Syndrome, Klippel-Trenaunay-Weber (KTW)
A congenital malformation syndrome characterized by the triad of asymmetric limb hypertrophy, hemangiomata, and nevi. “Asymmetric limb hypertrophy” is enlargement of one limb and not the corresponding limb on the other side, the enlarged limb being 3 times more likely to be a leg than an arm in KTW; and the limb enlargement is of bone as well as soft tissue. The hemangiomas, abnormal nests of blood vessels that proliferate inappropriately and excessively, cover a remarkable range from small innocuous capillary hemangiomas (“strawberry marks”) to huge cavernous hemangiomas. The nevi are pigmented moles on the skin; in KTW there are often also dark linear streaks on the skin, streaks due to too much pigment. There can be other abnormalities but the triad is the consistent clinical centerpiece of the disease. Most persons with KTW have an enlarged leg and do relatively well without treatment or, for example, with only compression from an elastic stocking. Skin ulcers and other skin problems can occur over the swollen leg. Usually, the treatment is conservative. Surgery is almost never needed. The only possible exceptions are the very rare situations in which the leg reaches gigantic proportions or secondary clotting difficulties arise (due to trapping and destruction of blood platelets in a huge hemangioma). Then, amputation may become necessary. The cause of KTW syndrome is unknown.
- Syndrome, Kostmann
severe congenital neutropenia (SCN). severe congenital neutropenia was first clearly described by Kostmann in 1956. It is now known to be caused by a defect in a gene on chromosome 1 (in 1p35-p34.3) that codes for what is called the granulocyte colony-stimulating factor receptor (GCSFR). Treatment with recombinant human granulocyte colony-stimulating factor (GCSF) elevates the […]
- Syndrome, Landau-Kleffner
See Landau-Kleffner syndrome.
- Syndrome, Launois-Bensaude
A disorder characterized by painless symmetrical diffuse deposits of fat beneath the skin of the neck, upper trunk, arms and legs. The condition is thought to be genetic although its exact mode of inheritance is uncertain; it may be a mitochondrial DNA disease. It frequently appears in association with alcoholic liver disease, macrocytic anemia (“low […]
Peripheral neuropathy is when the peripheral nerves (as compared to the spinal cord or brain) become the source of pain. One way to look at pain is whether it is in response to an appropriate stimulus, such as someone stepping on your toe, or whether the pain occurs for no obvious reason; malfunctioning of the […]
- Syndrome, Lennox-Gastaut
A severe form of epilepsy that usually begins in early childhood and is characterized by frequent seizures of multiple types, mental impairment, and a particular brain wave pattern (a slow spike-and-wave pattern). The seizures that are notoriously hard to treat and may lead to falls and injuries can be reduced in frequency by treatment with […]