Abetalipoproteinemia: a case report.
Abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa. Here we peresent a six-month-old patient with abetaliporoteinemia. He had a history of chronic diarrhea from the first month of life. He was cachectic and his motor development was delayed. Microscopic examination of the stool revealed fat. Mild anemia with reticulocytosis, acanthocytosis, low triglyceride, low cholesterol, low-density lipoprotein, high-density lipoprotein, and apolipoprotein A and B were detected. Ophthalmological examination was normal. Peroral jejunal capsule biopsy revealed normal villi and significant lipid deposition in the cytoplasm of affected cells. The patient was given large doses of vitamins E and A.
Selimoğlu
M A
MA
Department of Pediatrics, Atatürk University Faculty of Medicine, Erzurum, Turkey.
Eşrefoğlu
M
M
Gündoğdu
C
C
Kiliç
A
A
D000012:Abetalipoproteinemia / Q000150:complications / Q000175:diagnosis*; D000050:Acanthocytes / Q000378:metabolism; D002446:Celiac Disease / Q000209:etiology; D002784:Cholesterol / Q000097:blood; D005183:Failure to Thrive / Q000209:etiology; D006801:Humans; D007223:Infant; D007583:Jejunum / Q000473:pathology; D008297:Male; D014280:Triglycerides / Q000097:blood
D014280:Triglycerides; D002784:Cholesterol