Presentation

The primary manifestations are thrombocytopenia

Thrombocytopenia

Thrombocytopenia is a relative decrease of platelets in blood.A normal human platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. These limits are determined by the 2.5th lower and upper percentile, so values outside this range do not necessarily indicate disease...

 and megakaryocytopenia, or low numbers of platelets and megakaryocytes. There is an absence of megakaryocytes in the bone marrow with no associated physical abnormalities.

Cause

The cause for this disorder appears to be a mutation in the gene for the TPO receptor, c-mpl, despite high levels of serum TPO. In addition, there may be abnormalities with the central nervous system

Central nervous system

The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...

 including the cerebrum and cerebellum

Cerebellum

The cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established...

 which could cause symptoms.

Treatment

The primary treatment for CAMT is bone marrow transplantation.

Bone Marrow/Stem Cell Transplant is the only thing that ultimately cures this genetic disease. Frequent platelet transfusions are required to ensure that platlet levels do not fall to dangerous levels, although this is not always the case. It is known for patients to continue to create very small numbers of platlets over time.

External links

• Amegakaryocytic Thrombocytopenia research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
• CAMT Specific Infant Bone Marrow Transplant Journal - One of the few non Medical Research related sources on the web with some information on CAMT. There appears to be no generic resource for CAMT patients on the web, and this is potentially due to the rariety of the disease
• http://www.facebook.com/topic.php?uid=38970584460&topic=6387#/group.php?gid=38970584460 This is the closet thing to a 'support group' for this condition.