characterized by spasticity (tightness), myoclonus and dementia and by liver problems with jaundice and cirrhosis. This disorder, first described by Alpers in 1931 as “Diffuse progressive degeneration of gray matter of cerebrum”, usually begins early in life with convulsions. A continuous seizure (status epilepticus) is often the final event.
Alpers diffuse degeneration of gray matter with hepatic cirrhosis is due to more than one cause. Some cases are inherited as autosomal recessive traits with both parents appearing normal but carrying one Alpers gene and each of their children, boys and girls alike, running a 1 in 4 risk of receiving both of the parental Alpers genes and suffering from this dread disease.
Other cases of Alpers disease are due to disorders of oxidative phosphorylation, including mitochondrial DNA depletion syndromes. (Phosphorylation is the addition of phosphate to an organic compound, such as the addition of phosphate to ADP [adenosine diphosphate] to form ATP [adenosine triphosphate] or the addition of phosphate to glucose to produce glucose monophosphate, through the action of enzymes known as phosphotransferases or kinases.)
Alpers disease is also called progressive infantile poliodystrophy, and Alpers progressive infantile poliodystrophy.
- Diffuse idiopathic skeletal hyperostosis
A form of degenerative arthritis characteristically associated with flowing calcification along the sides of the vertebrae of the spine. Abbreviated DISH. DISH commonly includes inflammation (tendonitis) and calcification of the tendons at their points of attachment to bone. Anti-inflammatory medications (NSAIDs), such as ibuprofen, can be helpful in relieving both pain and inflammation. Also called […]
- Diffuse Intrinsic Pontine Glioma (DIPG) Medical Definition
Diffuse intrinsic pontine glioma (DIPG): a highly aggressive type of brain tumor found in the pons, a part of the brainstem. The brainstem controls many vital functions, like breathing, heart rate, and blood pressure. About 300 children are affected each year by DIPGs. They most commonly occur in children 5-9 years of age and can […]
- Diffuse mastocytosis
Diffuse mastocytosis: A form of mastocytosis in which the entire skin is thickened and leathery with generalized reddening and intense pruritus (itching) due to widespread infiltration of the skin with mast cells. Treatment may include antihistamines, drugs to reduce stomach acid, migraine headache drugs for headache, and cromolyn for bowel symptoms. Also called diffuse cutaneous […]
- Diffuse toxic goiter
Diffuse toxic goiter: Graves disease, the most common cause of hyperthyroidism (overactivity of the thyroid gland), with generalized diffuse overactivity (“toxicity”) of the entire thyroid gland which becomes enlarged into a goiter. There are three clinical components to Graves disease: Hyperthyroidism (the presence of too much thyroid hormone), Ophthalmopathy specifically involving exophthalmos (protrusion of the […]
- DiGeorge syndrome
DiGeorge syndrome: A genetic disorder characterized by hypocalcemia, immunodeficiency, and congenital heart disease: Hypocalcemia (low calcium levels in the blood) due to hypoplasia (underdevelopment) of the parathyroid glands that are needed to control calcium; Immunodeficiency due to hypoplasia (underdevelopment) of the thymus (an organ behind the breastbone needed for the maturation of lymphocytes into T […]