Diarrhea with acanthocytosis is seen in:
Correct Answer: Wolman's Disease
Description: Answer is C (Wolman's Disease) The finding of acanthocytes on blood smear of a child with Steatorrhea or chronic diarrhoea should point to the diagnosis of Abetalipoproteinemia. Acanthocytosis with diarrhoea may also be seen in Wohnan's disease Wolman disease: Wolman Diseases is a Cholesterol Ester Storage disease characterized by a deficiency of the enzyme, Lysosomal Acid Lipase (Mapped to a gene on chromosome 10q23.2. It is characterized by the accumulation of cholesterol esters and triglycerides in affected tissues Infants are normal as bih, but have rapid onset of severe vomiting abdominal distention, malabsorption with diarrhea, poor weight gain, jaundice, fever, diffuse rash hepato-splenomegaly, and adrenal insufficiency (Adrenal calcification is noted on radiographs) Neurological involvement may be seen though it is generally mild and includes delayed intellectual development and mild spasticity Acanthocytosis may be seen. Lysosomal fat vacuoles are typically seen in hepatocytes and lymphocytes (Kupffer cells; Foam cells ;intensely PAS-Positive).On Polarizing Microscopy cholesterol crystals display birefringence (Maltese Crosses) The course is generally quite rapid. Death occurs within 3 to 6 months in most cases; no treatment is available.
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