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Abetalipoproteinemia

Signs & Symptoms

 Failure to thrive
Ref: Epocrates [ Abetalipoproteinemia]
Diarrhea Gr. infants and children
Note: Containing chunks of fat and blood, Often found in infancy and childhood
Ref: Epocrates [ Abetalipoproteinemia]
Painful bouts (negative symptom)
Note: Abetalipoproteinemia is associated to painlessness and infancy period in contrast to crohn disease
Ref: Epocrates [ Abetalipoproteinemia]
Foul-smelling stool Gr. infants and children
Note: Containing chunks of fat and blood, Often found in infancy and childhood
Ref: Epocrates [ Abetalipoproteinemia]

Physical Examination

 Dysmetria
Note: In progressive disease, due to Vitamin E deficiency
Ref: Epocrates [ Abetalipoproteinemia]
Loss of deep tendon reflexes
Note: An early clinical sign
Ref: Epocrates [ Abetalipoproteinemia]
Loss of proprioception
Note: In progressive disease, due to Vitamin E deficiency
Ref: Epocrates [ Abetalipoproteinemia]

Lab / Serology

 Malabsorption
Ref: Epocrates [ Abetalipoproteinemia]
Steatorrhea Gr. infants and children
Note: Containing chunks of fat and blood, Often found in infancy and childhood
Ref: Epocrates [ Abetalipoproteinemia]
Low triglycerides
Ref: Epocrates [ Abetalipoproteinemia]

Imagin Study

Complication

 Worsening balance
Note: due to Vitamin E deficiency
Ref: Epocrates [ Abetalipoproteinemia]
Neurologic deterioration
Note: due to Vitamins E deficiency, due to Vitamins A deficiency, due to Vitamins K deficiency
Ref: Epocrates [ Abetalipoproteinemia]
Peripheral neuropathy
Note: due to Vitamins E deficiency, due to Vitamins A deficiency, due to Vitamins K deficiency
Ref: Epocrates [ Abetalipoproteinemia]

Risk Factors

 Children
Ref: Epocrates [ Abetalipoproteinemia]
Infants
Ref: Epocrates [ Abetalipoproteinemia]

Cause

Other