Gyrus Daily Questions; Pediatrics #37

[cingulate.gyrus]

A 4-month-old child presents with diarrhea and poor growth since birth. The child has adequate oral intake but recurrent large malodorous stools. He has been evaluated for cystic fibrosis but tests were negative. Stool studies reveal an increased amount of fecal fat. Celiac sprue is considered and the child undergoes colonoscopy. Intestinal biopsy, however, demonstrates normal-appearing villi.

(A) citrullinemia
(B) porphyria
(C) abetalipoproteinemia
(D) familial hypercholesterolemia
(E) hypertrophic pyloric stenosis
(F) Gaucher disease (MPS II)
(G) Wilson disease

[anomali]

C...............

[Novobiocin]

Originally Posted by cingulate.gyrus

A 4-month-old child presents with diarrhea and poor growth since birth. The child has adequate oral intake but recurrent large malodorous stools. He has been evaluated for cystic fibrosis but tests were negative. Stool studies reveal an increased amount of fecal fat. Celiac sprue is considered and the child undergoes colonoscopy. Intestinal biopsy, however, demonstrates normal-appearing villi.

(A) citrullinemia
(B) porphyria
(C) abetalipoproteinemia
(D) familial hypercholesterolemia
(E) hypertrophic pyloric stenosis
(F) Gaucher disease (MPS II)
(G) Wilson disease

(C) abetalipoproteinemia
Only condition among these that can cause steatorrhoea.

How smart of them to say " intestinal biopsy demonstrates normal-appearing villi" and not to mention that "vacuoles containing lipids are seen in enterocytes"

[cingulate.gyrus]

(C) This patient’s history is most suggestive of abetalipoproteinemia, or Bassen-Kornsweig disease.

This disease is an autosomal recessive disorder resulting in absence of the betalipoproteins in the plasma. The resultant features are fat malabsorption (due to failure to form chylomicrons in the intestine), failure to thrive, cerebellar ataxia, retinitis pigmentosa, and changes in red blood cell morphology (acanthocytosis). Management includes supplementation of fat-soluble vitamins (ADEK) and maintenance of a low-fat diet.

[Dr_Laura]

I agree with everyone... it's C