People can live with NLSD, but there can be complications due to the affects this disease has on other major parts of the body like the liver, the heart, and skeletal muscle. Whereas myopathy won’t necessarily show up until a patient is in the third decade of their life, a child born with ichthyosis, is immediately evaluated for NLSD, in which it is detected very early on. Also, the earlier that NLSD can be detected and symptoms treated, the better quality of life the patient can have. Treatment
Although there is no current treatment to correct the abnormal metabolic processes underlying this disease, there are approaches to ameliorate symptoms and decrease the effects of this disease. Because there is an increase of fat storage and a decrease in fat catabolism, low fat diets are recommended for slowing the progression of the disease, including the onset of type 2 diabetes and hypothyroidism. In addition, diets containing triglycerides composed of short chain fatty acids are more beneficial than TGAs containing long chain fatty acids. Ketone bodies can be rapidly transported, catabolized, and used by many tissues including the brain. Medium-chain fatty acids in an individual’s diet are rapidly used by the body, limiting storage and therefore alleviating lipid droplet accumulation. Foods with medium-chain fatty acids include dairy, fat and coconut oil. Supplements can also be taken to increase uptake of these fatty acids. Triaheptanoin, a triglyceride containing three seven-carbon chain fatty acids, has also been proposed as a possible dietary supplement.
Richters syndrome (RS), also known as Richters transformation, is a transformation of B cell chronic lymphocytic leukemia (CLL) or hairy cell leukemia into a fast-growing diffuse large B cell lymphoma, a variety of non-Hodgkin lymphoma which is refractory to treatment and carries a bad prognosis. There is also a less common variant in which the CLL changes into a Hodgkins lymphoma. Rarely, transformations to a form of myeloid leukemia have been observed. These extraordinarily rare transformations carry a very poor prognosis. Richters transformation affects about 5% of CLL patients at some point during their lives. Signs and symptoms
Symptoms of Richter’s transformation in a CLL patient include fever (without infection), elevated serum levels of lactate dehydrogenase, and rapidly enlarging lymph nodes. While about 8% of all CLL patients will have elevated levels of serum lactate dehydrogenase (LDH), more than 50% of CLL patients with Richters transformation will have elevated LDH levels.Richters can appear suddenly, even in patients who were in remission. Cause
A case of RS may have arisen by one of two different routes:  a transformation of the CLL cells into lymphoma, or the appearance of an unrelated lymphoma.It is thought that genetic defects may introduce the additional abnormalities necessary to transform CLL cells into Richters syndrome cells. Treatment
Treatment with conventional immunochemotherapy is usually indicated; in younger patients, allogeneic bone marrow transplantation may be curative. Prognosis
The prognosis is generally poor.