Contributed by Dr.George
Bassen-Kornzweig syndrome consists of Abetalipoproteinemia,Acanthocytosis and Apolipoprotein B deficiency
Bassen-Kornzweig syndrome is a rare, autosomal recessive disorder in which the microsomal triglyceride transfer protein (MTP) is absent because of mutations in the MTP gene. Individuals who are homozygous for this disorder have total cholesterol levels <1.3 mmol/L (<50 mg/dL) and essentially no VLDL, IDL, LDL, or chylomicrons.
Bassen-Kornzweig syndrome is a rare disease passed down through families more often affecting males,in which a person is unable to fully absorb dietary fats through the intestines.
Because dietary fat as well as vitamins A and E are transported from the intestine in chylomicrons, these patients may have malabsorption of fat and fat-soluble vitamins. Vitamin E deficiency in infancy and early childhood can result in neurologic problems. Moderately low levels of total cholesterol may also be associated with extreme reductions in HDL cholesterol; as noted above, these are almost always secondary to mutations in the gene for apo AI and a lack of apo AI in plasma.
symptoms
Balance and coordination difficulties
Curvature of spine
Decreased vision that gets worse over time
Developmental delay
Failure to thrive (grow) in infancy
Muscle weakness
Poor muscle coordination that usually develops after age 10
Protruding abdomen
Slurred speech
Stool abnormalities, including:
Fatty stools that appear pale in color
Frothy stools
Abnormally foul-smelling stools
Signs and tests
There may be damage to the retina of the eye (retinitis pigmentosa).
Tests that may be done to help diagnose this condition include:
Apolipoprotein B blood test
Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K)
Complete blood count (CBC)
Cholesterol studies
Electromyography
Eye exam
Nerve conduction velocity
Stool sample analysis
Genetic testing may be available for mutations in the MTP gene.
Treatment
Treatment involves large doses of vitamin supplements containing fat-soluble vitamins (vitamin A, vitamin D, vitamin E and vitamin K)
Linoleic acid supplements are also recommended.
People with this condition should talk to a nutritionist. Diet changes are needed to prevent stomach problems. This involves:
Limiting fat intake to 5 - 20 grams per day.
Do not eat more than 5 daily ounces of lean meat, fish, or poultry.
Use skim milk instead of whole milk.
Supplements of medium-chain triglycerides are taken under the supervision of a doctor or nutritionist. They should be used with caution because they may cause liver damage.
Expectations (prognosis)
How well a patient does depends on the amount of brain and nervous system problems.
Complications
Blindness
Mental deterioration
Loss of function of peripheral nerves, uncoordinated movement (ataxia).If vitamin replacement is adequate, individuals with abetalipoproteinemia can live normal, healthy lives
Differntial diagnosis
A number of systemic diseases can cause low cholesterol concentrations. Malnutrition, often associated with alcoholism or gastrointestinal disease, can cause low levels of total and LDL cholesterol. Patients with AIDS may have total cholesterol levels <2.1 mmol/L (<80 mg/dL), usually associated with severe wasting, diarrhea, and a poor prognosis. Several neoplasms, particularly those involving the hematopoietic system,are associated with hypocholesterolemia. Patients with acute and chronic myelogenous leukemia and myeloid metaplasia with splenomegaly can have severe reductions in both LDL and HDL levels. Other disease with concomitant splenomegaly, including lipid storage diseases such as Gaucher's disease and Niemann-Pick disease, can cause very low LDL and HDL cholesterol concentrations due to increased lipoprotein catabolism.
Homeopathic rubric relections:
The following rubrics can be considered in arriving at the remedy. A good symptomatic relief can be given in these type of cases.
STOOL - FROTHY
STOOL - ODOR - offensive
VISION - WEAK
ABDOMEN - DISTENSION - general - large - pot-bellied, flabby
BACK - CURVATURE of spine - general
GENERALITIES - COORDINATION affected, disturbed
GENERALITIES - DEVELOPMENT arrested - nutritional complaints, due to
GENERALITIES - WEAKNESS, enervation, exhaustion, prostration, infirmity - muscles
SPEECH & VOICE - SPEECH - thick
(see image)
Source :Harrison practice of medicine;Adam medical encyclopedia
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ReplyDeleteI really liked your article. There are many information on get retinitis pigmentosa treatment. I am fearing that I might have this treatment. Though I am not that sure of so I am thinking about getting checked. Hope that I wont have this disease or else I will need to take this treatment.
ReplyDeleteWant to know what is retinitis pigmentosa treatment? Retinitis Pigmentosa (RP) is a genetic bind eye condition, people face loss of vision. Condition becomes worsen over time. Vitamin A palmitate supplements may be useful to slow worsening.
ReplyDeleteRetinitis pigmentosa is an inherited, degenerative eye disease that causes server to profound vision impairments including blindness. The condition is highly variable with some people showing symptoms in childhood and others are not aware of their condition until later in life. Necessary to take retinitis pigmentosa treatment
ReplyDelete